Yale Genetics
Yale New Haven Hospital
20 York Street, Ste West Pavilion 2nd Floor
New Haven, CT 06510
- Yale GeneticsYale New Haven Hospital20 York Street, Ste West Pavilion 2nd FloorNew Haven, CT 06510
Allen Bale, MD
Genetics, Clinical Genetics
Telehealth is available
Patient type treated
Child, Adult
Accepting new patients
Yes
Referral required
From patients or physicians
Board Certified in
Clinical Genetics, Internal Medicine, Molecular Genetics
, and Clinical Genetics and Genomics
Biography
Allen Bale, MD, is a clinical geneticist who has spent nearly three decades investigating cancer predisposition syndromes, which occur when a person inherits one or more genes that predispose him or her to cancer. For example, one of the better-known genes that can be inherited with a mutation is the BRCA1 gene. A mutation in this gene increases the risk that a person will develop breast cancer.
Dr. Bale also oversees clinical genome sequencing at the Yale Center for Genome Analysis. His research replies on the latest “DNA sequencing technology for the discovery of new human disease genes,” Dr. Bale says.
He has collaborated on many research projects, including with the Hospital General de Mexico on hereditary breast and ovarian cancer. Dr. Bale is a professor of genetics at Yale School of Medicine.
Titles
- Professor of Genetics
- Director, Fellowship in Laboratory Genetics and Genomics
- Director, DNA Diagnostic Lab
Education & Training
- Postdoctoral FellowNational Cancer Institute (1988)
- ResidentWestern Pennsylvania Hospital (1983)
- MDUniversity of Massachusetts, Medicine (1979)
- BSMassachusetts Institute of Technology, Life sciences (1975)
Languages Spoken
- English
Additional Information
Board Certifications
- AB of Medical Genetics, Clinical Genetics (1987)
- AB of Internal Medicine, Internal Medicine (1983)
Publications
- Deignan J, Aggarwal V, Bale A, Bellissimo D, Booker J, Cao Y, Crooks K, Deak K, Del Gaudio D, Funke B, Hoppman N, Horner V, Hufnagel R, Jackson-Cook C, Koduru P, Leung M, Li S, Liu P, Luo M, Mao R, Mason-Suares H, Mikhail F, Moore S, Naeem R, Pollard L, Repnikova E, Shao L, Shaw B, Shetty S, Smolarek T, Spiteri E, Van Ziffle J, Vance G, Vnencak-Jones C, Williams E. The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors. Genetics In Medicine Open 2024, 2: 101820. PMID: 39175871, PMCID: PMC11340206, DOI: 10.1016/j.gimo.2024.101820.
- Xicola R, Bistline E, Galloway M, Cox A, Abdelhamed Z, Ma D, Zhao C, Dykas D, Bale A, Zhang H. P352: The importance of genetics consultation prior to testing for a successful rapid genome sequencing program. Genetics In Medicine Open 2024, 2: 101246. DOI: 10.1016/j.gimo.2024.101246.
- Ma D, Peng G, Dykas D, Bale A, Zhang H. P662: Updates on phenotypic spectrum and genotype-phenotype correlation of WDFY3-related syndrome. Genetics In Medicine Open 2024, 2: 101567. DOI: 10.1016/j.gimo.2024.101567.
- Abdelhamed Z, Dykas D, DiAdamo A, Wen J, Zhang H, Spencer-Manzon M, Li P, Jiang Y, Bale A. P602: Genetic modifiers as a basis for phenotypic variability in mosaic trisomy 8. Genetics In Medicine Open 2024, 2: 101508. DOI: 10.1016/j.gimo.2024.101508.
- Kayser M, Jain P, Bale A, Carpenter T. A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia. JCEM Case Reports 2023, 1: luad082. PMID: 37908207, PMCID: PMC10586592, DOI: 10.1210/jcemcr/luad082.
- Zheng M, Hakim A, Konkwo C, Deaton A, Ward L, Genetics A, Silveira M, Assis D, Liapakis A, Jaffe A, Jiang Z, Curry M, Lai M, Cho M, Dykas D, Bale A, Mistry P, Vilarinho S. Advancing diagnosis and management of liver disease in adults through exome sequencing. EBioMedicine 2023, 95: 104747. PMID: 37566928, PMCID: PMC10433007, DOI: 10.1016/j.ebiom.2023.104747.
- Wiegand A, Kastury R, Neogi A, Mani A, Bale A, Cox A. FKBP14 kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report. Molecular Case Studies 2023, 9: a006281. PMID: 37433679, PMCID: PMC10393184, DOI: 10.1101/mcs.a006281.
- Chung D, Zheng M, Bale A, Vilarinho S. Hepatology Genome Rounds: An interdisciplinary approach to integrate genomic data into clinical practice. Journal Of Hepatology 2023, 79: 1065-1071. PMID: 37011712, PMCID: PMC10523901, DOI: 10.1016/j.jhep.2023.03.030.
- Balkaya S, Kastury R, Jiang Y, Zhang H, Bale A, Spencer M. INTERMITTENT MSUD CASE, IN AN UNEXPLAINED ENCEPHALOPATH IN AN ADULT AFTER CARDIAC SURGERY. Molecular Genetics And Metabolism 2023, 138: 107389. DOI: 10.1016/j.ymgme.2023.107389.
- Zhao C, Chai H, Zhang H, Jiang Y, Li P, Bale A. P641: Whole-exome sequencing on product of conception: A cohort study to evaluate clinical utility and genetic etiology for pregnancy loss. Genetics In Medicine Open 2023, 1: 100697. DOI: 10.1016/j.gimo.2023.100697.
- Ma D, Popa A, Dykas D, Ziganshin B, Zafar M, Elefteriades J, Zhang H, Bale A. P503: Historical prospective study of the link between JAK2-V617F and thoracic aortic aneurysm. Genetics In Medicine Open 2023, 1: 100550. DOI: 10.1016/j.gimo.2023.100550.
- Al‐Ali S, Jeffries L, Faustino EVS, Ji W, Mis E, Konstantino M, Zerillo C, Jiang Y, Spencer‐Manzon M, Bale A, Zhang H, McGlynn J, McGrath JM, Tremblay T, Brodsky NN, Lucas CL, Pierce R, Deniz E, Khokha MK, Lakhani SA. A retrospective cohort analysis of the Yale pediatric genomics discovery program. American Journal Of Medical Genetics Part A 2022, 188: 2869-2878. PMID: 35899841, PMCID: PMC9474639, DOI: 10.1002/ajmg.a.62918.
- GALUPPO B, MANNAM P, TRICO D, BALE A, CAPRIO S, SANTORO N. 978-P: Rare Variants in Melanocortin 4 Receptor Gene (MC4R) Are Associated with Increased Visceral Fat and Altered Glucose Metabolism Independent of the Effect of Obesity in Children. Diabetes 2022, 71 DOI: 10.2337/db22-978-p.
- Wen J, Chai H, Grommisch B, DiAdamo A, Dykas D, Ma D, Popa A, Zhao C, Spencer‐Manzon M, Jiang Y, McGrath J, Li P, Bale A, Zhang H. Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients. American Journal Of Medical Genetics Part A 2022, 188: 1728-1738. PMID: 35199448, DOI: 10.1002/ajmg.a.62693.
- Sun Q, Gehlhausen JR, Freudzon M, Kibbi N, Bale A, Choate K, Tomayko M, Odell I, Ramachandran S. A novel NFkB1 mutation linking pyoderma gangrenosum and common variable immunodeficiency. JAAD Case Reports 2021, 18: 61-63. PMID: 34825039, PMCID: PMC8605275, DOI: 10.1016/j.jdcr.2021.10.015.
- Werner KM, Cox AJ, Qian E, Jain P, Ji W, Tikhonova I, Castaldi C, Bilguvar K, Knight J, Ferdinandusse S, Fawaz R, Jiang Y, Gallagher PG, Bizzarro M, Gruen JR, Bale A, Zhang H. D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia. American Journal Of Medical Genetics Part A 2021, 188: 357-363. PMID: 34623748, PMCID: PMC8678290, DOI: 10.1002/ajmg.a.62520.
- Zhao C, Chai H, Zhou Q, Wen J, Reddy U, Kastury R, Jiang Y, Mak W, Bale A, Zhang H, Li P. Exome Sequencing Analysis on Products of Conception: A Cohort Study to Evaluate Clinical Utility and Genetic Etiology for Pregnancy Loss. Obstetrical & Gynecological Survey 2021, 76: 468-469. DOI: 10.1097/01.ogx.0000791680.43228.b1.
- Wen J, Grommisch B, DiAdamo A, Chai H, Ng SME, Hui P, Bale A, Mak W, Wang G, Li P. Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues. Molecular Cytogenetics 2021, 14: 21. PMID: 33810806, PMCID: PMC8019165, DOI: 10.1186/s13039-021-00542-5.
- Li Q, Gulati A, Lemaire M, Nottoli T, Bale A, Tufro A. Rho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosis. Kidney International 2021, 99: 1102-1117. PMID: 33412162, PMCID: PMC8076076, DOI: 10.1016/j.kint.2020.12.022.
- Mendoza H, Chen PH, Pine AB, Siddon AJ, Bale AE, Gowda L, Killie A, Richards J, Varin-Tremblay C, Kloss R, Podoltsev NA. A case of acute myeloid leukemia with unusual germline CEBPA mutation: lessons learned about mutation detection, location, and penetrance. Leukemia & Lymphoma 2020, 62: 1251-1254. PMID: 33345654, DOI: 10.1080/10428194.2020.1861276.
- Zhao C, Chai H, Zhou Q, Wen J, Reddy UM, Kastury R, Jiang Y, Mak W, Bale AE, Zhang H, Li P. Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss. Genetics In Medicine 2020, 23: 435-442. PMID: 33100332, DOI: 10.1038/s41436-020-01008-6.
- Majumdar SK, Jacob T, Bale A, Bailey A, Kwon J, Hughes T, Barbieri AL, Laskin W, Cohen P, Carling TJE. A Novel Variant in the Calcium‐Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low‐to‐Normal PTH. Case Reports In Endocrinology 2020, 2020: 8752610. PMID: 33062349, PMCID: PMC7555459, DOI: 10.1155/2020/8752610.
- Murray MF, Kenny EE, Ritchie MD, Rader DJ, Bale AE, Giovanni MA, Abul-Husn NS. COVID-19 outcomes and the human genome. Genetics In Medicine 2020, 22: 1175-1177. PMID: 32393819, PMCID: PMC8629441, DOI: 10.1038/s41436-020-0832-3.
- Chai H, DiAdamo A, Grommisch B, Xu F, Zhou Q, Wen J, Mahoney M, Bale A, McGrath J, Spencer-Manzon M, Li P, Zhang H. A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings. Frontiers In Genetics 2019, 10: 1162. PMID: 31850057, PMCID: PMC6902283, DOI: 10.3389/fgene.2019.01162.
- Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical ImplicationsVinholo T, Brownstein AJ, Ziganshin BA, Zafar MA, Kuivaniemi H, Body SC, Bale AE, Elefteriades JA. Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications. Aorta 2019, 07: 099-107. PMID: 31842235, PMCID: PMC6914358, DOI: 10.1055/s-0039-3400233.
- Hakim A, Zhang X, DeLisle A, Oral EA, Dykas D, Drzewiecki K, Assis DN, Silveira M, Batisti J, Jain D, Bale A, Mistry PK, Vilarinho S. Clinical utility of genomic analysis in adults with idiopathic liver disease. Journal Of Hepatology 2019, 70: 1214-1221. PMID: 31000363, PMCID: PMC6526061, DOI: 10.1016/j.jhep.2019.01.036.
- Madhavan P, Van Do TH, Bale A, Majumdar S. A Novel Mutation in Calcium-Sensing Receptor Presenting as Familial Hypocalciuric Hypercalcemia in a Young Man. AACE Clinical Case Reports 2019, 5: e226-e229. PMID: 31967040, PMCID: PMC6873832, DOI: 10.4158/accr-2018-0236.
- Phatak A, Athar M, Crowell JA, Leffel D, Herbert BS, Bale AE, Kopelovich L. Global gene expression of histologically normal primary skin cells from BCNS subjects reveals “single-hit” effects that are influenced by rapamycin. Oncotarget 2019, 10: 1360-1387. PMID: 30858923, PMCID: PMC6402716, DOI: 10.18632/oncotarget.26640.
- Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death. European Journal Of Medical Genetics 2018, 62: 103574. PMID: 30439532, DOI: 10.1016/j.ejmg.2018.11.008.
- Gulati A, Bale AE, Dykas DJ, Bia MJ, Danovitch GM, Moeckel GW, Somlo S, Dahl NK. TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD—A Novel Presentation. American Journal Of Kidney Diseases 2018, 72: 895-899. PMID: 29941221, DOI: 10.1053/j.ajkd.2018.05.006.
- Couto PP, Bastos-Rodrigues L, Schayek H, Melo FM, Lisboa RGC, Miranda DM, Vilhena A, Bale AE, Friedman E, De Marco L. Spectrum of germline mutations in smokers and non-smokers in Brazilian non-small-cell lung cancer (NSCLC) patients. Carcinogenesis 2017, 38: 1112-1118. PMID: 28968711, DOI: 10.1093/carcin/bgx089.
- Lee EJ, Dykas DJ, Leavitt AD, Camire RM, Ebberink E, García de Frutos P, Gnanasambandan K, Gu SX, Huntington JA, Lentz SR, Mertens K, Parish CR, Rezaie AR, Sayeski PP, Cromwell C, Bar N, Halene S, Neparidze N, Parker TL, Burns AJ, Dumont A, Yao X, Chaar CIO, Connors JM, Bale AE, Lee AI. Whole-exome sequencing in evaluation of patients with venous thromboembolism. Blood Advances 2017, 1: 1224-1237. PMID: 29296762, PMCID: PMC5728544, DOI: 10.1182/bloodadvances.2017005249.
- Cartmel B, Bale AE, Mayne ST, Gelernter JE, DeWan AT, Spain P, Leffell DJ, Pagoto S, Ferrucci LM. Predictors of tanning dependence in white non‐Hispanic females and males. Journal Of The European Academy Of Dermatology And Venereology 2017, 31: 1223-1228. PMID: 28129487, PMCID: PMC5522341, DOI: 10.1111/jdv.14138.
- Seidelmann SB, Smith E, Subrahmanyan L, Dykas D, Abou Ziki MD, Azari B, Hannah-Shmouni F, Jiang Y, Akar JG, Marieb M, Jacoby D, Bale AE, Lifton RP, Mani A. Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults. Circulation Genomic And Precision Medicine 2017, 10: e001573. PMID: 28087566, PMCID: PMC5245580, DOI: 10.1161/circgenetics.116.001573.
- ZIAI J, MATLOFF E, CHOI J, KOMBO N, MATERIN M, BALE AE. Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations. Genetics Research 2016, 98: e5. PMID: 26947005, PMCID: PMC6865171, DOI: 10.1017/s0016672316000021.
