- Yale Pediatric CardiologyYale New Haven Children's Hospital1 Park Street, Ste West Pavilion-2nd FloorNew Haven, CT 06504
- Yale Pediatric GeneticsYale New Haven Children's Hospital1 Park Street, Ste West Pavilion, 2nd floorNew Haven, CT 06504
Martina Brueckner, MD
Biography
Martina Brueckner, MD, is a pediatric cardiologist who integrates the latest findings in the genetic causes of congenital heart disease into her patient care. She says Yale Medicine provides a unique genetics-cardiology clinic that combines care for patients with congenital heart disease with state-of-the-art genetic testing and counseling. She tells new parents, “You did not cause your child's heart disease. Most people with congenital heart disease today survive.”
A professor of pediatrics (cardiology) at Yale School of Medicine, Dr. Brueckner is also an active researcher seeking to expand knowledge of the genomic underpinnings of congenital heart disease. “The goal of my work is to determine the genetic cause and developmental mechanisms underlying congenital heart disease, and to use those discoveries to improve care,” she says.
Dr. Brueckner is excited by significant advances in the understanding of congenital heart disease genetics, and she believes they will eventually allow doctors to optimize outcomes by tailoring care to each individual patient. “I am certain that we can dramatically improve the quality of life for people with congenital heart disease through research focused on the basic underlying causes,” she says.
Titles
- Professor of Pediatrics (Cardiology)
Education & Training
- FellowYale University School of Medicine (1990)
- ResidentUniversity of Pittsburgh Children's Hospital (1987)
- InternUniversity of Pittsburgh, School of Medicine (1985)
- MDUniversity of Virginia (1984)
Languages Spoken
- English
- Deutsch (German)
Additional Information
- Member: Association of American Physicians (AAP) (2023)
- Member: American Pediatric Society (2019)
- NHLBI Outstanding Investigator: NIH-NHLBI (2019)
- NIH (2009 - Present): Reviewer
- American Heart Association Founders Affiliate Research Committee (2009 - Present): Member
- Gordon Research Conference on Cilia and Mucociliary Interactions (2009 - 2013): Meeting organizer
- Medical School Admissions Committee: Member
- O'Brien M, Pryzhkova M, Lake E, Mandino F, Shen X, Karnik R, Atkins A, Xu M, Ji W, Konstantino M, Brueckner M, Ment L, Khokha M, Jordan P. SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability. International Journal Of Molecular Sciences 2023, 25: 430. PMID: 38203602, PMCID: PMC10779392, DOI: 10.3390/ijms25010430.
- Barish S, Berg K, Drozd J, Berglund-Brown I, Khizir L, Wasson L, Seidman C, Seidman J, Chen S, Brueckner M. The H2Bub1-deposition complex is required for human and mouse cardiogenesis. Development 2023, 150: dev201899. PMID: 38038666, PMCID: PMC10730087, DOI: 10.1242/dev.201899.
- Tambi R, Zehra B, Nandkishore S, Sharafat S, Kader F, Nassir N, Mohamed N, Ahmed A, Abdel Hameid R, Alasrawi S, Brueckner M, Kuebler W, Chung W, Alsheikh-Ali A, Di Donato R, Uddin M, Berdiev B. Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease. Physiological Genomics 2023, 55: 634-646. PMID: 37811720, DOI: 10.1152/physiolgenomics.00070.2023.
- Li Y, Xu W, Makova S, Brueckner M, Sun Z. Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse. ELife 2023, 12: e82395. PMID: 36920028, PMCID: PMC10154023, DOI: 10.7554/elife.82395.
- Lewis M, Hsieh A, Qiao L, Tan R, Kazzi B, Channing A, Griffin E, Jobanputra V, Su J, Shahryar C, Kochilas L, Gaynor J, Lee T, Goldmuntz E, Russell M, Mital S, Tristani M, Brueckner M, Newburger J, Shen Y, Chung W. Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease. Circulation Genomic And Precision Medicine 2023, 16: e003900. PMID: 36866680, PMCID: PMC10121832, DOI: 10.1161/circgen.122.003900.
- Djenoune L, Mahamdeh M, Truong T, Nguyen C, Fraser S, Brueckner M, Howard J, Yuan S. Cilia function as calcium-mediated mechanosensors that instruct left-right asymmetry. Science 2023, 379: 71-78. PMID: 36603098, PMCID: PMC9939240, DOI: 10.1126/science.abq7317.