- Cartmel B, Mayne S, Bale A, Gelernter J, DeWan A, Leffell D, Pagoto S, Spain P, Ferrucci L. Predictors of tanning dependence in white non-hispanic females and males. Dermatology Online Journal 2016, 22 DOI: 10.5070/d3229032556.
- Zhang Y, Cartmel B, Choy C, Molinaro A, Leffell D, Bale A, Mayne S, Ferucci L. Body mass index, height and early-onset basal cell carcinoma in a case-control study. Dermatology Online Journal 2016, 22 DOI: 10.5070/d3229032524.
- Cartmel B, Dewan A, Ferrucci LM, Gelernter J, Stapleton J, Leffell DJ, Mayne ST, Bale AE. Novel gene identified in an exome‐wide association study of tanning dependence. Experimental Dermatology 2014, 23: 757-759. PMID: 25041255, PMCID: PMC4204712, DOI: 10.1111/exd.12503.
- Vilarinho S, Choi M, Jain D, Malhotra A, Kulkarni S, Pashankar D, Phatak U, Patel M, Bale A, Mane S, Lifton RP, Mistry PK. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. Journal Of Hepatology 2014, 61: 1056-1063. PMID: 25016221, PMCID: PMC4203706, DOI: 10.1016/j.jhep.2014.06.038.
- Troche JR, Ferrucci LM, Cartmel B, Leffell DJ, Bale AE, Mayne ST. Systemic glucocorticoid use and early-onset basal cell carcinoma. Annals Of Epidemiology 2014, 24: 625-627. PMID: 24958637, PMCID: PMC4119504, DOI: 10.1016/j.annepidem.2014.05.009.
- CARNEIRO JG, COUTO PG, BASTOS-RODRIGUES L, BICALHO MA, VIDIGAL PV, VILHENA A, AMARAL NF, BALE AE, FRIEDMAN E, DE MARCO L. Spectrum of somatic EGFR, KRAS, BRAF, PTEN mutations and TTF-1 expression in Brazilian lung cancer patients. Genetics Research 2014, 96: e002. PMID: 24594201, PMCID: PMC7045132, DOI: 10.1017/s0016672314000032.
- Giannini C, Man C, Groop L, Cobelli C, Zhao H, Shaw MM, Duran E, Pierpont B, Bale AE, Caprio S, Santoro N. Co-occurrence of Risk Alleles in or Near Genes Modulating Insulin Secretion Predisposes Obese Youth to Prediabetes. Diabetes Care 2014, 37: 475-482. PMID: 24062323, PMCID: PMC3898754, DOI: 10.2337/dc13-1458.
- Cartmel B, Ferrucci LM, Spain P, Bale AE, Pagoto SL, Leffell DJ, Gelernter J, Mayne ST. Indoor Tanning and Tanning Dependence in Young People After a Diagnosis of Basal Cell Carcinoma. JAMA Dermatology 2013, 149: 1110-1111. PMID: 23824273, PMCID: PMC3782995, DOI: 10.1001/jamadermatol.2013.5104.
- Hofstatter EW, Bale AE. The Promise and Pitfalls of Genomics-Driven Cancer Medicine. The AMA Journal Of Ethic 2013, 15: 681. PMID: 23937784, DOI: 10.1001/virtualmentor.2013.15.8.stas1-1308.
- Shifrin A, Bale A, Dykas D, Fay A, Belitsis K, Fomin S, Lann D, Villanueva R, Zheng M, Govil S, Erler B, Matulewicz T, Topilow A, Krasna M, Vernick J. MEN1 gene mutations with different phenotypic presentations in two families: Is it a time to grade MEN1 mutations as high-risk and low-risk? Journal Of Clinical Oncology 2012, 30: 1540-1540. DOI: 10.1200/jco.2012.30.15_suppl.1540.
- Dykas D, Bale A. PCR Based Diagnosis of Fragile X Syndrome. 2012, 363-372. DOI: 10.1007/978-1-4614-2170-2_24.
- Lostritto K, Ferrucci LM, Cartmel B, Leffell DJ, Molinaro AM, Bale AE, Mayne ST. Lifetime history of indoor tanning in young people: a retrospective assessment of initiation, persistence, and correlates. BMC Public Health 2012, 12: 118. PMID: 22324969, PMCID: PMC3340300, DOI: 10.1186/1471-2458-12-118.
- Heffelfinger C, Ouyang Z, Engberg A, Leffell DJ, Hanlon AM, Gordon PB, Zheng W, Zhao H, Snyder MP, Bale AE. Correlation of Global MicroRNA Expression With Basal Cell Carcinoma Subtype. G3: Genes, Genomes, Genetics 2012, 2: 279-286. PMID: 22384406, PMCID: PMC3284335, DOI: 10.1534/g3.111.001115.
- Santoro N, Zhang CK, Zhao H, Pakstis AJ, Kim G, Kursawe R, Dykas DJ, Bale AE, Giannini C, Pierpont B, Shaw MM, Groop L, Caprio S. Variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents. Hepatology 2011, 55: 781-789. PMID: 22105854, PMCID: PMC3288435, DOI: 10.1002/hep.24806.
- Ferrucci LM, Cartmel B, Molinaro AM, Leffell DJ, Bale AE, Mayne ST. Indoor tanning and risk of early-onset basal cell carcinoma. Journal Of The American Academy Of Dermatology 2011, 67: 552-562. PMID: 22153793, PMCID: PMC3307842, DOI: 10.1016/j.jaad.2011.11.940.
- Ferrucci LM, Cartmel B, Molinaro AM, Gordon PB, Leffell DJ, Bale AE, Mayne ST. Host Phenotype Characteristics and MC1R in Relation to Early-Onset Basal Cell Carcinoma. Journal Of Investigative Dermatology 2011, 132: 1272-1279. PMID: 22158557, PMCID: PMC3305835, DOI: 10.1038/jid.2011.402.
- Wang NJ, Sanborn Z, Arnett KL, Bayston LJ, Liao W, Proby CM, Leigh IM, Collisson EA, Gordon PB, Jakkula L, Pennypacker S, Zou Y, Sharma M, North JP, Vemula SS, Mauro TM, Neuhaus IM, LeBoit PE, Hur JS, Park K, Huh N, Kwok PY, Arron ST, Massion PP, Bale AE, Haussler D, Cleaver JE, Gray JW, Spellman PT, South AP, Aster JC, Blacklow SC, Cho RJ. Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma. Proceedings Of The National Academy Of Sciences Of The United States Of America 2011, 108: 17761-17766. PMID: 22006338, PMCID: PMC3203814, DOI: 10.1073/pnas.1114669108.
- Williams SA, Wilson JB, Clark AP, Mitson-Salazar A, Tomashevski A, Ananth S, Glazer PM, Semmes OJ, Bale AE, Jones NJ, Kupfer GM. Functional and physical interaction between the mismatch repair and FA-BRCA pathways. Human Molecular Genetics 2011, 20: 4395-4410. PMID: 21865299, PMCID: PMC3196888, DOI: 10.1093/hmg/ddr366.
- Bonadies DC, Bale AE. Hereditary Melanoma. Current Problems In Cancer 2011, 35: 162-172. PMID: 21911180, DOI: 10.1016/j.currproblcancer.2011.07.001.
- Jensen AL, Florell SR, Vanderhooft SL, Bale AE. Basal Cell Carcinoma Arising in a Nevus Sebaceus in a Child with Facial Trichoepitheliomas. Pediatric Dermatology 2011, 28: 138-141. PMID: 20738793, DOI: 10.1111/j.1525-1470.2010.01227.x.
- Williams S, Wilson J, Clark A, Mitson-Salazar A, Bale A, Jones N, Kupfer G. Functional and Physical Interaction Between the Mismatch Repair and the FA-BRCA Pathways. Blood 2010, 116: 3370. DOI: 10.1182/blood.v116.21.3370.3370.
- Santoro N, Kursawe R, D'Adamo E, Dykas DJ, Zhang CK, Bale AE, Calí AM, Narayan D, Shaw MM, Pierpont B, Savoye M, Lartaud D, Eldrich S, Cushman SW, Zhao H, Shulman GI, Caprio S. A common variant in the patatin‐like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents. Hepatology 2010, 52: 1281-1290. PMID: 20803499, PMCID: PMC3221304, DOI: 10.1002/hep.23832.
- Kottemann MC, Bale AE. Characterization of DNA damage-dependent cell cycle checkpoints in a menin-deficient model. DNA Repair 2009, 8: 944-952. PMID: 19608464, PMCID: PMC2745199, DOI: 10.1016/j.dnarep.2009.06.001.
- Marek LR, Kottemann MC, Glazer PM, Bale AE. MEN1 and FANCD2 mediate distinct mechanisms of DNA crosslink repair. DNA Repair 2008, 7: 476-486. PMID: 18258493, PMCID: PMC2277339, DOI: 10.1016/j.dnarep.2007.12.009.
- Pearce CL, Wu AH, Gayther SA, Bale AE, Beck P, Beesley J, Chanock S, Cramer D, DiCioccio R, Edwards R, Fredericksen Z, Garcia-Closas M, Goode E, Green A, Hartmann L, Hogdall E, Kjær S, Lissowska J, McGuire V, Modugno F, Moysich K, Ness R, Ramus S, Risch H, Sellers T, Song H, Stram D, Terry K, Webb P, Whiteman D, Whittemore A, Zheng W, Pharoah P, Chenevix-Trench G, Pike M, Schildkraut J, Berchuck A, on behalf of the Ovarian Cancer Association Consortium (OCAC). Progesterone receptor variation and risk of ovarian cancer is limited to the invasive endometrioid subtype: results from the ovarian cancer association consortium pooled analysis. British Journal Of Cancer 2008, 98: 282-288. PMID: 18219286, PMCID: PMC2361465, DOI: 10.1038/sj.bjc.6604170.
- Busygina V, Bale AE. Multiple endocrine neoplasia type 1 (MEN1) as a cancer predisposition syndrome: clues into the mechanisms of MEN1-related carcinogenesis. The Yale Journal Of Biology And Medicine 2006, 79: 105-14. PMID: 17940620, PMCID: PMC1994794.
- Brailey L, Davis T, Kolker S, Murry T, Thomas D, Bale A, Ruhoy S. Congenital linear unilateral basal cell nevus: a case report with patched gene molecular studies. Journal Of Cutaneous Pathology 2006, 34: 65-70. PMID: 17214858, DOI: 10.1111/j.1600-0560.2006.00580.x.
- Klein RD, Thorland EC, Gonzales PR, Beck PA, Dykas DJ, McGrath JM, Bale AE. A Multiplex Assay for the Detection and Mapping of Complex Glycerol Kinase Deficiency. Clinical Chemistry 2006, 52: 1864-1870. PMID: 16887896, DOI: 10.1373/clinchem.2006.072397.
- Cajaiba MM, Bale AE, Alvarez-Franco M, McNamara J, Reyes-Múgica M. Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome. Nature Reviews Clinical Oncology 2006, 3: 575-580. PMID: 17019435, DOI: 10.1038/ncponc0608.
- Pejovic T, Yates JE, Liu HY, Hays LE, Akkari Y, Torimaru Y, Keeble W, Rathbun RK, Rodgers WH, Bale AE, Ameziane N, Zwaan CM, Errami A, Thuillier P, Cappuccini F, Olson SB, Cain JM, Bagby GC. Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer. Cancer Research 2006, 66: 9017-9025. PMID: 16982743, DOI: 10.1158/0008-5472.can-06-0222.
- Risch HA, Bale AE, Beck PA, Zheng W. PGR +331 A/G and Increased Risk of Epithelial Ovarian Cancer. Cancer Epidemiology Biomarkers & Prevention 2006, 15: 1738-1741. PMID: 16985038, DOI: 10.1158/1055-9965.epi-06-0272.
- Busygina V, Kottemann MC, Scott KL, Plon SE, Bale AE. Multiple Endocrine Neoplasia Type 1 Interacts with Forkhead Transcription Factor CHES1 in DNA Damage Response. Cancer Research 2006, 66: 8397-8403. PMID: 16951149, DOI: 10.1158/0008-5472.can-06-0061.
- Marek LR, Bale AE. Drosophila homologs of FANCD2 and FANCL function in DNA repair. DNA Repair 2006, 5: 1317-1326. PMID: 16860002, DOI: 10.1016/j.dnarep.2006.05.044.
- Yamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene. Human Mutation 2006, 27: 626-632. PMID: 16786505, DOI: 10.1002/humu.20339.
- Klein RD, Dykas DJ, Bale AE. Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genetics In Medicine 2005, 7: 611-619. PMID: 16301862, DOI: 10.1097/01.gim.0000182879.57182.b4.
- Cooper AF, Yu KP, Brueckner M, Brailey LL, Johnson L, McGrath JM, Bale AE. Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fused. Development 2005, 132: 4407-4417. PMID: 16155214, DOI: 10.1242/dev.02021.
- Klein RD, Salih S, Bessoni J, Bale AE. Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genetics In Medicine 2005, 7: 131-138. PMID: 15714081, DOI: 10.1097/01.gim.0000153663.62300.f8.
- Busygina V, Suphapeetiporn K, Marek LR, Stowers RS, Xu T, Bale AE. Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1. Human Molecular Genetics 2004, 13: 2399-2408. PMID: 15333582, DOI: 10.1093/hmg/ddh271.
- Choi DH, Lee MH, Bale AE, Carter D, Haffty BG. Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer Patients. Journal Of Clinical Oncology 2004, 22: 1638-1645. PMID: 15117986, DOI: 10.1200/jco.2004.04.179.
- Bale A. The hedgehog pathway and developmental disorders. 2003, 258-272. DOI: 10.4324/9780203450420-14.
- Kim S, Rimm D, Carter D, Khan A, Parisot N, Franco MA, Bale A, Haffty BG. BRCA Status, Molecular Markers, and Clinical Variables in Early, Conservatively Managed Breast Cancer. The Breast Journal 2003, 9: 167-174. PMID: 12752624, DOI: 10.1046/j.1524-4741.2003.09307.x.
- Barreto D, Bale A, De Marco L, Gomez R. Immunolocalization of PTCH Protein in Odontogenic Cysts and Tumors. Journal Of Dental Research 2002, 81: 757-760. PMID: 12407090, DOI: 10.1177/0810757.
- Barreto D, Bale A, De Marco L, Gomez R. Immunolocalization of PTCH Protein in Odontogenic Cysts and Tumors. Journal Of Dental Research 2002, 81: 757-760. DOI: 10.1177/154405910208101107.
- Suphapeetiporn K, Greally JM, Walpita D, Ashley T, Bale AE. MEN1 tumor‐suppressor protein localizes to telomeres during meiosis. Genes Chromosomes And Cancer 2002, 35: 81-85. PMID: 12203793, DOI: 10.1002/gcc.10113.
- Ernest S, Christensen B, Gilfix BM, Mamer OA, Hosack A, Rodier M, Colmenares C, McGrath J, Bale A, Balling R, Sankoff D, Rosenblatt DS, Nadeau JH. Genetic and molecular control of folate-homocysteine metabolism in mutant mice. Mammalian Genome : Official Journal Of The International Mammalian Genome Society 2002, 13: 259-67. PMID: 12016514, DOI: 10.1007/s00335-001-3054-2.