- Morton S, Norris-Brilliant A, Cunningham S, King E, Goldmuntz E, Brueckner M, Miller T, Thomas N, Liu C, Adams H, Bellinger D, Cleveland J, Cnota J, Dale A, Frommelt M, Gelb B, Grant P, Goldberg C, Huang H, Kuperman J, Li J, McQuillen P, Panigrahy A, Porter G, Roberts A, Russell M, Seidman C, Tivarus M, Anagnoustou E, Hagler D, Chung W, Newburger J. Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease. JAMA Network Open 2023, 6: e2253191. PMID: 36701153, PMCID: PMC9880793, DOI: 10.1001/jamanetworkopen.2022.53191.
- Xie Y, Jiang W, Dong W, Li H, Jin SC, Brueckner M, Zhao H. Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease. PLOS Genetics 2022, 18: e1010252. PMID: 35671298, PMCID: PMC9205499, DOI: 10.1371/journal.pgen.1010252.
- Guo H, Hou L, Shi Y, Jin SC, Zeng X, Li B, Lifton R, Brueckner M, Zhao H, Lu Q. Quantifying concordant genetic effects of de novo mutations on multiple disorders. ELife 2022, 11: e75551. PMID: 35666111, PMCID: PMC9217133, DOI: 10.7554/elife.75551.
- Dong W, Kaymakcalan H, Jin SC, Diab NS, Tanıdır C, Yalcin ASY, Ercan‐Sencicek A, Mane S, Gunel M, Lifton RP, Bilguvar K, Brueckner M. Mutation spectrum of congenital heart disease in a consanguineous Turkish population. Molecular Genetics & Genomic Medicine 2022, 10: e1944. PMID: 35481623, PMCID: PMC9184665, DOI: 10.1002/mgg3.1944.
- Willcox JAL, Geiger JT, Morton SU, McKean D, Quiat D, Gorham JM, Tai AC, DePalma S, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb B, Porter GA, Seidman JG, Seidman CE. Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk. American Journal Of Human Genetics 2022, 109: 961-966. PMID: 35397206, PMCID: PMC9118105, DOI: 10.1016/j.ajhg.2022.03.011.
- Morton SU, Pereira AC, Quiat D, Richter F, Kitaygorodsky A, Hagen J, Bernstein D, Brueckner M, Goldmuntz E, Kim RW, Lifton RP, Porter GA, Tristani-Firouzi M, Chung WK, Roberts A, Gelb BD, Shen Y, Newburger JW, Seidman JG, Seidman CE. Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity. Circulation Genomic And Precision Medicine 2022, 15: e003500. PMID: 35130025, PMCID: PMC9295870, DOI: 10.1161/circgen.121.003500.
- Djenoune L, Berg K, Brueckner M, Yuan S. A change of heart: new roles for cilia in cardiac development and disease. Nature Reviews Cardiology 2021, 19: 211-227. PMID: 34862511, PMCID: PMC10161238, DOI: 10.1038/s41569-021-00635-z.
- Diab NS, Barish S, Dong W, Zhao S, Allington G, Yu X, Kahle KT, Brueckner M, Jin SC. Molecular Genetics and Complex Inheritance of Congenital Heart Disease. Genes 2021, 12: 1020. PMID: 34209044, PMCID: PMC8307500, DOI: 10.3390/genes12071020.
- Li M, Zeng X, Jin C, Jin SC, Dong W, Brueckner M, Lifton R, Lu Q, Zhao H. Integrative modeling of transmitted and de novo variants identifies novel risk genes for congenital heart disease. Quantitative Biology 2021, 9: 216-227. PMID: 35414959, PMCID: PMC9000521, DOI: 10.15302/j-qb-021-0248.
- Morton SU, Shimamura A, Newburger PE, Opotowsky AR, Quiat D, Pereira AC, Jin SC, Gurvitz M, Brueckner M, Chung WK, Shen Y, Bernstein D, Gelb BD, Giardini A, Goldmuntz E, Kim RW, Lifton RP, Porter GA, Srivastava D, Tristani-Firouzi M, Newburger JW, Seidman JG, Seidman CE. Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease. JAMA Cardiology 2021, 6: 457-462. PMID: 33084842, PMCID: PMC7578917, DOI: 10.1001/jamacardio.2020.4947.
- Ward T, Tai W, Morton S, Impens F, Van Damme P, Van Haver D, Timmerman E, Venturini G, Zhang K, Jang MY, Willcox JAL, Haghighi A, Gelb BD, Chung WK, Goldmuntz E, Porter GA, Lifton R, Brueckner M, Yost HJ, Bruneau BG, Gorham J, Kim Y, Pereira A, Homsy J, Benson CC, DePalma SR, Varland S, Chen CS, Arnesen T, Gevaert K, Seidman C, Seidman JG. Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency. Circulation Research 2021, 128: 1156-1169. PMID: 33557580, PMCID: PMC8048381, DOI: 10.1161/circresaha.120.316966.
- Boskovski MT, Homsy J, Nathan M, Sleeper LA, Morton S, Manheimer KB, Tai A, Gorham J, Lewis M, Swartz M, Alfieris GM, Bacha EA, Karimi M, Meyer D, Nguyen K, Bernstein D, Romano-Adesman A, Porter GA, Goldmuntz E, Chung WK, Srivastava D, Kaltman JR, Tristani-Firouzi M, Lifton R, Roberts AE, Gaynor JW, Gelb BD, Kim R, Seidman JG, Brueckner M, Mayer JE, Newburger JW, Seidman CE. De novo Damaging Variants, Clinical Phenotypes and Post-Operative Outcomes in Congenital Heart Disease. Circulation Genomic And Precision Medicine 2020, 13: e002836-e002836. PMID: 32812804, PMCID: PMC7439931, DOI: 10.1161/circgen.119.002836.
- Richter F, Morton SU, Kim SW, Kitaygorodsky A, Wasson LK, Chen KM, Zhou J, Qi H, Patel N, DePalma SR, Parfenov M, Homsy J, Gorham JM, Manheimer KB, Velinder M, Farrell A, Marth G, Schadt EE, Kaltman JR, Newburger JW, Giardini A, Goldmuntz E, Brueckner M, Kim R, Porter GA, Bernstein D, Chung WK, Srivastava D, Tristani-Firouzi M, Troyanskaya OG, Dickel DE, Shen Y, Seidman JG, Seidman CE, Gelb BD. Genomic analyses implicate noncoding de novo variants in congenital heart disease. Nature Genetics 2020, 52: 769-777. PMID: 32601476, PMCID: PMC7415662, DOI: 10.1038/s41588-020-0652-z.
- Hsieh A, Morton SU, Willcox JAL, Gorham JM, Tai AC, Qi H, DePalma S, McKean D, Griffin E, Manheimer KB, Bernstein D, Kim RW, Newburger JW, Porter GA, Srivastava D, Tristani-Firouzi M, Brueckner M, Lifton RP, Goldmuntz E, Gelb BD, Chung WK, Seidman CE, Seidman JG, Shen Y. EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. Genome Medicine 2020, 12: 42. PMID: 32349777, PMCID: PMC7189690, DOI: 10.1186/s13073-020-00738-1.
- Ji W, Ferdman D, Copel J, Scheinost D, Shabanova V, Brueckner M, Khokha MK, Ment LR. De novo damaging variants associated with congenital heart diseases contribute to the connectome. Scientific Reports 2020, 10: 7046. PMID: 32341405, PMCID: PMC7184603, DOI: 10.1038/s41598-020-63928-2.
- Edwards JJ, Rouillard AD, Fernandez NF, Wang Z, Lachmann A, Shankaran SS, Bisgrove BW, Demarest B, Turan N, Srivastava D, Bernstein D, Deanfield J, Giardini A, Porter G, Kim R, Roberts AE, Newburger JW, Goldmuntz E, Brueckner M, Lifton RP, Seidman CE, Chung WK, Tristani-Firouzi M, Yost HJ, Ma’ayan A, Gelb BD. Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. JACC Basic To Translational Science 2020, 5: 376-386. PMID: 32368696, PMCID: PMC7188873, DOI: 10.1016/j.jacbts.2020.01.012.
- Watkins WS, Hernandez EJ, Wesolowski S, Bisgrove BW, Sunderland RT, Lin E, Lemmon G, Demarest BL, Miller TA, Bernstein D, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Newburger JW, Seidman CE, Shen Y, Yost HJ, Yandell M, Tristani-Firouzi M. De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. Nature Communications 2019, 10: 4722. PMID: 31624253, PMCID: PMC6797711, DOI: 10.1038/s41467-019-12582-y.
- Robson A, Makova SZ, Barish S, Zaidi S, Mehta S, Drozd J, Jin SC, Gelb BD, Seidman CE, Chung WK, Lifton RP, Khokha MK, Brueckner M. Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 14049-14054. PMID: 31235600, PMCID: PMC6628794, DOI: 10.1073/pnas.1808341116.
- Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW, Medicine O. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. Circulation 2018, 138: 1. PMID: 30571578, PMCID: PMC6555769, DOI: 10.1161/cir.0000000000000606.
- Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner M. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nature Genetics 2017, 49: 1593-1601. PMID: 28991257, PMCID: PMC5675000, DOI: 10.1038/ng.3970.
- Endicott S, Basu B, Khokha M, Brueckner M. The NIMA-like kinase Nek2 is a key switch balancing cilia biogenesis and resorption in the development of left-right asymmetry. Journal Of Cell Science 2015, 128: e1.1-e1.1. DOI: 10.1242/jcs.184002.
- De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomaliesHomsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA, Kim R, Bilguvar K, López-Giráldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science 2015, 350: 1262-1266. PMID: 26785492, PMCID: PMC4890146, DOI: 10.1126/science.aac9396.