- Bale AE. HEDGEHOG SIGNALING AND HUMAN DISEASE. Annual Review Of Genomics And Human Genetics 2002, 3: 47-65. PMID: 12142354, DOI: 10.1146/annurev.genom.3.022502.103031.
- Haffty BG, Harrold E, Khan AJ, Pathare P, Smith TE, Turner BC, Glazer PM, Ward B, Carter D, Matloff E, Bale AE, Alvarez-Franco M. Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status. The Lancet 2002, 359: 1471-1477. PMID: 11988246, DOI: 10.1016/s0140-6736(02)08434-9.
- Llort G, Muñoz CY, Tuser MP, Guillermo IB, Lluch JR, Bale AE, Franco MA. Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain. Human Mutation 2002, 19: 307-307. PMID: 11857748, DOI: 10.1002/humu.9014.
- Bale A. Patched. 2002 DOI: 10.1002/0471203076.emm1095.
- Kim S, Rimm D, Carter D, Khan A, Parisot N, Franco M, Bale A, Haffty B. Correlations between BRCA status, molecular markers and clinical variables in early onset conservatively managed breast cancer. International Journal Of Radiation Oncology • Biology • Physics 2001, 51: 193. DOI: 10.1016/s0360-3016(01)02175-7.
- Bale A, Yu K. The hedgehog pathway and basal cell carcinomas. Human Molecular Genetics 2001, 10: 757-762. PMID: 11257109, DOI: 10.1093/hmg/10.7.757.
- Petty E, Glynn M, Bale A. Direct Molecular Diagnosis of Multiple Endocrine Neoplasia Type 1. Methods In Molecular Medicine 2001, 49: 227-242. PMID: 21370144, DOI: 10.1385/1-59259-081-0:227.
- Bale A. Sheep, lilies and human genetics. Nature 2000, 406: 944-945. PMID: 10984033, DOI: 10.1038/35023197.
- Dong J, Gailani M, Pomeroy S, Reardon D, Bale A. Identification of PATCHED mutations in medulloblastomas by direct sequencing. Human Mutation 2000, 16: 89-90. PMID: 10874314, DOI: 10.1002/1098-1004(200007)16:1<89::aid-humu18>3.0.co;2-7.
- Barreto D, Gomez R, Bale A, Boson W, De Marco L. PTCH Gene Mutations in Odontogenic Keratocysts. Journal Of Dental Research 2000, 79: 1418-1422. PMID: 10890722, DOI: 10.1177/00220345000790061101.
- Haffy B, Harrold E, Khan A, Pathare P, Ward B, Matloff E, Alvarez-Franco M, Bale A. Conservatively managed breast cancer in young women: outcome as a function of BRCA 12 status. International Journal Of Radiation Oncology • Biology • Physics 2000, 48: 142. DOI: 10.1016/s0360-3016(00)80078-4.
- Wicking C, Smyth I, Bale A. The hedgehog signalling pathway in tumorigenesis and development. Oncogene 1999, 18: 7844-7851. PMID: 10630637, DOI: 10.1038/sj.onc.1203282.
- Bale A. Prenatal diagnosis of ornithine transcarbamylase deficiency. Prenatal Diagnosis 1999, 19: 1052-1054. PMID: 10589058, DOI: 10.1002/(sici)1097-0223(199911)19:11<1052::aid-pd693>3.0.co;2-2.
- Raymond K, Bale A, Barnes A, Rinaldo P. Medium-chain acyl-CoA dehydrogenase deficiency: Sudden and unexpected death of a 45 year old woman. Genetics In Medicine 1999, 1: 293-294. PMID: 11258631, DOI: 10.1097/00125817-199909000-00008.
- Heptulla R, Schwartz R, Bale A, Flynn S, Genel M. Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children. The Journal Of Pediatrics 1999, 135: 327-331. PMID: 10484798, DOI: 10.1016/s0022-3476(99)70129-0.
- Petroianu A, Boson W, Bale A, Friedman E, De Marco L. Mutational Analyses of Candidate Genes in Human Squamous Cell Carcinomas. The Laryngoscope 1999, 109: 661-663. PMID: 10201760, DOI: 10.1097/00005537-199904000-00027.
- Topaloglu A, Sansaricq C, Fox J, Bale A, Tuchman M, Desnick R. Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G. Journal Of Inherited Metabolic Disease 1999, 22: 82-83. PMID: 10070622, DOI: 10.1023/a:1005411601985.
- Gailani M, Bale A. Acquired and inherited basal cell carcinomas and the patched gene. Advances In Dermatology 1999, 14: 261-83; discussion 284. PMID: 10643501.
- Wicking C, Bale A. Molecular basis of the nevoid basal cell carcinoma syndrome. Current Opinion In Pediatrics 1997, 9: 630-635. PMID: 9425597, DOI: 10.1097/00008480-199712000-00013.
- Gailani M, Bale A. Developmental Genes and Cancer: Role of Patched in Basal Cell Carcinoma of the Skin. Journal Of The National Cancer Institute 1997, 89: 1103-1109. PMID: 9262247, DOI: 10.1093/jnci/89.15.1103.
- Walter A, Pivnick E, Bale A, Kun L. Complications of the Nevoid Basal Cell Carcinoma Syndrome. Journal Of Pediatric Hematology/Oncology 1997, 19: 258-262. PMID: 9201152, DOI: 10.1097/00043426-199705000-00016.
- Kimonis V, Goldstein A, Pastakia B, Yang M, Kase R, DiGiovanna J, Bale A, Bale S. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. American Journal Of Medical Genetics 1997, 69: 299-308. PMID: 9096761, DOI: 10.1002/(sici)1096-8628(19970331)69:3<299::aid-ajmg16>3.0.co;2-m.
- Chidambaram A, Gailani M, Gerrard B, Stewart C, Goldstein A, Chumakov I, Bale A, Dean M. Characterization of a YAC contig containing the NBCCS locus and a novel Kruppel‐type zinc finger sequence on chromosome segment 9q22.3. Genes Chromosomes And Cancer 1997, 18: 212-218. PMID: 9071574, DOI: 10.1002/(sici)1098-2264(199703)18:3<212::aid-gcc7>3.0.co;2-4.
- Levanat S, Chidambaram A, Wicking C, Bray-Ward P, Pressman C, Toftgard R, Gailani M, Myers J, Wainwright B, Dean M, Bale A. Pulsed-field gel electrophoresis and FISH mapping of chromosome 9q22: placement of a novel zinc finger gene within the NBCCS and ESS1 region. Cytogenetic And Genome Research 1997, 76: 208-213. PMID: 9186526, DOI: 10.1159/000134551.
- Bale A. The Nevoid Basal Cell Carcinoma Syndrome: Genetics and Mechanism of Carcinogenesis. Cancer Investigation 1997, 15: 180-186. PMID: 9095215, DOI: 10.3109/07357909709115772.
- Chidambaram A, Goldstein AM, Gailani MR, Gerrard B, Bale SJ, DiGiovanna JJ, Bale AE, Dean M. Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. Cancer Research 1996, 56: 4599-601. PMID: 8840969.
- Gailani M, Ståhle-Bäckdahl M, Leffell D, Glyn M, Zaphiropoulos P, Undén A, Dean M, Brash D, Bale A, Toftgård R. The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. Nature Genetics 1996, 14: 78-81. PMID: 8782823, DOI: 10.1038/ng0996-78.
- Shimkets R, Gailani M, Siu V, Yang-Feng T, Pressman C, Levanat S, Goldstein A, Dean M, Bale A. Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients. American Journal Of Human Genetics 1996, 59: 417-22. PMID: 8755929, PMCID: PMC1914731.
- Baskaran N, Kandpal R, Bhargava A, Glynn M, Bale A, Weissman S. Uniform amplification of a mixture of deoxyribonucleic acids with varying GC content. Genome Research 1996, 6: 633-638. PMID: 8796351, DOI: 10.1101/gr.6.7.633.
- Hahn H, Wicking C, Zaphiropoulos P, Gailani M, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden A, Gillies S, Negus K, Smyth I, Pressman C, Leffell D, Gerrard B, Goldstein A, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale A. Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome. Cell 1996, 85: 841-851. PMID: 8681379, DOI: 10.1016/s0092-8674(00)81268-4.
- Hahn H, Christiansen J, Wicking C, Zaphiropoulos P, Chidambaram A, Gerrard B, Vorechovsky I, Bale A, Toftgard R, Dean M, Wainwright B. A Mammalian patched Homolog Is Expressed in Target Tissues of sonic hedgehog and Maps to a Region Associated with Developmental Abnormalities (∗). Journal Of Biological Chemistry 1996, 271: 12125-12128. PMID: 8647801, DOI: 10.1074/jbc.271.21.12125.
- Kimonis V, Goldstein A, Pastakia B, Yang M, Kase R, DiGiovanna J, Bale A, Bale S. CLINICAL FEATURES IN CHILDREN WITH NEVOID BASAL CELL CARCINOMA SYNDROME.• 863. Pediatric Research 1996, 39: 146-146. DOI: 10.1203/00006450-199604001-00885.
- Gailani M, Leffell D, Ziegler A, Gross E, Brash D, Bale A. Relationship Between Sunlight Exposure and a Key Genetic Alteration in Basal Cell Carcinoma. Journal Of The National Cancer Institute 1996, 88: 349-354. PMID: 8609643, DOI: 10.1093/jnci/88.6.349.
- PERICAK‐VANCE M, BALE A, HAINES J, KWIATKOWSKI D, PILZ A, SLAUGENHAUPT S, WHITE J, EDWARDS J, MARCHUK D, OLOPADE O, ATTWOOD J, POVEY S. REPORT on the Fourth International Workshop on Chromosome 9: held at Williamsburg, Virginia, USA, April 23–25, 1995. Annals Of Human Genetics 1995, 59: 347-365. PMID: 8579331, DOI: 10.1111/j.1469-1809.1995.tb00756.x.
- Johnson D, Levanat S, Bale A. Direct molecular analysis of archival tumor tissue for loss of heterozygosity. BioTechniques 1995, 19: 190-2. PMID: 8527133.
- Bale A, Gailani M, Leffell D. The Gorlin syndrome gene: a tumor suppressor active in basal cell carcinogenesis and embryonic development. Proceedings Of The Association Of American Physicians 1995, 107: 253-7. PMID: 8624861.
- Litt M, Kramer P, Kort E, Fain P, Cox S, Root D, White R, Weissenbach J, Donis-Keller H, Gatti R, Weber J, Nakamura Y, Julier C, Hayashi K, Spurr N, Dean M, Mandel J, Kidd K, Kruse T, Retief A, Bale A, Meo T, Vergnaud G, Warren S, Willard H. The CEPH Consortium Linkage Map of Human Chromosome 11. Genomics 1995, 27: 101-112. PMID: 7665156, DOI: 10.1006/geno.1995.1011.
- Cox D, Billingsley G, Bale A, Donis-Keller H, Edwards J, Litt M, Mcbride W, Persichetti F, Spurr N, Weber J, Weissenbach J, White R. CEPH Consortium Map of Chromosome 14. Cytogenetic And Genome Research 1995, 69: 175-178. PMID: 7698005, DOI: 10.1159/000133955.
- Bale A, Gailani M, Leffell D. Nevoid basal cell carcinoma syndrome. Journal Of Investigative Dermatology 1994, 103: 126s-130s. PMID: 7963674, DOI: 10.1111/1523-1747.ep12399438.
- Bale A, Gailani M, Leffell D. Nevoid Basal Cell Carcinoma Syndrome. Journal Of Investigative Dermatology 1994, 103: s126-s130. DOI: 10.1038/jid.1994.23.
- Friedman E, Bale A, Carson E, Boson W, Nordenskjöld M, Ritzén M, Ferreira P, Jammal A, De Marco L. Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal. Proceedings Of The National Academy Of Sciences Of The United States Of America 1994, 91: 8457-8461. PMID: 8078903, PMCID: PMC44625, DOI: 10.1073/pnas.91.18.8457.
- Compton J, Kearns K, Bale S, Goldstein A, Turner M, Bale A, McBride O. Fine Mapping of the Locus for Nevoid Basal Cell Carcinoma Syndrome on Chromosome 9q. Journal Of Investigative Dermatology 1994, 103: 178-181. PMID: 8040607, DOI: 10.1111/1523-1747.ep12392682.
- Petty E, Green J, Marx S, Taggart R, Farid N, Bale A. Mapping the gene for hereditary hyperparathyroidism and prolactinoma (MEN1Burin) to chromosome 11q: evidence for a founder effect in patients from Newfoundland. American Journal Of Human Genetics 1994, 54: 1060-6. PMID: 7911003, PMCID: PMC1918205.
- Goldstein A, Stewart C, Bale A, Bale S, Dean M. Localization of the gene for the nevoid basal cell carcinoma syndrome. American Journal Of Human Genetics 1994, 54: 765-73. PMID: 7909984, PMCID: PMC1918262.
- Goldstein A, Pastakia B, Digiovanna J, Poliak S, Santucci S, Kase R, Bale A, Bale S. Clinical findings in two African‐American families with the nevoid basal cell carcinoma syndrome (NBCC). American Journal Of Medical Genetics 1994, 50: 272-281. PMID: 8042672, DOI: 10.1002/ajmg.1320500311.
- Bale A. Molecular Mechanisms of Neoplasia in Multiple Endocrine Neoplasia Type 1-Related and Sporadic Tumors of the Pancreatic Islet Cells. Endocrinology And Metabolism Clinics Of North America 1994, 23: 109-115. PMID: 7913019, DOI: 10.1016/s0889-8529(18)30119-1.
- Petty E, Gibson L, Fountain J, Bolognia J, Yang-Feng T, Housman D, Bale A. Molecular definition of a chromosome 9p21 germ-line deletion in a woman with multiple melanomas and a plexiform neurofibroma: implications for 9p tumor-suppressor gene(s). American Journal Of Human Genetics 1993, 53: 96-104. PMID: 8317504, PMCID: PMC1682234.
- Petty E, Arnold A, Marx S, Bale A. A Pulsed-Field Gel Electrophoresis (PFGE) Map of Twelve Loci on Chromosome 11q11-q13. Genomics 1993, 15: 423-425. PMID: 8449512, DOI: 10.1006/geno.1993.1080.
- Kwiatkowski D, Armour J, Bale A, Fountain J, Goudie D, Haines J, Knowles M, Pilz A, Slaugenhaupt S, Povey S. Report of the Second International Workshop on Human Chromosome 9 Mapping 1993. Cytogenetic And Genome Research 1993, 64: 93-121. PMID: 8334899, DOI: 10.1159/000133566.
- Falchetti A, Bale A, Amorosi A, Bordi C, Cicchi P, Bandini S, Marx S, Brandi M. Progression of uremic hyperparathyroidism involves allelic loss on chromosome 11. The Journal Of Clinical Endocrinology & Metabolism 1993, 76: 139-144. PMID: 8421078, DOI: 10.1210/jcem.76.1.8421078.