- Yuan S, Zhao L, Brueckner M, Sun Z. Intraciliary Calcium Oscillations Initiate Vertebrate Left-Right Asymmetry. Current Biology 2015, 25: 556-567. PMID: 25660539, PMCID: PMC4469357, DOI: 10.1016/j.cub.2014.12.051.
- Endicott SJ, Basu B, Khokha M, Brueckner M. The NIMA-like kinase Nek2 is a key switch balancing cilia biogenesis and resorption in the development of left-right asymmetry. Development 2015, 142: 4068-4079. PMID: 26493400, PMCID: PMC4712839, DOI: 10.1242/dev.126953.
- Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia MJ, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe’er I, Porter G, Roberts AE, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Seidman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE, Lifton RP. De novo mutations in histone-modifying genes in congenital heart disease. Nature 2013, 498: 220-223. PMID: 23665959, PMCID: PMC3706629, DOI: 10.1038/nature12141.
- Gelb B, Brueckner M, Chung W, Goldmuntz E, Kaltman J, Pablo Kaski J, Kim R, Kline J, Mercer-Rosa L, Porter G, Roberts A, Rosenberg E, Seiden H, Seidman C, Sleeper L, Tennstedt S, Kaltman J, Schramm C, Burns K, Pearson G, Rosenberg E, Newburger J, Breitbart R, Colan S, Geva J, Monafo A, Roberts A, Stryker J, Seidman C, McDonough B, Seidman J, Goldmuntz E, Edman S, Garbarini J, Hakonarson H, Mercer-Rosa L, Mitchell L, Tusi J, White P, Woyciechowski S, Chung W, Warburton D, Awad D, Celia K, Etwaru D, Sond J, Kline J, Korsin R, Lanz A, Marquez E, Williams I, Wilpers A, Yee R, Gelb B, Guevara D, Julian A, Mac Neal M, Mintz C, Peter I, Sachidanandam R, Seiden H, Romano-Adesman A, Gruber D, Stellato N, Brueckner M, Lifton R, Cross N, Deanfield J, Giardini A, Flack K, Porter G, Taillie E, Kim R, Tran N, Tennstedt S, Breitbart R, Dandreo K, Gallagher D, Lu M, Sleeper L, Berlin D, Beiswanger C, Lifton R, Seidman J, Hakonarson H, White P, Italia M, Chung W, Seidman C, Brooks (Chair) M, Olive M, Botkin J, Dupuis J, Garg V, Watson M, Bristow J, Evans T, Kendziorski C, Mardis E, Murray J, Saltz J, Wong H. The Congenital Heart Disease Genetic Network Study. Circulation Research 2013, 112: 698-706. PMID: 23410879, PMCID: PMC3679175, DOI: 10.1161/circresaha.111.300297.
- Chung W, Boskovski M, Brueckner M, Anyane-Yeboa K, Gupta P. Chapter 17 The Genetics of Fetal and Neonatal Cardiovascular Disease. 2012, 343-376. DOI: 10.1016/b978-1-4377-2763-0.00017-2.
- Brueckner M, McGrath J, Makova S. Cilia have Multiple Roles in the Development of the Vertebrate Left-Right Axis. Microscopy And Microanalysis 2008, 14: 1480-1481. DOI: 10.1017/s1431927608085681.
- Brueckner M, Slough J, Cooney L. Monocilia in the embryonic mouse heart imply a direct role for cilia in cardiac morphogenesis. Developmental Biology 2008, 319: 602. DOI: 10.1016/j.ydbio.2008.05.436.
- Brueckner M. Heterotaxia, Congenital Heart Disease, and Primary Ciliary Dyskinesia. Circulation 2007, 115: 2793-2795. PMID: 17548739, DOI: 10.1161/circulationaha.107.699256.
- McGrath J, Somlo S, Makova S, Tian X, Brueckner M. Two Populations of Node Monocilia Initiate Left-Right Asymmetry in the Mouse. Cell 2003, 114: 61-73. PMID: 12859898, DOI: 10.1016/s0092-8674(03)00511-7.
- Essner JJ, Vogan KJ, Wagner MK, Tabin CJ, Yost HJ, Brueckner M. Conserved function for embryonic nodal cilia. Nature 2002, 418: 37-38. PMID: 12097899, DOI: 10.1038/418037a.
- Brueckner M. Cilia propel the embryo in the right direction. American Journal Of Medical Genetics 2001, 101: 339-344. PMID: 11471157, DOI: 10.1002/1096-8628(20010715)101:4<339::aid-ajmg1442>3.0.co;2-p.
- Supp D, Potter S, Brueckner M, Supp D, Potter S, Brueckner M. Molecular motors: the driving force behind mammalian left–right development. Trends In Cell Biology 2000, 10: 41-45. PMID: 10652513, DOI: 10.1016/s0962-8924(99)01701-8.
- Schneider H, Brueckner M. Of mice and men: Dissecting the genetic pathway that controls left‐right asymmetry in mice and humans. American Journal Of Medical Genetics 2000, 97: 258-270. PMID: 11376437, DOI: 10.1002/1096-8628(200024)97:4<258::aid-ajmg1276>3.0.co;2-8.
- Supp D, Brueckner M, Kuehn M, Witte D, Lowe L, McGrath J, Corrales J, Potter S. Targeted deletion of the ATP binding domain of left-right dynein confirms its role in specifying development of left-right asymmetries. Development 1999, 126: 5495-5504. PMID: 10556073, PMCID: PMC1797880, DOI: 10.1242/dev.126.23.5495.
- Pehlivan T, Pober B, Brueckner M, Garrett S, Slaugh R, Van Rheeden R, Wilson D, Watson M, Hing A. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. American Journal Of Medical Genetics 1999, 83: 201-206. PMID: 10096597, DOI: 10.1002/(sici)1096-8628(19990319)83:3<201::aid-ajmg11>3.0.co;2-v.
- Supp D, Brueckner M, Potter S. Handed asymmetry in the mouse: Understanding how things go right (or left) by studying how they go wrong. Seminars In Cell And Developmental Biology 1998, 9: 77-87. PMID: 9572117, DOI: 10.1006/scdb.1997.0186.
- Supp D, Witte D, Potter S, Brueckner M. Mutation of an axonemal dynein affects left–right asymmetry in inversus viscerum mice. Nature 1997, 389: 963-966. PMID: 9353118, PMCID: PMC1800588, DOI: 10.1038/40140.
- Bowers P, Brueckner M, Yost H. The genetics of left-right development and heterotaxia. Seminars In Perinatology 1996, 20: 577-588. PMID: 9090782, DOI: 10.1016/s0146-0005(96)80070-x.
- Bowers P, Brueckner M, Yost H. Laterality disturbances. Progress In Pediatric Cardiology 1996, 6: 53-62. DOI: 10.1016/1058-9813(96)00171-3.
- Bowers P, Yoon J, Horwich A, Brueckner M. ANALYSIS OF A CANDIDATE MOUSE IV (INVERSUS VISCERUM) GENE. • 123. Pediatric Research 1996, 39: 23-23. DOI: 10.1203/00006450-199604001-00142.
- Rounds D, Brueckner M, Ward DC. Isolation of murine telomere-proximal sequences by affinity capture and PCR. Genomics 1995, 29: 616-22. PMID: 8575753, DOI: 10.1006/geno.1995.9958.
- Howrich A, Brueckner M. Left, right and without a cue. Nature Genetics 1993, 5: 321-322. PMID: 8298636, DOI: 10.1038/ng1293-321.
- Chang J, Brueckner M, Touloukian RJ. Intestinal rotation and fixation abnormalities in heterotaxia: early detection and management. Journal Of Pediatric Surgery 1993, 28: 1281-4; discussion 1285. PMID: 8263687, DOI: 10.1016/s0022-3468(05)80313-6.
- Bulbul ZR, Rosenthal D, Brueckner M. Genetic aspects of heart disease in the newborn. Seminars In Perinatology 1993, 17: 61-75. PMID: 8327904.
- Dewar ML, Kleinman C, Hellenbrand W, Fahey J, Talner N, Brueckner M, Kopf GS. Neonatal correction of transposition of the great arteries: the Connecticut experience. Connecticut Medicine 1992, 56: 671-4. PMID: 1288934.
- McGrath J, Horwich A, Brueckner M. Duplication/deficiency mapping of situs inversus viscerum (iv), a gene that determines left-right asymmetry in the mouse. Genomics 1992, 14: 643-648. PMID: 1427890, DOI: 10.1016/s0888-7543(05)80163-6.
- Brueckner M, McGrath J, D'Eustachio P, Horwich A. Establishment of Left‐Right Asymmetry in Vertebrates: Genetically Distinct Steps are Involved. 1991, 162: 202-218. PMID: 1802643, DOI: 10.1002/9780470514160.ch12.
- Brueckner M, D'Eustachio P, Horwich AL. Linkage mapping of a mouse gene, iv, that controls left-right asymmetry of the heart and viscera. Proceedings Of The National Academy Of Sciences Of The United States Of America 1989, 86: 5035-5038. PMID: 2740340, PMCID: PMC297551, DOI: 10.1073/pnas.86.13.5035.