- Petty E, Bolognia J, Bale A, Yang‐Feng T. Cutaneous malignant melanoma and atypical moles associated with a constitutional rearrangement of chromosomes 5 and 9. American Journal Of Medical Genetics 1993, 45: 77-80. PMID: 8418665, DOI: 10.1002/ajmg.1320450119.
- Friedman E, De Marco L, Gejman P, Norton J, Bale A, Aurbach G, Spiegel A, Marx S. Allelic loss from chromosome 11 in parathyroid tumors. Cancer Research 1992, 52: 6804-9. PMID: 1360870.
- Petty E, Gold E, Bale A. DNA Diagnosis with Mutation-Specific Artificial Methylation Sites: Application to Rapid Screening of Δ F508. Clinical Chemistry 1992, 38: 2422-2425. PMID: 1458578, DOI: 10.1093/clinchem/38.12.2422.
- Spurr N, Cox S, Bryant S, Attwood J, Robson E, Shields D, Steinbrueck T, Jenkins T, Murray J, Kidd K, Summar M, Tsipouras P, Retief A, Kruse T, Bale A, Vergnaud G, Weber J, McBride O, Donis-Keller H, White R. The CEPH consortium linkage map of human chromosome 2. Genomics 1992, 14: 1055-1063. PMID: 1478647, DOI: 10.1016/s0888-7543(05)80129-6.
- Cannon-Albright L, Goldgar D, Meyer L, Lewis C, Anderson D, Fountain J, Hegi M, Wiseman R, Petty E, Bale A, Olopade O, Diaz M, Kwiatkowski D, Piepkorn M, Zone J, Skolnick M. Assignment of a Locus for Familial Melanoma, MLM, to Chromosome 9p13-p22. Science 1992, 258: 1148-1152. PMID: 1439824, DOI: 10.1126/science.1439824.
- POVEY S, SMITH M, HAINES J, KWIATKOWSKI D, FOUNTAIN J, BALE A, ABBOTT C, JACKSON I, LAWRIE M, HULTÉN M. REPORT on the First International Workshop on Chromosome 9 held at Girton College Cambridge, UK, 22–24 March, 1992. Annals Of Human Genetics 1992, 56: 167-182. PMID: 1449236, DOI: 10.1111/j.1469-1809.1992.tb01145.x.
- Brandi M, Falchetti A, Amorosi A, Bordli C, Cicchi P, Bandini S, Eubanks∘ J, Evans∘ G, Marx∘∘ S, Bale A. Use of a highly polymorphic locus on human chromosome Hq13 discloses allelic loss in parathyroid tissues from uremic patients. Bone And Mineral 1992, 17: 69. DOI: 10.1016/0169-6009(92)91643-w.
- Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9Gailani M, Bale S, Leffell D, DiGiovanna J, Peck G, Poliak S, Drum M, Pastakia B, McBride O, Kase R, Greene M, Mulvihill J, Bale A. Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. Cell 1992, 69: 111-117. PMID: 1348213, DOI: 10.1016/0092-8674(92)90122-s.
- Mitchell A, Bale A, Lee B, Hatfield D, Harley H, Rundle S, Fan Y, Fukushima Y, Shows T, McBride O. Regional localization of the selenocysteine tRNA gene (TRSP) on human chromosome 19. Cytogenetic And Genome Research 1992, 61: 117-120. PMID: 1395717, DOI: 10.1159/000133385.
- Arnold A, Motokura T, Bloom T, Rosenberg C, Bale A, Kronenberg H, Ruderman J, Brown M, Kim H. PRAD1 (cyclin D1): a parathyroid neoplasia gene on 11q13. Henry Ford Hospital Medical Journal 1992, 40: 177-80. PMID: 1483873.
- Mitchell A, Bale A, Wang-ge M, Yi H, White R, Pirtle R, McBride O. Localization of a DNA segment encompassing four tRNA genes to human chromosome 14q11 and its use as an anchor locus for linkage analysis. Genomics 1991, 11: 1063-1070. PMID: 1686015, DOI: 10.1016/0888-7543(91)90033-b.
- Rosenberg C, Wong E, Petty E, Bale A, Tsujimoto Y, Harris N, Arnold A. PRAD1, a candidate BCL1 oncogene: mapping and expression in centrocytic lymphoma. Proceedings Of The National Academy Of Sciences Of The United States Of America 1991, 88: 9638-9642. PMID: 1682919, PMCID: PMC52773, DOI: 10.1073/pnas.88.21.9638.
- Bowcock A, Farrer L, Hebert J, Bale A, Cavalli-Sforza L. A contiguous linkage map of chromosome 13q with 39 distinct loci separated on average by 5.1 centimorgans. Genomics 1991, 11: 517-529. PMID: 1685473, DOI: 10.1016/0888-7543(91)90058-m.
- Bale S, Amos C, Parry D, Bale A. Relationship between head circumference and height in normal adults and in the nevoid basal cell carcinoma syndrome and neurofibromatosis type I. American Journal Of Medical Genetics 1991, 40: 206-210. PMID: 1910262, DOI: 10.1002/ajmg.1320400217.
- Farrer L, Bowcock A, Hebert J, Bonne-Tamir B, Sternlieb I, Giagheddu M, George-Hyslop P, Frydman M, Lossner J, Demelia L, Carcassi C, Lee R, Beker R, Bale A, Donis-Keller H, Scheinberg I, Cavalli-Sforza L. Predictive testing for Wilson's disease using tightly linked and flanking DNA markers. Neurology 1991, 41: 992-9. PMID: 2067662, DOI: 10.1212/wnl.41.7.992.
- Bale A, Mitchell A, Gonzalez F, McBride O. Localization of CYP2F1 by multipoint linkage analysis and pulsed-field gel electrophoresis. Genomics 1991, 10: 284-286. PMID: 2045106, DOI: 10.1016/0888-7543(91)90514-f.
- Petersen D, McKinney C, Ikeya K, Smith H, Bale A, McBride O, Nebert D. Human CYP1A1 gene: cosegregation of the enzyme inducibility phenotype and an RFLP. American Journal Of Human Genetics 1991, 48: 720-5. PMID: 1707592, PMCID: PMC1682951.
- Dracopoli N, O'Connell P, Elsner T, Lalouel J, White R, Buetow K, Nishimura D, Murray J, Helms C, Mishra S, Donis-Keller H, Hall J, Lee M, King M, Attwood J, Morton N, Robson E, Mahtani M, Willard H, Royle N, Patel I, Jeffreys A, Verga V, Jenkins T, Weber J, Mitchell A, Bale A. The CEPH consortium linkage map of human chromosome 1. Genomics 1991, 9: 686-700. PMID: 2037294, DOI: 10.1016/0888-7543(91)90362-i.
- Fein H, Burman K, Djuh Y, Usala S, Bale A, Weintraub B, Smallridge R. Tight linkage of the human c-erbAβ gene with the syndrome of generalized thyroid hormone resistance is present in multiple kindreds. Journal Of Endocrinological Investigation 1991, 14: 219-223. PMID: 1677017, DOI: 10.1007/bf03346792.
- Bale A, Norton J, Wong E, Fryburg J, Maton P, Oldfield E, Streeten E, Aurbach G, Brandi M, Friedman E. Allelic loss on chromosome 11 in hereditary and sporadic tumors related to familial multiple endocrine neoplasia type 1. Cancer Research 1991, 51: 1154-7. PMID: 1671755.
- Petty E, Carstens R, Bale A. Ornithine transcarbamylase polymorphism detected by PCR introduction of Dral site. Nucleic Acids Research 1991, 19: 690-690. PMID: 2011544, PMCID: PMC333689, DOI: 10.1093/nar/19.3.690.
- Usala S, Menke J, Watson T, Bérard W, Bradley C, Bale A, Lash R, Weintraub B. A New Point Mutation in the 3,5,3′-Triiodothyronine-Binding Domain of the c-erbAβ Thyroid Hormone Receptor Is Tightly Linked to Generalized Thyroid Hormone Resistance. The Journal Of Clinical Endocrinology & Metabolism 1991, 72: 32-38. PMID: 1846005, DOI: 10.1210/jcem-72-1-32.
- Friedman E, Bale A, Marx S, Norton J, Arnold A, Tu T, Aurbach G, Spiegel A. Genetic Abnormalities in Sporadic Parathyroid Adenomas. The Journal Of Clinical Endocrinology & Metabolism 1990, 71: 293-297. PMID: 2199477, DOI: 10.1210/jcem-71-2-293.
- NAKAYAMA Y, WONDISFORD F, LASH R, BALE A, WEINTRAUB B, CUTLER G, RADOVICK S. Analysis of Gonadotropin-Releasing Hormone Gene Structure in Families with Familial Central Precocious Puberty and Idiopathic Hypogonadotropic Hypogonadism. The Journal Of Clinical Endocrinology & Metabolism 1990, 70: 1233-1238. PMID: 2186053, DOI: 10.1210/jcem-70-5-1233.
- Usala S, Tennyson G, Bale A, Lash R, Gesundheit N, Wondisford F, Accili D, Hauser P, Weintraub B. A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds. Journal Of Clinical Investigation 1990, 85: 93-100. PMID: 2153155, PMCID: PMC296391, DOI: 10.1172/jci114438.
- Bale A, Bale S, Murli H, Ivett J, Mulvihill J, Parry D. Sister chromatid exchange and chromosome fragility in the nevoid basal cell carcinoma syndrome. Cancer Genetics 1989, 42: 273-279. PMID: 2507127, DOI: 10.1016/0165-4608(89)90095-2.
- Friedman E, Sakaguchi K, Bale A, Falchetti A, Streeten E, Zimering M, Weinstein L, McBride W, Nakamura Y, Brandi M, Norton J, Aurbach G, Spiegel A, Marx S. Clonality of Parathyroid Tumors in Familial Multiple Endocrine Neoplasia Type 1. New England Journal Of Medicine 1989, 321: 213-218. PMID: 2568586, DOI: 10.1056/nejm198907273210402.
- Mitchell A, Bale A, Mak T, McBride O. Six RFLPs for human T cell receptor α (TCRA) on chromosome 14. Nucleic Acids Research 1989, 17: 2876-2876. PMID: 2566151, PMCID: PMC317684, DOI: 10.1093/nar/17.7.2876.
- Linkage analysis of multiple endocrine neoplasia type 1 with INT2 and other markers on chromosome 11Bale S, Bale A, Stewart K, Dachowski L, McBride O, Glaser T, Green J, Mulvihill J, Brandi M, Sakaguchi K, Aurbach G, Marx S. Linkage analysis of multiple endocrine neoplasia type 1 with INT2 and other markers on chromosome 11. Genomics 1989, 4: 320-322. PMID: 2565877, DOI: 10.1016/0888-7543(89)90336-4.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 732–757. Cytogenetic And Genome Research 1989, 51: 732-757. DOI: 10.1159/000227792.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 782–806. Cytogenetic And Genome Research 1989, 51: 782-806. DOI: 10.1159/000227794.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 644–676. Cytogenetic And Genome Research 1989, 51: 644-676. DOI: 10.1159/000227789.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 832–861. Cytogenetic And Genome Research 1989, 51: 832-861. DOI: 10.1159/000227796.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 677–701. Cytogenetic And Genome Research 1989, 51: 677-701. DOI: 10.1159/000227790.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 892–921. Cytogenetic And Genome Research 1989, 51: 892-921. DOI: 10.1159/000227798.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 758–781. Cytogenetic And Genome Research 1989, 51: 758-781. DOI: 10.1159/000227793.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 807–831. Cytogenetic And Genome Research 1989, 51: 807-831. DOI: 10.1159/000227795.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 702–731. Cytogenetic And Genome Research 1989, 51: 702-731. DOI: 10.1159/000227791.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 922–947. Cytogenetic And Genome Research 1989, 51: 922-947. DOI: 10.1159/000227799.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 862–891. Cytogenetic And Genome Research 1989, 51: 862-891. DOI: 10.1159/000227797.
- Kidd KK, Bowcock AM, Schmidtke J, Track RK, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard HF, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 622-643. Cytogenetic And Genome Research 1989, 51: 622-643. PMID: 2676386, DOI: 10.1159/000132810.
- Usala S, Bale A, Gesundheit N, Weinberger C, Lash R, Wondisford F, McBride O, Weintraub B. Tight Linkage between the Syndrome of Generalized Thyroid Hormone Resistance and the Human c-erbAβ Gene. Endocrinology 1988, 2: 1217-1220. PMID: 2905763, DOI: 10.1210/mend-2-12-1217.
- Bale A, Weinberger C, McBride O. A retinoic acid receptor cDNA probe (RAR2) identifies a moderately frequent RFLP on chromosome 17. Nucleic Acids Research 1988, 16: 7755-7755. PMID: 2901069, PMCID: PMC338477, DOI: 10.1093/nar/16.15.7755.
- Bale A, Usala S, Weinberger C, Weintraub B, McBride O. A cDNA probe (PheA12) from the hc-(ERBA) gene on chromosome 3 detects a high frequency RFLP. Nucleic Acids Research 1988, 16: 7756-7756. PMID: 2901070, PMCID: PMC338478, DOI: 10.1093/nar/16.15.7756.
- Bale A, Bale S, Schlesinger S, McFarland H, Opitz J, Reynolds J. Linkage analysis in spinopontine atrophy: Correlation or HLA linkage with phenotypic findings in hereditary ataxia. American Journal Of Medical Genetics 1987, 27: 595-602. PMID: 3477098, DOI: 10.1002/ajmg.1320270312.
- Bale A. Internal Malignancy in Genetic Hemochromatosis. Journal Of The National Cancer Institute 1986, 76: 1260-1261. PMID: 3012180, DOI: 10.1093/jnci/76.6.1260.
- Bale S, Harris E, Bale A. Linkage relationships among four 11p markers in the Utah dataset. Genetic Epidemiology. Supplement 1986, 3: 117-121. PMID: 3471653, DOI: 10.1002/gepi.1370030718.
- Bale A, Drum M, Parry D, Mulvihill J, Opitz J, Reynolds J. Familial Sotos syndrome (cerebral gigantism): Craniofacial and psychological characteristics. American Journal Of Medical Genetics 1985, 20: 613-624. PMID: 2581446, DOI: 10.1002/ajmg.1320200407.
- Bale A, Ludwig I, Effron L, Zakov Z, Opitz J, Reynolds J. Linkage between the genes for Wolfram syndrome and brachydactyly E. American Journal Of Medical Genetics 1985, 20: 733-734. PMID: 3993691, DOI: 10.1002/ajmg.1320200420.
- The “Family Study” Approach to Investigating the Role of Genetic Factors in Nasopharyngeal CarcinomaBale S, Bale A, Levine P. The “Family Study” Approach to Investigating the Role of Genetic Factors in Nasopharyngeal Carcinoma. Developments In Medical Virology 1985, 131-144. DOI: 10.1007/978-1-4613-2625-0_11.
Locations
Yale Genetics
Yale New Haven Hospital
20 York Street, Ste West Pavilion 2nd Floor
New Haven, CT 06510
- Yale GeneticsYale New Haven Hospital20 York Street, Ste West Pavilion 2nd FloorNew Haven, CT 06510
Biography
Allen Bale, MD, is a clinical geneticist who has spent nearly three decades investigating cancer predisposition syndromes, which occur when a person inherits one or more genes that predispose him or her to cancer. For example, one of the better-known genes that can be inherited with a mutation is the BRCA1 gene. A mutation in this gene increases the risk that a person will develop breast cancer.
Dr. Bale also oversees clinical genome sequencing at the Yale Center for Genome Analysis. His research replies on the latest “DNA sequencing technology for the discovery of new human disease genes,” Dr. Bale says.
He has collaborated on many research projects, including with the Hospital General de Mexico on hereditary breast and ovarian cancer. Dr. Bale is a professor of genetics at Yale School of Medicine.
Titles
- Professor of Genetics
- Director, Fellowship in Laboratory Genetics and Genomics
- Director, DNA Diagnostic Lab
Education & Training
- Postdoctoral FellowNational Cancer Institute (1988)
- ResidentWestern Pennsylvania Hospital (1983)
- MDUniversity of Massachusetts, Medicine (1979)
- BSMassachusetts Institute of Technology, Life sciences (1975)
Languages Spoken
- English
Additional Information
Board Certifications
- AB of Medical Genetics, Clinical Genetics (1987)
- AB of Internal Medicine, Internal Medicine (1983)
Publications
- Deignan J, Aggarwal V, Bale A, Bellissimo D, Booker J, Cao Y, Crooks K, Deak K, Del Gaudio D, Funke B, Hoppman N, Horner V, Hufnagel R, Jackson-Cook C, Koduru P, Leung M, Li S, Liu P, Luo M, Mao R, Mason-Suares H, Mikhail F, Moore S, Naeem R, Pollard L, Repnikova E, Shao L, Shaw B, Shetty S, Smolarek T, Spiteri E, Van Ziffle J, Vance G, Vnencak-Jones C, Williams E. The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors. Genetics In Medicine Open 2024, 2: 101820. PMID: 39175871, PMCID: PMC11340206, DOI: 10.1016/j.gimo.2024.101820.
- Xicola R, Bistline E, Galloway M, Cox A, Abdelhamed Z, Ma D, Zhao C, Dykas D, Bale A, Zhang H. P352: The importance of genetics consultation prior to testing for a successful rapid genome sequencing program. Genetics In Medicine Open 2024, 2: 101246. DOI: 10.1016/j.gimo.2024.101246.
- Ma D, Peng G, Dykas D, Bale A, Zhang H. P662: Updates on phenotypic spectrum and genotype-phenotype correlation of WDFY3-related syndrome. Genetics In Medicine Open 2024, 2: 101567. DOI: 10.1016/j.gimo.2024.101567.
- Abdelhamed Z, Dykas D, DiAdamo A, Wen J, Zhang H, Spencer-Manzon M, Li P, Jiang Y, Bale A. P602: Genetic modifiers as a basis for phenotypic variability in mosaic trisomy 8. Genetics In Medicine Open 2024, 2: 101508. DOI: 10.1016/j.gimo.2024.101508.
- Kayser M, Jain P, Bale A, Carpenter T. A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia. JCEM Case Reports 2023, 1: luad082. PMID: 37908207, PMCID: PMC10586592, DOI: 10.1210/jcemcr/luad082.
- Zheng M, Hakim A, Konkwo C, Deaton A, Ward L, Genetics A, Silveira M, Assis D, Liapakis A, Jaffe A, Jiang Z, Curry M, Lai M, Cho M, Dykas D, Bale A, Mistry P, Vilarinho S. Advancing diagnosis and management of liver disease in adults through exome sequencing. EBioMedicine 2023, 95: 104747. PMID: 37566928, PMCID: PMC10433007, DOI: 10.1016/j.ebiom.2023.104747.
- Wiegand A, Kastury R, Neogi A, Mani A, Bale A, Cox A. FKBP14 kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report. Molecular Case Studies 2023, 9: a006281. PMID: 37433679, PMCID: PMC10393184, DOI: 10.1101/mcs.a006281.
- Chung D, Zheng M, Bale A, Vilarinho S. Hepatology Genome Rounds: An interdisciplinary approach to integrate genomic data into clinical practice. Journal Of Hepatology 2023, 79: 1065-1071. PMID: 37011712, PMCID: PMC10523901, DOI: 10.1016/j.jhep.2023.03.030.
- Balkaya S, Kastury R, Jiang Y, Zhang H, Bale A, Spencer M. INTERMITTENT MSUD CASE, IN AN UNEXPLAINED ENCEPHALOPATH IN AN ADULT AFTER CARDIAC SURGERY. Molecular Genetics And Metabolism 2023, 138: 107389. DOI: 10.1016/j.ymgme.2023.107389.
- Zhao C, Chai H, Zhang H, Jiang Y, Li P, Bale A. P641: Whole-exome sequencing on product of conception: A cohort study to evaluate clinical utility and genetic etiology for pregnancy loss. Genetics In Medicine Open 2023, 1: 100697. DOI: 10.1016/j.gimo.2023.100697.
- Ma D, Popa A, Dykas D, Ziganshin B, Zafar M, Elefteriades J, Zhang H, Bale A. P503: Historical prospective study of the link between JAK2-V617F and thoracic aortic aneurysm. Genetics In Medicine Open 2023, 1: 100550. DOI: 10.1016/j.gimo.2023.100550.
- Al‐Ali S, Jeffries L, Faustino EVS, Ji W, Mis E, Konstantino M, Zerillo C, Jiang Y, Spencer‐Manzon M, Bale A, Zhang H, McGlynn J, McGrath JM, Tremblay T, Brodsky NN, Lucas CL, Pierce R, Deniz E, Khokha MK, Lakhani SA. A retrospective cohort analysis of the Yale pediatric genomics discovery program. American Journal Of Medical Genetics Part A 2022, 188: 2869-2878. PMID: 35899841, PMCID: PMC9474639, DOI: 10.1002/ajmg.a.62918.
- GALUPPO B, MANNAM P, TRICO D, BALE A, CAPRIO S, SANTORO N. 978-P: Rare Variants in Melanocortin 4 Receptor Gene (MC4R) Are Associated with Increased Visceral Fat and Altered Glucose Metabolism Independent of the Effect of Obesity in Children. Diabetes 2022, 71 DOI: 10.2337/db22-978-p.
- Wen J, Chai H, Grommisch B, DiAdamo A, Dykas D, Ma D, Popa A, Zhao C, Spencer‐Manzon M, Jiang Y, McGrath J, Li P, Bale A, Zhang H. Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients. American Journal Of Medical Genetics Part A 2022, 188: 1728-1738. PMID: 35199448, DOI: 10.1002/ajmg.a.62693.
- Sun Q, Gehlhausen JR, Freudzon M, Kibbi N, Bale A, Choate K, Tomayko M, Odell I, Ramachandran S. A novel NFkB1 mutation linking pyoderma gangrenosum and common variable immunodeficiency. JAAD Case Reports 2021, 18: 61-63. PMID: 34825039, PMCID: PMC8605275, DOI: 10.1016/j.jdcr.2021.10.015.
- Werner KM, Cox AJ, Qian E, Jain P, Ji W, Tikhonova I, Castaldi C, Bilguvar K, Knight J, Ferdinandusse S, Fawaz R, Jiang Y, Gallagher PG, Bizzarro M, Gruen JR, Bale A, Zhang H. D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia. American Journal Of Medical Genetics Part A 2021, 188: 357-363. PMID: 34623748, PMCID: PMC8678290, DOI: 10.1002/ajmg.a.62520.
- Zhao C, Chai H, Zhou Q, Wen J, Reddy U, Kastury R, Jiang Y, Mak W, Bale A, Zhang H, Li P. Exome Sequencing Analysis on Products of Conception: A Cohort Study to Evaluate Clinical Utility and Genetic Etiology for Pregnancy Loss. Obstetrical & Gynecological Survey 2021, 76: 468-469. DOI: 10.1097/01.ogx.0000791680.43228.b1.
- Wen J, Grommisch B, DiAdamo A, Chai H, Ng SME, Hui P, Bale A, Mak W, Wang G, Li P. Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues. Molecular Cytogenetics 2021, 14: 21. PMID: 33810806, PMCID: PMC8019165, DOI: 10.1186/s13039-021-00542-5.
- Li Q, Gulati A, Lemaire M, Nottoli T, Bale A, Tufro A. Rho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosis. Kidney International 2021, 99: 1102-1117. PMID: 33412162, PMCID: PMC8076076, DOI: 10.1016/j.kint.2020.12.022.
- Mendoza H, Chen PH, Pine AB, Siddon AJ, Bale AE, Gowda L, Killie A, Richards J, Varin-Tremblay C, Kloss R, Podoltsev NA. A case of acute myeloid leukemia with unusual germline CEBPA mutation: lessons learned about mutation detection, location, and penetrance. Leukemia & Lymphoma 2020, 62: 1251-1254. PMID: 33345654, DOI: 10.1080/10428194.2020.1861276.
- Zhao C, Chai H, Zhou Q, Wen J, Reddy UM, Kastury R, Jiang Y, Mak W, Bale AE, Zhang H, Li P. Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss. Genetics In Medicine 2020, 23: 435-442. PMID: 33100332, DOI: 10.1038/s41436-020-01008-6.
- Majumdar SK, Jacob T, Bale A, Bailey A, Kwon J, Hughes T, Barbieri AL, Laskin W, Cohen P, Carling TJE. A Novel Variant in the Calcium‐Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low‐to‐Normal PTH. Case Reports In Endocrinology 2020, 2020: 8752610. PMID: 33062349, PMCID: PMC7555459, DOI: 10.1155/2020/8752610.
- Murray MF, Kenny EE, Ritchie MD, Rader DJ, Bale AE, Giovanni MA, Abul-Husn NS. COVID-19 outcomes and the human genome. Genetics In Medicine 2020, 22: 1175-1177. PMID: 32393819, PMCID: PMC8629441, DOI: 10.1038/s41436-020-0832-3.
- Chai H, DiAdamo A, Grommisch B, Xu F, Zhou Q, Wen J, Mahoney M, Bale A, McGrath J, Spencer-Manzon M, Li P, Zhang H. A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings. Frontiers In Genetics 2019, 10: 1162. PMID: 31850057, PMCID: PMC6902283, DOI: 10.3389/fgene.2019.01162.
- Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical ImplicationsVinholo T, Brownstein AJ, Ziganshin BA, Zafar MA, Kuivaniemi H, Body SC, Bale AE, Elefteriades JA. Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications. Aorta 2019, 07: 099-107. PMID: 31842235, PMCID: PMC6914358, DOI: 10.1055/s-0039-3400233.
- Hakim A, Zhang X, DeLisle A, Oral EA, Dykas D, Drzewiecki K, Assis DN, Silveira M, Batisti J, Jain D, Bale A, Mistry PK, Vilarinho S. Clinical utility of genomic analysis in adults with idiopathic liver disease. Journal Of Hepatology 2019, 70: 1214-1221. PMID: 31000363, PMCID: PMC6526061, DOI: 10.1016/j.jhep.2019.01.036.
- Madhavan P, Van Do TH, Bale A, Majumdar S. A Novel Mutation in Calcium-Sensing Receptor Presenting as Familial Hypocalciuric Hypercalcemia in a Young Man. AACE Clinical Case Reports 2019, 5: e226-e229. PMID: 31967040, PMCID: PMC6873832, DOI: 10.4158/accr-2018-0236.
- Phatak A, Athar M, Crowell JA, Leffel D, Herbert BS, Bale AE, Kopelovich L. Global gene expression of histologically normal primary skin cells from BCNS subjects reveals “single-hit” effects that are influenced by rapamycin. Oncotarget 2019, 10: 1360-1387. PMID: 30858923, PMCID: PMC6402716, DOI: 10.18632/oncotarget.26640.
- Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death. European Journal Of Medical Genetics 2018, 62: 103574. PMID: 30439532, DOI: 10.1016/j.ejmg.2018.11.008.
- Gulati A, Bale AE, Dykas DJ, Bia MJ, Danovitch GM, Moeckel GW, Somlo S, Dahl NK. TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD—A Novel Presentation. American Journal Of Kidney Diseases 2018, 72: 895-899. PMID: 29941221, DOI: 10.1053/j.ajkd.2018.05.006.
- Couto PP, Bastos-Rodrigues L, Schayek H, Melo FM, Lisboa RGC, Miranda DM, Vilhena A, Bale AE, Friedman E, De Marco L. Spectrum of germline mutations in smokers and non-smokers in Brazilian non-small-cell lung cancer (NSCLC) patients. Carcinogenesis 2017, 38: 1112-1118. PMID: 28968711, DOI: 10.1093/carcin/bgx089.
- Lee EJ, Dykas DJ, Leavitt AD, Camire RM, Ebberink E, García de Frutos P, Gnanasambandan K, Gu SX, Huntington JA, Lentz SR, Mertens K, Parish CR, Rezaie AR, Sayeski PP, Cromwell C, Bar N, Halene S, Neparidze N, Parker TL, Burns AJ, Dumont A, Yao X, Chaar CIO, Connors JM, Bale AE, Lee AI. Whole-exome sequencing in evaluation of patients with venous thromboembolism. Blood Advances 2017, 1: 1224-1237. PMID: 29296762, PMCID: PMC5728544, DOI: 10.1182/bloodadvances.2017005249.
- Cartmel B, Bale AE, Mayne ST, Gelernter JE, DeWan AT, Spain P, Leffell DJ, Pagoto S, Ferrucci LM. Predictors of tanning dependence in white non‐Hispanic females and males. Journal Of The European Academy Of Dermatology And Venereology 2017, 31: 1223-1228. PMID: 28129487, PMCID: PMC5522341, DOI: 10.1111/jdv.14138.
- Seidelmann SB, Smith E, Subrahmanyan L, Dykas D, Abou Ziki MD, Azari B, Hannah-Shmouni F, Jiang Y, Akar JG, Marieb M, Jacoby D, Bale AE, Lifton RP, Mani A. Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults. Circulation Genomic And Precision Medicine 2017, 10: e001573. PMID: 28087566, PMCID: PMC5245580, DOI: 10.1161/circgenetics.116.001573.
- ZIAI J, MATLOFF E, CHOI J, KOMBO N, MATERIN M, BALE AE. Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations. Genetics Research 2016, 98: e5. PMID: 26947005, PMCID: PMC6865171, DOI: 10.1017/s0016672316000021.
- Cartmel B, Mayne S, Bale A, Gelernter J, DeWan A, Leffell D, Pagoto S, Spain P, Ferrucci L. Predictors of tanning dependence in white non-hispanic females and males. Dermatology Online Journal 2016, 22 DOI: 10.5070/d3229032556.
- Zhang Y, Cartmel B, Choy C, Molinaro A, Leffell D, Bale A, Mayne S, Ferucci L. Body mass index, height and early-onset basal cell carcinoma in a case-control study. Dermatology Online Journal 2016, 22 DOI: 10.5070/d3229032524.