- Brueckner M, D'Eustachio P, Horwich A. Linkage mapping of a mouse gene, iv, that controls left-right asymmetry of the heart and viscera. Trends In Genetics 1989, 5: 324. DOI: 10.1016/0168-9525(89)90134-0.
- Yale Pediatric CardiologyYale New Haven Children's Hospital1 Park Street, Ste West Pavilion-2nd FloorNew Haven, CT 06504
- Yale Pediatric GeneticsYale New Haven Children's Hospital1 Park Street, Ste West Pavilion, 2nd floorNew Haven, CT 06504
Biography
Martina Brueckner, MD, is a pediatric cardiologist who integrates the latest findings in the genetic causes of congenital heart disease into her patient care. She says Yale Medicine provides a unique genetics-cardiology clinic that combines care for patients with congenital heart disease with state-of-the-art genetic testing and counseling. She tells new parents, “You did not cause your child's heart disease. Most people with congenital heart disease today survive.”
A professor of pediatrics (cardiology) at Yale School of Medicine, Dr. Brueckner is also an active researcher seeking to expand knowledge of the genomic underpinnings of congenital heart disease. “The goal of my work is to determine the genetic cause and developmental mechanisms underlying congenital heart disease, and to use those discoveries to improve care,” she says.
Dr. Brueckner is excited by significant advances in the understanding of congenital heart disease genetics, and she believes they will eventually allow doctors to optimize outcomes by tailoring care to each individual patient. “I am certain that we can dramatically improve the quality of life for people with congenital heart disease through research focused on the basic underlying causes,” she says.
Titles
- Professor of Pediatrics (Cardiology)
Education & Training
- FellowYale University School of Medicine (1990)
- ResidentUniversity of Pittsburgh Children's Hospital (1987)
- InternUniversity of Pittsburgh, School of Medicine (1985)
- MDUniversity of Virginia (1984)
Languages Spoken
- English
- Deutsch (German)
Additional Information
- Member: Association of American Physicians (AAP) (2023)
- Member: American Pediatric Society (2019)
- NHLBI Outstanding Investigator: NIH-NHLBI (2019)
- NIH (2009 - Present): Reviewer
- American Heart Association Founders Affiliate Research Committee (2009 - Present): Member
- Gordon Research Conference on Cilia and Mucociliary Interactions (2009 - 2013): Meeting organizer
- Medical School Admissions Committee: Member
- O'Brien M, Pryzhkova M, Lake E, Mandino F, Shen X, Karnik R, Atkins A, Xu M, Ji W, Konstantino M, Brueckner M, Ment L, Khokha M, Jordan P. SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability. International Journal Of Molecular Sciences 2023, 25: 430. PMID: 38203602, PMCID: PMC10779392, DOI: 10.3390/ijms25010430.
- Barish S, Berg K, Drozd J, Berglund-Brown I, Khizir L, Wasson L, Seidman C, Seidman J, Chen S, Brueckner M. The H2Bub1-deposition complex is required for human and mouse cardiogenesis. Development 2023, 150: dev201899. PMID: 38038666, PMCID: PMC10730087, DOI: 10.1242/dev.201899.
- Tambi R, Zehra B, Nandkishore S, Sharafat S, Kader F, Nassir N, Mohamed N, Ahmed A, Abdel Hameid R, Alasrawi S, Brueckner M, Kuebler W, Chung W, Alsheikh-Ali A, Di Donato R, Uddin M, Berdiev B. Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease. Physiological Genomics 2023, 55: 634-646. PMID: 37811720, DOI: 10.1152/physiolgenomics.00070.2023.
- Li Y, Xu W, Makova S, Brueckner M, Sun Z. Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse. ELife 2023, 12: e82395. PMID: 36920028, PMCID: PMC10154023, DOI: 10.7554/elife.82395.
- Lewis M, Hsieh A, Qiao L, Tan R, Kazzi B, Channing A, Griffin E, Jobanputra V, Su J, Shahryar C, Kochilas L, Gaynor J, Lee T, Goldmuntz E, Russell M, Mital S, Tristani M, Brueckner M, Newburger J, Shen Y, Chung W. Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease. Circulation Genomic And Precision Medicine 2023, 16: e003900. PMID: 36866680, PMCID: PMC10121832, DOI: 10.1161/circgen.122.003900.
- Djenoune L, Mahamdeh M, Truong T, Nguyen C, Fraser S, Brueckner M, Howard J, Yuan S. Cilia function as calcium-mediated mechanosensors that instruct left-right asymmetry. Science 2023, 379: 71-78. PMID: 36603098, PMCID: PMC9939240, DOI: 10.1126/science.abq7317.