- Cartmel B, Dewan A, Ferrucci LM, Gelernter J, Stapleton J, Leffell DJ, Mayne ST, Bale AE. Novel gene identified in an exome‐wide association study of tanning dependence. Experimental Dermatology 2014, 23: 757-759. PMID: 25041255, PMCID: PMC4204712, DOI: 10.1111/exd.12503.
- Vilarinho S, Choi M, Jain D, Malhotra A, Kulkarni S, Pashankar D, Phatak U, Patel M, Bale A, Mane S, Lifton RP, Mistry PK. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. Journal Of Hepatology 2014, 61: 1056-1063. PMID: 25016221, PMCID: PMC4203706, DOI: 10.1016/j.jhep.2014.06.038.
- Troche JR, Ferrucci LM, Cartmel B, Leffell DJ, Bale AE, Mayne ST. Systemic glucocorticoid use and early-onset basal cell carcinoma. Annals Of Epidemiology 2014, 24: 625-627. PMID: 24958637, PMCID: PMC4119504, DOI: 10.1016/j.annepidem.2014.05.009.
- CARNEIRO JG, COUTO PG, BASTOS-RODRIGUES L, BICALHO MA, VIDIGAL PV, VILHENA A, AMARAL NF, BALE AE, FRIEDMAN E, DE MARCO L. Spectrum of somatic EGFR, KRAS, BRAF, PTEN mutations and TTF-1 expression in Brazilian lung cancer patients. Genetics Research 2014, 96: e002. PMID: 24594201, PMCID: PMC7045132, DOI: 10.1017/s0016672314000032.
- Giannini C, Man C, Groop L, Cobelli C, Zhao H, Shaw MM, Duran E, Pierpont B, Bale AE, Caprio S, Santoro N. Co-occurrence of Risk Alleles in or Near Genes Modulating Insulin Secretion Predisposes Obese Youth to Prediabetes. Diabetes Care 2014, 37: 475-482. PMID: 24062323, PMCID: PMC3898754, DOI: 10.2337/dc13-1458.
- Cartmel B, Ferrucci LM, Spain P, Bale AE, Pagoto SL, Leffell DJ, Gelernter J, Mayne ST. Indoor Tanning and Tanning Dependence in Young People After a Diagnosis of Basal Cell Carcinoma. JAMA Dermatology 2013, 149: 1110-1111. PMID: 23824273, PMCID: PMC3782995, DOI: 10.1001/jamadermatol.2013.5104.
- Hofstatter EW, Bale AE. The Promise and Pitfalls of Genomics-Driven Cancer Medicine. The AMA Journal Of Ethic 2013, 15: 681. PMID: 23937784, DOI: 10.1001/virtualmentor.2013.15.8.stas1-1308.
- Shifrin A, Bale A, Dykas D, Fay A, Belitsis K, Fomin S, Lann D, Villanueva R, Zheng M, Govil S, Erler B, Matulewicz T, Topilow A, Krasna M, Vernick J. MEN1 gene mutations with different phenotypic presentations in two families: Is it a time to grade MEN1 mutations as high-risk and low-risk? Journal Of Clinical Oncology 2012, 30: 1540-1540. DOI: 10.1200/jco.2012.30.15_suppl.1540.
- Dykas D, Bale A. PCR Based Diagnosis of Fragile X Syndrome. 2012, 363-372. DOI: 10.1007/978-1-4614-2170-2_24.
- Lostritto K, Ferrucci LM, Cartmel B, Leffell DJ, Molinaro AM, Bale AE, Mayne ST. Lifetime history of indoor tanning in young people: a retrospective assessment of initiation, persistence, and correlates. BMC Public Health 2012, 12: 118. PMID: 22324969, PMCID: PMC3340300, DOI: 10.1186/1471-2458-12-118.
- Heffelfinger C, Ouyang Z, Engberg A, Leffell DJ, Hanlon AM, Gordon PB, Zheng W, Zhao H, Snyder MP, Bale AE. Correlation of Global MicroRNA Expression With Basal Cell Carcinoma Subtype. G3: Genes, Genomes, Genetics 2012, 2: 279-286. PMID: 22384406, PMCID: PMC3284335, DOI: 10.1534/g3.111.001115.
- Santoro N, Zhang CK, Zhao H, Pakstis AJ, Kim G, Kursawe R, Dykas DJ, Bale AE, Giannini C, Pierpont B, Shaw MM, Groop L, Caprio S. Variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents. Hepatology 2011, 55: 781-789. PMID: 22105854, PMCID: PMC3288435, DOI: 10.1002/hep.24806.
- Ferrucci LM, Cartmel B, Molinaro AM, Leffell DJ, Bale AE, Mayne ST. Indoor tanning and risk of early-onset basal cell carcinoma. Journal Of The American Academy Of Dermatology 2011, 67: 552-562. PMID: 22153793, PMCID: PMC3307842, DOI: 10.1016/j.jaad.2011.11.940.
- Ferrucci LM, Cartmel B, Molinaro AM, Gordon PB, Leffell DJ, Bale AE, Mayne ST. Host Phenotype Characteristics and MC1R in Relation to Early-Onset Basal Cell Carcinoma. Journal Of Investigative Dermatology 2011, 132: 1272-1279. PMID: 22158557, PMCID: PMC3305835, DOI: 10.1038/jid.2011.402.
- Wang NJ, Sanborn Z, Arnett KL, Bayston LJ, Liao W, Proby CM, Leigh IM, Collisson EA, Gordon PB, Jakkula L, Pennypacker S, Zou Y, Sharma M, North JP, Vemula SS, Mauro TM, Neuhaus IM, LeBoit PE, Hur JS, Park K, Huh N, Kwok PY, Arron ST, Massion PP, Bale AE, Haussler D, Cleaver JE, Gray JW, Spellman PT, South AP, Aster JC, Blacklow SC, Cho RJ. Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma. Proceedings Of The National Academy Of Sciences Of The United States Of America 2011, 108: 17761-17766. PMID: 22006338, PMCID: PMC3203814, DOI: 10.1073/pnas.1114669108.
- Williams SA, Wilson JB, Clark AP, Mitson-Salazar A, Tomashevski A, Ananth S, Glazer PM, Semmes OJ, Bale AE, Jones NJ, Kupfer GM. Functional and physical interaction between the mismatch repair and FA-BRCA pathways. Human Molecular Genetics 2011, 20: 4395-4410. PMID: 21865299, PMCID: PMC3196888, DOI: 10.1093/hmg/ddr366.
- Bonadies DC, Bale AE. Hereditary Melanoma. Current Problems In Cancer 2011, 35: 162-172. PMID: 21911180, DOI: 10.1016/j.currproblcancer.2011.07.001.
- Jensen AL, Florell SR, Vanderhooft SL, Bale AE. Basal Cell Carcinoma Arising in a Nevus Sebaceus in a Child with Facial Trichoepitheliomas. Pediatric Dermatology 2011, 28: 138-141. PMID: 20738793, DOI: 10.1111/j.1525-1470.2010.01227.x.
- Williams S, Wilson J, Clark A, Mitson-Salazar A, Bale A, Jones N, Kupfer G. Functional and Physical Interaction Between the Mismatch Repair and the FA-BRCA Pathways. Blood 2010, 116: 3370. DOI: 10.1182/blood.v116.21.3370.3370.
- Santoro N, Kursawe R, D'Adamo E, Dykas DJ, Zhang CK, Bale AE, Calí AM, Narayan D, Shaw MM, Pierpont B, Savoye M, Lartaud D, Eldrich S, Cushman SW, Zhao H, Shulman GI, Caprio S. A common variant in the patatin‐like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents. Hepatology 2010, 52: 1281-1290. PMID: 20803499, PMCID: PMC3221304, DOI: 10.1002/hep.23832.
- Kottemann MC, Bale AE. Characterization of DNA damage-dependent cell cycle checkpoints in a menin-deficient model. DNA Repair 2009, 8: 944-952. PMID: 19608464, PMCID: PMC2745199, DOI: 10.1016/j.dnarep.2009.06.001.
- Marek LR, Kottemann MC, Glazer PM, Bale AE. MEN1 and FANCD2 mediate distinct mechanisms of DNA crosslink repair. DNA Repair 2008, 7: 476-486. PMID: 18258493, PMCID: PMC2277339, DOI: 10.1016/j.dnarep.2007.12.009.
- Pearce CL, Wu AH, Gayther SA, Bale AE, Beck P, Beesley J, Chanock S, Cramer D, DiCioccio R, Edwards R, Fredericksen Z, Garcia-Closas M, Goode E, Green A, Hartmann L, Hogdall E, Kjær S, Lissowska J, McGuire V, Modugno F, Moysich K, Ness R, Ramus S, Risch H, Sellers T, Song H, Stram D, Terry K, Webb P, Whiteman D, Whittemore A, Zheng W, Pharoah P, Chenevix-Trench G, Pike M, Schildkraut J, Berchuck A, on behalf of the Ovarian Cancer Association Consortium (OCAC). Progesterone receptor variation and risk of ovarian cancer is limited to the invasive endometrioid subtype: results from the ovarian cancer association consortium pooled analysis. British Journal Of Cancer 2008, 98: 282-288. PMID: 18219286, PMCID: PMC2361465, DOI: 10.1038/sj.bjc.6604170.
- Busygina V, Bale AE. Multiple endocrine neoplasia type 1 (MEN1) as a cancer predisposition syndrome: clues into the mechanisms of MEN1-related carcinogenesis. The Yale Journal Of Biology And Medicine 2006, 79: 105-14. PMID: 17940620, PMCID: PMC1994794.
- Brailey L, Davis T, Kolker S, Murry T, Thomas D, Bale A, Ruhoy S. Congenital linear unilateral basal cell nevus: a case report with patched gene molecular studies. Journal Of Cutaneous Pathology 2006, 34: 65-70. PMID: 17214858, DOI: 10.1111/j.1600-0560.2006.00580.x.
- Klein RD, Thorland EC, Gonzales PR, Beck PA, Dykas DJ, McGrath JM, Bale AE. A Multiplex Assay for the Detection and Mapping of Complex Glycerol Kinase Deficiency. Clinical Chemistry 2006, 52: 1864-1870. PMID: 16887896, DOI: 10.1373/clinchem.2006.072397.
- Cajaiba MM, Bale AE, Alvarez-Franco M, McNamara J, Reyes-Múgica M. Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome. Nature Reviews Clinical Oncology 2006, 3: 575-580. PMID: 17019435, DOI: 10.1038/ncponc0608.
- Pejovic T, Yates JE, Liu HY, Hays LE, Akkari Y, Torimaru Y, Keeble W, Rathbun RK, Rodgers WH, Bale AE, Ameziane N, Zwaan CM, Errami A, Thuillier P, Cappuccini F, Olson SB, Cain JM, Bagby GC. Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer. Cancer Research 2006, 66: 9017-9025. PMID: 16982743, DOI: 10.1158/0008-5472.can-06-0222.
- Risch HA, Bale AE, Beck PA, Zheng W. PGR +331 A/G and Increased Risk of Epithelial Ovarian Cancer. Cancer Epidemiology Biomarkers & Prevention 2006, 15: 1738-1741. PMID: 16985038, DOI: 10.1158/1055-9965.epi-06-0272.
- Busygina V, Kottemann MC, Scott KL, Plon SE, Bale AE. Multiple Endocrine Neoplasia Type 1 Interacts with Forkhead Transcription Factor CHES1 in DNA Damage Response. Cancer Research 2006, 66: 8397-8403. PMID: 16951149, DOI: 10.1158/0008-5472.can-06-0061.
- Marek LR, Bale AE. Drosophila homologs of FANCD2 and FANCL function in DNA repair. DNA Repair 2006, 5: 1317-1326. PMID: 16860002, DOI: 10.1016/j.dnarep.2006.05.044.
- Yamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene. Human Mutation 2006, 27: 626-632. PMID: 16786505, DOI: 10.1002/humu.20339.
- Klein RD, Dykas DJ, Bale AE. Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genetics In Medicine 2005, 7: 611-619. PMID: 16301862, DOI: 10.1097/01.gim.0000182879.57182.b4.
- Cooper AF, Yu KP, Brueckner M, Brailey LL, Johnson L, McGrath JM, Bale AE. Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fused. Development 2005, 132: 4407-4417. PMID: 16155214, DOI: 10.1242/dev.02021.
- Klein RD, Salih S, Bessoni J, Bale AE. Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genetics In Medicine 2005, 7: 131-138. PMID: 15714081, DOI: 10.1097/01.gim.0000153663.62300.f8.
- Busygina V, Suphapeetiporn K, Marek LR, Stowers RS, Xu T, Bale AE. Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1. Human Molecular Genetics 2004, 13: 2399-2408. PMID: 15333582, DOI: 10.1093/hmg/ddh271.
- Choi DH, Lee MH, Bale AE, Carter D, Haffty BG. Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer Patients. Journal Of Clinical Oncology 2004, 22: 1638-1645. PMID: 15117986, DOI: 10.1200/jco.2004.04.179.
- Bale A. The hedgehog pathway and developmental disorders. 2003, 258-272. DOI: 10.4324/9780203450420-14.
- Kim S, Rimm D, Carter D, Khan A, Parisot N, Franco MA, Bale A, Haffty BG. BRCA Status, Molecular Markers, and Clinical Variables in Early, Conservatively Managed Breast Cancer. The Breast Journal 2003, 9: 167-174. PMID: 12752624, DOI: 10.1046/j.1524-4741.2003.09307.x.
- Barreto D, Bale A, De Marco L, Gomez R. Immunolocalization of PTCH Protein in Odontogenic Cysts and Tumors. Journal Of Dental Research 2002, 81: 757-760. PMID: 12407090, DOI: 10.1177/0810757.
- Barreto D, Bale A, De Marco L, Gomez R. Immunolocalization of PTCH Protein in Odontogenic Cysts and Tumors. Journal Of Dental Research 2002, 81: 757-760. DOI: 10.1177/154405910208101107.
- Suphapeetiporn K, Greally JM, Walpita D, Ashley T, Bale AE. MEN1 tumor‐suppressor protein localizes to telomeres during meiosis. Genes Chromosomes And Cancer 2002, 35: 81-85. PMID: 12203793, DOI: 10.1002/gcc.10113.
- Ernest S, Christensen B, Gilfix BM, Mamer OA, Hosack A, Rodier M, Colmenares C, McGrath J, Bale A, Balling R, Sankoff D, Rosenblatt DS, Nadeau JH. Genetic and molecular control of folate-homocysteine metabolism in mutant mice. Mammalian Genome : Official Journal Of The International Mammalian Genome Society 2002, 13: 259-67. PMID: 12016514, DOI: 10.1007/s00335-001-3054-2.
- Bale AE. HEDGEHOG SIGNALING AND HUMAN DISEASE. Annual Review Of Genomics And Human Genetics 2002, 3: 47-65. PMID: 12142354, DOI: 10.1146/annurev.genom.3.022502.103031.