- Morton S, Norris-Brilliant A, Cunningham S, King E, Goldmuntz E, Brueckner M, Miller T, Thomas N, Liu C, Adams H, Bellinger D, Cleveland J, Cnota J, Dale A, Frommelt M, Gelb B, Grant P, Goldberg C, Huang H, Kuperman J, Li J, McQuillen P, Panigrahy A, Porter G, Roberts A, Russell M, Seidman C, Tivarus M, Anagnoustou E, Hagler D, Chung W, Newburger J. Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease. JAMA Network Open 2023, 6: e2253191. PMID: 36701153, PMCID: PMC9880793, DOI: 10.1001/jamanetworkopen.2022.53191.
- Xie Y, Jiang W, Dong W, Li H, Jin SC, Brueckner M, Zhao H. Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease. PLOS Genetics 2022, 18: e1010252. PMID: 35671298, PMCID: PMC9205499, DOI: 10.1371/journal.pgen.1010252.
- Guo H, Hou L, Shi Y, Jin SC, Zeng X, Li B, Lifton R, Brueckner M, Zhao H, Lu Q. Quantifying concordant genetic effects of de novo mutations on multiple disorders. ELife 2022, 11: e75551. PMID: 35666111, PMCID: PMC9217133, DOI: 10.7554/elife.75551.
- Dong W, Kaymakcalan H, Jin SC, Diab NS, Tanıdır C, Yalcin ASY, Ercan‐Sencicek A, Mane S, Gunel M, Lifton RP, Bilguvar K, Brueckner M. Mutation spectrum of congenital heart disease in a consanguineous Turkish population. Molecular Genetics & Genomic Medicine 2022, 10: e1944. PMID: 35481623, PMCID: PMC9184665, DOI: 10.1002/mgg3.1944.
- Willcox JAL, Geiger JT, Morton SU, McKean D, Quiat D, Gorham JM, Tai AC, DePalma S, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb B, Porter GA, Seidman JG, Seidman CE. Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk. American Journal Of Human Genetics 2022, 109: 961-966. PMID: 35397206, PMCID: PMC9118105, DOI: 10.1016/j.ajhg.2022.03.011.
- Morton SU, Pereira AC, Quiat D, Richter F, Kitaygorodsky A, Hagen J, Bernstein D, Brueckner M, Goldmuntz E, Kim RW, Lifton RP, Porter GA, Tristani-Firouzi M, Chung WK, Roberts A, Gelb BD, Shen Y, Newburger JW, Seidman JG, Seidman CE. Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity. Circulation Genomic And Precision Medicine 2022, 15: e003500. PMID: 35130025, PMCID: PMC9295870, DOI: 10.1161/circgen.121.003500.
- Djenoune L, Berg K, Brueckner M, Yuan S. A change of heart: new roles for cilia in cardiac development and disease. Nature Reviews Cardiology 2021, 19: 211-227. PMID: 34862511, PMCID: PMC10161238, DOI: 10.1038/s41569-021-00635-z.
- Diab NS, Barish S, Dong W, Zhao S, Allington G, Yu X, Kahle KT, Brueckner M, Jin SC. Molecular Genetics and Complex Inheritance of Congenital Heart Disease. Genes 2021, 12: 1020. PMID: 34209044, PMCID: PMC8307500, DOI: 10.3390/genes12071020.
- Li M, Zeng X, Jin C, Jin SC, Dong W, Brueckner M, Lifton R, Lu Q, Zhao H. Integrative modeling of transmitted and de novo variants identifies novel risk genes for congenital heart disease. Quantitative Biology 2021, 9: 216-227. PMID: 35414959, PMCID: PMC9000521, DOI: 10.15302/j-qb-021-0248.
- Morton SU, Shimamura A, Newburger PE, Opotowsky AR, Quiat D, Pereira AC, Jin SC, Gurvitz M, Brueckner M, Chung WK, Shen Y, Bernstein D, Gelb BD, Giardini A, Goldmuntz E, Kim RW, Lifton RP, Porter GA, Srivastava D, Tristani-Firouzi M, Newburger JW, Seidman JG, Seidman CE. Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease. JAMA Cardiology 2021, 6: 457-462. PMID: 33084842, PMCID: PMC7578917, DOI: 10.1001/jamacardio.2020.4947.
- Ward T, Tai W, Morton S, Impens F, Van Damme P, Van Haver D, Timmerman E, Venturini G, Zhang K, Jang MY, Willcox JAL, Haghighi A, Gelb BD, Chung WK, Goldmuntz E, Porter GA, Lifton R, Brueckner M, Yost HJ, Bruneau BG, Gorham J, Kim Y, Pereira A, Homsy J, Benson CC, DePalma SR, Varland S, Chen CS, Arnesen T, Gevaert K, Seidman C, Seidman JG. Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency. Circulation Research 2021, 128: 1156-1169. PMID: 33557580, PMCID: PMC8048381, DOI: 10.1161/circresaha.120.316966.