- Haffty BG, Harrold E, Khan AJ, Pathare P, Smith TE, Turner BC, Glazer PM, Ward B, Carter D, Matloff E, Bale AE, Alvarez-Franco M. Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status. The Lancet 2002, 359: 1471-1477. PMID: 11988246, DOI: 10.1016/s0140-6736(02)08434-9.
- Llort G, Muñoz CY, Tuser MP, Guillermo IB, Lluch JR, Bale AE, Franco MA. Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain. Human Mutation 2002, 19: 307-307. PMID: 11857748, DOI: 10.1002/humu.9014.
- Bale A. Patched. 2002 DOI: 10.1002/0471203076.emm1095.
- Kim S, Rimm D, Carter D, Khan A, Parisot N, Franco M, Bale A, Haffty B. Correlations between BRCA status, molecular markers and clinical variables in early onset conservatively managed breast cancer. International Journal Of Radiation Oncology • Biology • Physics 2001, 51: 193. DOI: 10.1016/s0360-3016(01)02175-7.
- Bale A, Yu K. The hedgehog pathway and basal cell carcinomas. Human Molecular Genetics 2001, 10: 757-762. PMID: 11257109, DOI: 10.1093/hmg/10.7.757.
- Petty E, Glynn M, Bale A. Direct Molecular Diagnosis of Multiple Endocrine Neoplasia Type 1. Methods In Molecular Medicine 2001, 49: 227-242. PMID: 21370144, DOI: 10.1385/1-59259-081-0:227.
- Bale A. Sheep, lilies and human genetics. Nature 2000, 406: 944-945. PMID: 10984033, DOI: 10.1038/35023197.
- Dong J, Gailani M, Pomeroy S, Reardon D, Bale A. Identification of PATCHED mutations in medulloblastomas by direct sequencing. Human Mutation 2000, 16: 89-90. PMID: 10874314, DOI: 10.1002/1098-1004(200007)16:1<89::aid-humu18>3.0.co;2-7.
- Barreto D, Gomez R, Bale A, Boson W, De Marco L. PTCH Gene Mutations in Odontogenic Keratocysts. Journal Of Dental Research 2000, 79: 1418-1422. PMID: 10890722, DOI: 10.1177/00220345000790061101.
- Haffy B, Harrold E, Khan A, Pathare P, Ward B, Matloff E, Alvarez-Franco M, Bale A. Conservatively managed breast cancer in young women: outcome as a function of BRCA 12 status. International Journal Of Radiation Oncology • Biology • Physics 2000, 48: 142. DOI: 10.1016/s0360-3016(00)80078-4.
- Wicking C, Smyth I, Bale A. The hedgehog signalling pathway in tumorigenesis and development. Oncogene 1999, 18: 7844-7851. PMID: 10630637, DOI: 10.1038/sj.onc.1203282.
- Bale A. Prenatal diagnosis of ornithine transcarbamylase deficiency. Prenatal Diagnosis 1999, 19: 1052-1054. PMID: 10589058, DOI: 10.1002/(sici)1097-0223(199911)19:11<1052::aid-pd693>3.0.co;2-2.
- Raymond K, Bale A, Barnes A, Rinaldo P. Medium-chain acyl-CoA dehydrogenase deficiency: Sudden and unexpected death of a 45 year old woman. Genetics In Medicine 1999, 1: 293-294. PMID: 11258631, DOI: 10.1097/00125817-199909000-00008.
- Heptulla R, Schwartz R, Bale A, Flynn S, Genel M. Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children. The Journal Of Pediatrics 1999, 135: 327-331. PMID: 10484798, DOI: 10.1016/s0022-3476(99)70129-0.
- Petroianu A, Boson W, Bale A, Friedman E, De Marco L. Mutational Analyses of Candidate Genes in Human Squamous Cell Carcinomas. The Laryngoscope 1999, 109: 661-663. PMID: 10201760, DOI: 10.1097/00005537-199904000-00027.
- Topaloglu A, Sansaricq C, Fox J, Bale A, Tuchman M, Desnick R. Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G. Journal Of Inherited Metabolic Disease 1999, 22: 82-83. PMID: 10070622, DOI: 10.1023/a:1005411601985.
- Gailani M, Bale A. Acquired and inherited basal cell carcinomas and the patched gene. Advances In Dermatology 1999, 14: 261-83; discussion 284. PMID: 10643501.
- Wicking C, Bale A. Molecular basis of the nevoid basal cell carcinoma syndrome. Current Opinion In Pediatrics 1997, 9: 630-635. PMID: 9425597, DOI: 10.1097/00008480-199712000-00013.
- Gailani M, Bale A. Developmental Genes and Cancer: Role of Patched in Basal Cell Carcinoma of the Skin. Journal Of The National Cancer Institute 1997, 89: 1103-1109. PMID: 9262247, DOI: 10.1093/jnci/89.15.1103.
- Walter A, Pivnick E, Bale A, Kun L. Complications of the Nevoid Basal Cell Carcinoma Syndrome. Journal Of Pediatric Hematology/Oncology 1997, 19: 258-262. PMID: 9201152, DOI: 10.1097/00043426-199705000-00016.
- Kimonis V, Goldstein A, Pastakia B, Yang M, Kase R, DiGiovanna J, Bale A, Bale S. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. American Journal Of Medical Genetics 1997, 69: 299-308. PMID: 9096761, DOI: 10.1002/(sici)1096-8628(19970331)69:3<299::aid-ajmg16>3.0.co;2-m.
- Chidambaram A, Gailani M, Gerrard B, Stewart C, Goldstein A, Chumakov I, Bale A, Dean M. Characterization of a YAC contig containing the NBCCS locus and a novel Kruppel‐type zinc finger sequence on chromosome segment 9q22.3. Genes Chromosomes And Cancer 1997, 18: 212-218. PMID: 9071574, DOI: 10.1002/(sici)1098-2264(199703)18:3<212::aid-gcc7>3.0.co;2-4.
- Levanat S, Chidambaram A, Wicking C, Bray-Ward P, Pressman C, Toftgard R, Gailani M, Myers J, Wainwright B, Dean M, Bale A. Pulsed-field gel electrophoresis and FISH mapping of chromosome 9q22: placement of a novel zinc finger gene within the NBCCS and ESS1 region. Cytogenetic And Genome Research 1997, 76: 208-213. PMID: 9186526, DOI: 10.1159/000134551.
- Bale A. The Nevoid Basal Cell Carcinoma Syndrome: Genetics and Mechanism of Carcinogenesis. Cancer Investigation 1997, 15: 180-186. PMID: 9095215, DOI: 10.3109/07357909709115772.
- Chidambaram A, Goldstein AM, Gailani MR, Gerrard B, Bale SJ, DiGiovanna JJ, Bale AE, Dean M. Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. Cancer Research 1996, 56: 4599-601. PMID: 8840969.
- Gailani M, Ståhle-Bäckdahl M, Leffell D, Glyn M, Zaphiropoulos P, Undén A, Dean M, Brash D, Bale A, Toftgård R. The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. Nature Genetics 1996, 14: 78-81. PMID: 8782823, DOI: 10.1038/ng0996-78.
- Shimkets R, Gailani M, Siu V, Yang-Feng T, Pressman C, Levanat S, Goldstein A, Dean M, Bale A. Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients. American Journal Of Human Genetics 1996, 59: 417-22. PMID: 8755929, PMCID: PMC1914731.
- Baskaran N, Kandpal R, Bhargava A, Glynn M, Bale A, Weissman S. Uniform amplification of a mixture of deoxyribonucleic acids with varying GC content. Genome Research 1996, 6: 633-638. PMID: 8796351, DOI: 10.1101/gr.6.7.633.
- Hahn H, Wicking C, Zaphiropoulos P, Gailani M, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden A, Gillies S, Negus K, Smyth I, Pressman C, Leffell D, Gerrard B, Goldstein A, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale A. Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome. Cell 1996, 85: 841-851. PMID: 8681379, DOI: 10.1016/s0092-8674(00)81268-4.
- Hahn H, Christiansen J, Wicking C, Zaphiropoulos P, Chidambaram A, Gerrard B, Vorechovsky I, Bale A, Toftgard R, Dean M, Wainwright B. A Mammalian patched Homolog Is Expressed in Target Tissues of sonic hedgehog and Maps to a Region Associated with Developmental Abnormalities (∗). Journal Of Biological Chemistry 1996, 271: 12125-12128. PMID: 8647801, DOI: 10.1074/jbc.271.21.12125.
- Kimonis V, Goldstein A, Pastakia B, Yang M, Kase R, DiGiovanna J, Bale A, Bale S. CLINICAL FEATURES IN CHILDREN WITH NEVOID BASAL CELL CARCINOMA SYNDROME.• 863. Pediatric Research 1996, 39: 146-146. DOI: 10.1203/00006450-199604001-00885.
- Gailani M, Leffell D, Ziegler A, Gross E, Brash D, Bale A. Relationship Between Sunlight Exposure and a Key Genetic Alteration in Basal Cell Carcinoma. Journal Of The National Cancer Institute 1996, 88: 349-354. PMID: 8609643, DOI: 10.1093/jnci/88.6.349.
- PERICAK‐VANCE M, BALE A, HAINES J, KWIATKOWSKI D, PILZ A, SLAUGENHAUPT S, WHITE J, EDWARDS J, MARCHUK D, OLOPADE O, ATTWOOD J, POVEY S. REPORT on the Fourth International Workshop on Chromosome 9: held at Williamsburg, Virginia, USA, April 23–25, 1995. Annals Of Human Genetics 1995, 59: 347-365. PMID: 8579331, DOI: 10.1111/j.1469-1809.1995.tb00756.x.
- Johnson D, Levanat S, Bale A. Direct molecular analysis of archival tumor tissue for loss of heterozygosity. BioTechniques 1995, 19: 190-2. PMID: 8527133.
- Bale A, Gailani M, Leffell D. The Gorlin syndrome gene: a tumor suppressor active in basal cell carcinogenesis and embryonic development. Proceedings Of The Association Of American Physicians 1995, 107: 253-7. PMID: 8624861.
- Litt M, Kramer P, Kort E, Fain P, Cox S, Root D, White R, Weissenbach J, Donis-Keller H, Gatti R, Weber J, Nakamura Y, Julier C, Hayashi K, Spurr N, Dean M, Mandel J, Kidd K, Kruse T, Retief A, Bale A, Meo T, Vergnaud G, Warren S, Willard H. The CEPH Consortium Linkage Map of Human Chromosome 11. Genomics 1995, 27: 101-112. PMID: 7665156, DOI: 10.1006/geno.1995.1011.
- Cox D, Billingsley G, Bale A, Donis-Keller H, Edwards J, Litt M, Mcbride W, Persichetti F, Spurr N, Weber J, Weissenbach J, White R. CEPH Consortium Map of Chromosome 14. Cytogenetic And Genome Research 1995, 69: 175-178. PMID: 7698005, DOI: 10.1159/000133955.
- Bale A, Gailani M, Leffell D. Nevoid basal cell carcinoma syndrome. Journal Of Investigative Dermatology 1994, 103: 126s-130s. PMID: 7963674, DOI: 10.1111/1523-1747.ep12399438.
- Bale A, Gailani M, Leffell D. Nevoid Basal Cell Carcinoma Syndrome. Journal Of Investigative Dermatology 1994, 103: s126-s130. DOI: 10.1038/jid.1994.23.
- Friedman E, Bale A, Carson E, Boson W, Nordenskjöld M, Ritzén M, Ferreira P, Jammal A, De Marco L. Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal. Proceedings Of The National Academy Of Sciences Of The United States Of America 1994, 91: 8457-8461. PMID: 8078903, PMCID: PMC44625, DOI: 10.1073/pnas.91.18.8457.
- Compton J, Kearns K, Bale S, Goldstein A, Turner M, Bale A, McBride O. Fine Mapping of the Locus for Nevoid Basal Cell Carcinoma Syndrome on Chromosome 9q. Journal Of Investigative Dermatology 1994, 103: 178-181. PMID: 8040607, DOI: 10.1111/1523-1747.ep12392682.
- Petty E, Green J, Marx S, Taggart R, Farid N, Bale A. Mapping the gene for hereditary hyperparathyroidism and prolactinoma (MEN1Burin) to chromosome 11q: evidence for a founder effect in patients from Newfoundland. American Journal Of Human Genetics 1994, 54: 1060-6. PMID: 7911003, PMCID: PMC1918205.
- Goldstein A, Stewart C, Bale A, Bale S, Dean M. Localization of the gene for the nevoid basal cell carcinoma syndrome. American Journal Of Human Genetics 1994, 54: 765-73. PMID: 7909984, PMCID: PMC1918262.
- Goldstein A, Pastakia B, Digiovanna J, Poliak S, Santucci S, Kase R, Bale A, Bale S. Clinical findings in two African‐American families with the nevoid basal cell carcinoma syndrome (NBCC). American Journal Of Medical Genetics 1994, 50: 272-281. PMID: 8042672, DOI: 10.1002/ajmg.1320500311.
- Bale A. Molecular Mechanisms of Neoplasia in Multiple Endocrine Neoplasia Type 1-Related and Sporadic Tumors of the Pancreatic Islet Cells. Endocrinology And Metabolism Clinics Of North America 1994, 23: 109-115. PMID: 7913019, DOI: 10.1016/s0889-8529(18)30119-1.
- Petty E, Gibson L, Fountain J, Bolognia J, Yang-Feng T, Housman D, Bale A. Molecular definition of a chromosome 9p21 germ-line deletion in a woman with multiple melanomas and a plexiform neurofibroma: implications for 9p tumor-suppressor gene(s). American Journal Of Human Genetics 1993, 53: 96-104. PMID: 8317504, PMCID: PMC1682234.
- Petty E, Arnold A, Marx S, Bale A. A Pulsed-Field Gel Electrophoresis (PFGE) Map of Twelve Loci on Chromosome 11q11-q13. Genomics 1993, 15: 423-425. PMID: 8449512, DOI: 10.1006/geno.1993.1080.
- Kwiatkowski D, Armour J, Bale A, Fountain J, Goudie D, Haines J, Knowles M, Pilz A, Slaugenhaupt S, Povey S. Report of the Second International Workshop on Human Chromosome 9 Mapping 1993. Cytogenetic And Genome Research 1993, 64: 93-121. PMID: 8334899, DOI: 10.1159/000133566.
- Falchetti A, Bale A, Amorosi A, Bordi C, Cicchi P, Bandini S, Marx S, Brandi M. Progression of uremic hyperparathyroidism involves allelic loss on chromosome 11. The Journal Of Clinical Endocrinology & Metabolism 1993, 76: 139-144. PMID: 8421078, DOI: 10.1210/jcem.76.1.8421078.
- Petty E, Bolognia J, Bale A, Yang‐Feng T. Cutaneous malignant melanoma and atypical moles associated with a constitutional rearrangement of chromosomes 5 and 9. American Journal Of Medical Genetics 1993, 45: 77-80. PMID: 8418665, DOI: 10.1002/ajmg.1320450119.
- Friedman E, De Marco L, Gejman P, Norton J, Bale A, Aurbach G, Spiegel A, Marx S. Allelic loss from chromosome 11 in parathyroid tumors. Cancer Research 1992, 52: 6804-9. PMID: 1360870.
- Petty E, Gold E, Bale A. DNA Diagnosis with Mutation-Specific Artificial Methylation Sites: Application to Rapid Screening of Δ F508. Clinical Chemistry 1992, 38: 2422-2425. PMID: 1458578, DOI: 10.1093/clinchem/38.12.2422.
- Spurr N, Cox S, Bryant S, Attwood J, Robson E, Shields D, Steinbrueck T, Jenkins T, Murray J, Kidd K, Summar M, Tsipouras P, Retief A, Kruse T, Bale A, Vergnaud G, Weber J, McBride O, Donis-Keller H, White R. The CEPH consortium linkage map of human chromosome 2. Genomics 1992, 14: 1055-1063. PMID: 1478647, DOI: 10.1016/s0888-7543(05)80129-6.
- Cannon-Albright L, Goldgar D, Meyer L, Lewis C, Anderson D, Fountain J, Hegi M, Wiseman R, Petty E, Bale A, Olopade O, Diaz M, Kwiatkowski D, Piepkorn M, Zone J, Skolnick M. Assignment of a Locus for Familial Melanoma, MLM, to Chromosome 9p13-p22. Science 1992, 258: 1148-1152. PMID: 1439824, DOI: 10.1126/science.1439824.
- POVEY S, SMITH M, HAINES J, KWIATKOWSKI D, FOUNTAIN J, BALE A, ABBOTT C, JACKSON I, LAWRIE M, HULTÉN M. REPORT on the First International Workshop on Chromosome 9 held at Girton College Cambridge, UK, 22–24 March, 1992. Annals Of Human Genetics 1992, 56: 167-182. PMID: 1449236, DOI: 10.1111/j.1469-1809.1992.tb01145.x.
- Brandi M, Falchetti A, Amorosi A, Bordli C, Cicchi P, Bandini S, Eubanks∘ J, Evans∘ G, Marx∘∘ S, Bale A. Use of a highly polymorphic locus on human chromosome Hq13 discloses allelic loss in parathyroid tissues from uremic patients. Bone And Mineral 1992, 17: 69. DOI: 10.1016/0169-6009(92)91643-w.
- Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9Gailani M, Bale S, Leffell D, DiGiovanna J, Peck G, Poliak S, Drum M, Pastakia B, McBride O, Kase R, Greene M, Mulvihill J, Bale A. Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. Cell 1992, 69: 111-117. PMID: 1348213, DOI: 10.1016/0092-8674(92)90122-s.
- Mitchell A, Bale A, Lee B, Hatfield D, Harley H, Rundle S, Fan Y, Fukushima Y, Shows T, McBride O. Regional localization of the selenocysteine tRNA gene (TRSP) on human chromosome 19. Cytogenetic And Genome Research 1992, 61: 117-120. PMID: 1395717, DOI: 10.1159/000133385.
- Arnold A, Motokura T, Bloom T, Rosenberg C, Bale A, Kronenberg H, Ruderman J, Brown M, Kim H. PRAD1 (cyclin D1): a parathyroid neoplasia gene on 11q13. Henry Ford Hospital Medical Journal 1992, 40: 177-80. PMID: 1483873.
- Mitchell A, Bale A, Wang-ge M, Yi H, White R, Pirtle R, McBride O. Localization of a DNA segment encompassing four tRNA genes to human chromosome 14q11 and its use as an anchor locus for linkage analysis. Genomics 1991, 11: 1063-1070. PMID: 1686015, DOI: 10.1016/0888-7543(91)90033-b.
- Rosenberg C, Wong E, Petty E, Bale A, Tsujimoto Y, Harris N, Arnold A. PRAD1, a candidate BCL1 oncogene: mapping and expression in centrocytic lymphoma. Proceedings Of The National Academy Of Sciences Of The United States Of America 1991, 88: 9638-9642. PMID: 1682919, PMCID: PMC52773, DOI: 10.1073/pnas.88.21.9638.
- Bowcock A, Farrer L, Hebert J, Bale A, Cavalli-Sforza L. A contiguous linkage map of chromosome 13q with 39 distinct loci separated on average by 5.1 centimorgans. Genomics 1991, 11: 517-529. PMID: 1685473, DOI: 10.1016/0888-7543(91)90058-m.
- Bale S, Amos C, Parry D, Bale A. Relationship between head circumference and height in normal adults and in the nevoid basal cell carcinoma syndrome and neurofibromatosis type I. American Journal Of Medical Genetics 1991, 40: 206-210. PMID: 1910262, DOI: 10.1002/ajmg.1320400217.
- Farrer L, Bowcock A, Hebert J, Bonne-Tamir B, Sternlieb I, Giagheddu M, George-Hyslop P, Frydman M, Lossner J, Demelia L, Carcassi C, Lee R, Beker R, Bale A, Donis-Keller H, Scheinberg I, Cavalli-Sforza L. Predictive testing for Wilson's disease using tightly linked and flanking DNA markers. Neurology 1991, 41: 992-9. PMID: 2067662, DOI: 10.1212/wnl.41.7.992.
- Bale A, Mitchell A, Gonzalez F, McBride O. Localization of CYP2F1 by multipoint linkage analysis and pulsed-field gel electrophoresis. Genomics 1991, 10: 284-286. PMID: 2045106, DOI: 10.1016/0888-7543(91)90514-f.
- Petersen D, McKinney C, Ikeya K, Smith H, Bale A, McBride O, Nebert D. Human CYP1A1 gene: cosegregation of the enzyme inducibility phenotype and an RFLP. American Journal Of Human Genetics 1991, 48: 720-5. PMID: 1707592, PMCID: PMC1682951.
- Dracopoli N, O'Connell P, Elsner T, Lalouel J, White R, Buetow K, Nishimura D, Murray J, Helms C, Mishra S, Donis-Keller H, Hall J, Lee M, King M, Attwood J, Morton N, Robson E, Mahtani M, Willard H, Royle N, Patel I, Jeffreys A, Verga V, Jenkins T, Weber J, Mitchell A, Bale A. The CEPH consortium linkage map of human chromosome 1. Genomics 1991, 9: 686-700. PMID: 2037294, DOI: 10.1016/0888-7543(91)90362-i.
- Fein H, Burman K, Djuh Y, Usala S, Bale A, Weintraub B, Smallridge R. Tight linkage of the human c-erbAβ gene with the syndrome of generalized thyroid hormone resistance is present in multiple kindreds. Journal Of Endocrinological Investigation 1991, 14: 219-223. PMID: 1677017, DOI: 10.1007/bf03346792.
- Bale A, Norton J, Wong E, Fryburg J, Maton P, Oldfield E, Streeten E, Aurbach G, Brandi M, Friedman E. Allelic loss on chromosome 11 in hereditary and sporadic tumors related to familial multiple endocrine neoplasia type 1. Cancer Research 1991, 51: 1154-7. PMID: 1671755.
- Petty E, Carstens R, Bale A. Ornithine transcarbamylase polymorphism detected by PCR introduction of Dral site. Nucleic Acids Research 1991, 19: 690-690. PMID: 2011544, PMCID: PMC333689, DOI: 10.1093/nar/19.3.690.
- Usala S, Menke J, Watson T, Bérard W, Bradley C, Bale A, Lash R, Weintraub B. A New Point Mutation in the 3,5,3′-Triiodothyronine-Binding Domain of the c-erbAβ Thyroid Hormone Receptor Is Tightly Linked to Generalized Thyroid Hormone Resistance. The Journal Of Clinical Endocrinology & Metabolism 1991, 72: 32-38. PMID: 1846005, DOI: 10.1210/jcem-72-1-32.
- Friedman E, Bale A, Marx S, Norton J, Arnold A, Tu T, Aurbach G, Spiegel A. Genetic Abnormalities in Sporadic Parathyroid Adenomas. The Journal Of Clinical Endocrinology & Metabolism 1990, 71: 293-297. PMID: 2199477, DOI: 10.1210/jcem-71-2-293.
- NAKAYAMA Y, WONDISFORD F, LASH R, BALE A, WEINTRAUB B, CUTLER G, RADOVICK S. Analysis of Gonadotropin-Releasing Hormone Gene Structure in Families with Familial Central Precocious Puberty and Idiopathic Hypogonadotropic Hypogonadism. The Journal Of Clinical Endocrinology & Metabolism 1990, 70: 1233-1238. PMID: 2186053, DOI: 10.1210/jcem-70-5-1233.
- Usala S, Tennyson G, Bale A, Lash R, Gesundheit N, Wondisford F, Accili D, Hauser P, Weintraub B. A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds. Journal Of Clinical Investigation 1990, 85: 93-100. PMID: 2153155, PMCID: PMC296391, DOI: 10.1172/jci114438.
- Bale A, Bale S, Murli H, Ivett J, Mulvihill J, Parry D. Sister chromatid exchange and chromosome fragility in the nevoid basal cell carcinoma syndrome. Cancer Genetics 1989, 42: 273-279. PMID: 2507127, DOI: 10.1016/0165-4608(89)90095-2.
- Friedman E, Sakaguchi K, Bale A, Falchetti A, Streeten E, Zimering M, Weinstein L, McBride W, Nakamura Y, Brandi M, Norton J, Aurbach G, Spiegel A, Marx S. Clonality of Parathyroid Tumors in Familial Multiple Endocrine Neoplasia Type 1. New England Journal Of Medicine 1989, 321: 213-218. PMID: 2568586, DOI: 10.1056/nejm198907273210402.
- Mitchell A, Bale A, Mak T, McBride O. Six RFLPs for human T cell receptor α (TCRA) on chromosome 14. Nucleic Acids Research 1989, 17: 2876-2876. PMID: 2566151, PMCID: PMC317684, DOI: 10.1093/nar/17.7.2876.
- Linkage analysis of multiple endocrine neoplasia type 1 with INT2 and other markers on chromosome 11Bale S, Bale A, Stewart K, Dachowski L, McBride O, Glaser T, Green J, Mulvihill J, Brandi M, Sakaguchi K, Aurbach G, Marx S. Linkage analysis of multiple endocrine neoplasia type 1 with INT2 and other markers on chromosome 11. Genomics 1989, 4: 320-322. PMID: 2565877, DOI: 10.1016/0888-7543(89)90336-4.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 732–757. Cytogenetic And Genome Research 1989, 51: 732-757. DOI: 10.1159/000227792.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 782–806. Cytogenetic And Genome Research 1989, 51: 782-806. DOI: 10.1159/000227794.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 644–676. Cytogenetic And Genome Research 1989, 51: 644-676. DOI: 10.1159/000227789.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 832–861. Cytogenetic And Genome Research 1989, 51: 832-861. DOI: 10.1159/000227796.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 677–701. Cytogenetic And Genome Research 1989, 51: 677-701. DOI: 10.1159/000227790.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 892–921. Cytogenetic And Genome Research 1989, 51: 892-921. DOI: 10.1159/000227798.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 758–781. Cytogenetic And Genome Research 1989, 51: 758-781. DOI: 10.1159/000227793.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 807–831. Cytogenetic And Genome Research 1989, 51: 807-831. DOI: 10.1159/000227795.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 702–731. Cytogenetic And Genome Research 1989, 51: 702-731. DOI: 10.1159/000227791.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 922–947. Cytogenetic And Genome Research 1989, 51: 922-947. DOI: 10.1159/000227799.
- Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard H, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 862–891. Cytogenetic And Genome Research 1989, 51: 862-891. DOI: 10.1159/000227797.
- Kidd KK, Bowcock AM, Schmidtke J, Track RK, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard HF, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 622-643. Cytogenetic And Genome Research 1989, 51: 622-643. PMID: 2676386, DOI: 10.1159/000132810.
- Usala S, Bale A, Gesundheit N, Weinberger C, Lash R, Wondisford F, McBride O, Weintraub B. Tight Linkage between the Syndrome of Generalized Thyroid Hormone Resistance and the Human c-erbAβ Gene. Endocrinology 1988, 2: 1217-1220. PMID: 2905763, DOI: 10.1210/mend-2-12-1217.
- Bale A, Weinberger C, McBride O. A retinoic acid receptor cDNA probe (RAR2) identifies a moderately frequent RFLP on chromosome 17. Nucleic Acids Research 1988, 16: 7755-7755. PMID: 2901069, PMCID: PMC338477, DOI: 10.1093/nar/16.15.7755.
- Bale A, Usala S, Weinberger C, Weintraub B, McBride O. A cDNA probe (PheA12) from the hc-(ERBA) gene on chromosome 3 detects a high frequency RFLP. Nucleic Acids Research 1988, 16: 7756-7756. PMID: 2901070, PMCID: PMC338478, DOI: 10.1093/nar/16.15.7756.
- Bale A, Bale S, Schlesinger S, McFarland H, Opitz J, Reynolds J. Linkage analysis in spinopontine atrophy: Correlation or HLA linkage with phenotypic findings in hereditary ataxia. American Journal Of Medical Genetics 1987, 27: 595-602. PMID: 3477098, DOI: 10.1002/ajmg.1320270312.
- Bale A. Internal Malignancy in Genetic Hemochromatosis. Journal Of The National Cancer Institute 1986, 76: 1260-1261. PMID: 3012180, DOI: 10.1093/jnci/76.6.1260.
- Bale S, Harris E, Bale A. Linkage relationships among four 11p markers in the Utah dataset. Genetic Epidemiology. Supplement 1986, 3: 117-121. PMID: 3471653, DOI: 10.1002/gepi.1370030718.
- Bale A, Drum M, Parry D, Mulvihill J, Opitz J, Reynolds J. Familial Sotos syndrome (cerebral gigantism): Craniofacial and psychological characteristics. American Journal Of Medical Genetics 1985, 20: 613-624. PMID: 2581446, DOI: 10.1002/ajmg.1320200407.
- Bale A, Ludwig I, Effron L, Zakov Z, Opitz J, Reynolds J. Linkage between the genes for Wolfram syndrome and brachydactyly E. American Journal Of Medical Genetics 1985, 20: 733-734. PMID: 3993691, DOI: 10.1002/ajmg.1320200420.
- The “Family Study” Approach to Investigating the Role of Genetic Factors in Nasopharyngeal CarcinomaBale S, Bale A, Levine P. The “Family Study” Approach to Investigating the Role of Genetic Factors in Nasopharyngeal Carcinoma. Developments In Medical Virology 1985, 131-144. DOI: 10.1007/978-1-4613-2625-0_11.
Locations
Yale Genetics
Yale New Haven Hospital
20 York Street, Ste West Pavilion 2nd Floor
New Haven, CT 06510
- Yale GeneticsYale New Haven Hospital20 York Street, Ste West Pavilion 2nd FloorNew Haven, CT 06510
Yale Genetics
Yale New Haven Hospital
20 York Street, Ste West Pavilion 2nd Floor
New Haven, CT 06510
- Yale GeneticsYale New Haven Hospital20 York Street, Ste West Pavilion 2nd FloorNew Haven, CT 06510