- Boskovski MT, Homsy J, Nathan M, Sleeper LA, Morton S, Manheimer KB, Tai A, Gorham J, Lewis M, Swartz M, Alfieris GM, Bacha EA, Karimi M, Meyer D, Nguyen K, Bernstein D, Romano-Adesman A, Porter GA, Goldmuntz E, Chung WK, Srivastava D, Kaltman JR, Tristani-Firouzi M, Lifton R, Roberts AE, Gaynor JW, Gelb BD, Kim R, Seidman JG, Brueckner M, Mayer JE, Newburger JW, Seidman CE. De novo Damaging Variants, Clinical Phenotypes and Post-Operative Outcomes in Congenital Heart Disease. Circulation Genomic And Precision Medicine 2020, 13: e002836-e002836. PMID: 32812804, PMCID: PMC7439931, DOI: 10.1161/circgen.119.002836.
- Richter F, Morton SU, Kim SW, Kitaygorodsky A, Wasson LK, Chen KM, Zhou J, Qi H, Patel N, DePalma SR, Parfenov M, Homsy J, Gorham JM, Manheimer KB, Velinder M, Farrell A, Marth G, Schadt EE, Kaltman JR, Newburger JW, Giardini A, Goldmuntz E, Brueckner M, Kim R, Porter GA, Bernstein D, Chung WK, Srivastava D, Tristani-Firouzi M, Troyanskaya OG, Dickel DE, Shen Y, Seidman JG, Seidman CE, Gelb BD. Genomic analyses implicate noncoding de novo variants in congenital heart disease. Nature Genetics 2020, 52: 769-777. PMID: 32601476, PMCID: PMC7415662, DOI: 10.1038/s41588-020-0652-z.
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- Ji W, Ferdman D, Copel J, Scheinost D, Shabanova V, Brueckner M, Khokha MK, Ment LR. De novo damaging variants associated with congenital heart diseases contribute to the connectome. Scientific Reports 2020, 10: 7046. PMID: 32341405, PMCID: PMC7184603, DOI: 10.1038/s41598-020-63928-2.
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- Watkins WS, Hernandez EJ, Wesolowski S, Bisgrove BW, Sunderland RT, Lin E, Lemmon G, Demarest BL, Miller TA, Bernstein D, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Newburger JW, Seidman CE, Shen Y, Yost HJ, Yandell M, Tristani-Firouzi M. De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. Nature Communications 2019, 10: 4722. PMID: 31624253, PMCID: PMC6797711, DOI: 10.1038/s41467-019-12582-y.
- Robson A, Makova SZ, Barish S, Zaidi S, Mehta S, Drozd J, Jin SC, Gelb BD, Seidman CE, Chung WK, Lifton RP, Khokha MK, Brueckner M. Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 14049-14054. PMID: 31235600, PMCID: PMC6628794, DOI: 10.1073/pnas.1808341116.
- Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW, Medicine O. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. Circulation 2018, 138: 1. PMID: 30571578, PMCID: PMC6555769, DOI: 10.1161/cir.0000000000000606.
- Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner M. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nature Genetics 2017, 49: 1593-1601. PMID: 28991257, PMCID: PMC5675000, DOI: 10.1038/ng.3970.
- Endicott S, Basu B, Khokha M, Brueckner M. The NIMA-like kinase Nek2 is a key switch balancing cilia biogenesis and resorption in the development of left-right asymmetry. Journal Of Cell Science 2015, 128: e1.1-e1.1. DOI: 10.1242/jcs.184002.
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- Yuan S, Zhao L, Brueckner M, Sun Z. Intraciliary Calcium Oscillations Initiate Vertebrate Left-Right Asymmetry. Current Biology 2015, 25: 556-567. PMID: 25660539, PMCID: PMC4469357, DOI: 10.1016/j.cub.2014.12.051.
- Endicott SJ, Basu B, Khokha M, Brueckner M. The NIMA-like kinase Nek2 is a key switch balancing cilia biogenesis and resorption in the development of left-right asymmetry. Development 2015, 142: 4068-4079. PMID: 26493400, PMCID: PMC4712839, DOI: 10.1242/dev.126953.
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- Yale Pediatric CardiologyYale New Haven Children's Hospital1 Park Street, Ste West Pavilion-2nd FloorNew Haven, CT 06504
- Yale Pediatric GeneticsYale New Haven Children's Hospital1 Park Street, Ste West Pavilion, 2nd floorNew Haven, CT 06504
- Yale Pediatric CardiologyYale New Haven Children's Hospital1 Park Street, Ste West Pavilion-2nd FloorNew Haven, CT 06504
- Yale Pediatric GeneticsYale New Haven Children's Hospital1 Park Street, Ste West Pavilion, 2nd floorNew Haven, CT 06504