Martina Brueckner, M.D. - Publications

Affiliations: 
Pediatrics Yale University, New Haven, CT 
Area:
Left-right axis patterning, cardiac development

67 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 O'Brien MP, Pryzhkova MV, Lake EMR, Mandino F, Shen X, Karnik R, Atkins A, Xu MJ, Ji W, Konstantino M, Brueckner M, Ment LR, Khokha MK, Jordan PW. Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability. International Journal of Molecular Sciences. 25. PMID 38203602 DOI: 10.3390/ijms25010430  0.358
2023 Tambi R, Ashraf B, Nandkishore S, Sharafat S, Kader F, Nassir N, Mohamed N, Ahmed A, Abdel Hameid R, Alasrawi S, Brueckner M, Kuebler WM, Chung W, Alsheikh-Ali A, Di Donato RM, et al. Single-Cell Reconstruction and Mutation Enrichment Analysis Identifies Dysregulated Cardiomyocyte and Endothelial Cells in Congenital Heart Disease. Physiological Genomics. PMID 37811720 DOI: 10.1152/physiolgenomics.00070.2023  0.342
2023 Mishra-Gorur K, Barak T, Kaulen LD, Henegariu O, Jin SC, Aguilera SM, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, Rai DK, Viviano S, Prendergast A, ... ... Brueckner M, et al. Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease. Proceedings of the National Academy of Sciences of the United States of America. 120: e2214997120. PMID 37043537 DOI: 10.1073/pnas.2214997120  0.352
2023 Lewis MJ, Hsieh A, Qiao L, Tan R, Kazzi B, Channing A, Griffin E, Jobanputra V, Su J, Shahryar C, Kochilas L, Gaynor W, Lee T, Goldmuntz E, Russell M, ... ... Brueckner M, et al. Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease. Circulation. Genomic and Precision Medicine. e003900. PMID 36866680 DOI: 10.1161/CIRCGEN.122.003900  0.318
2023 Griffin EL, Nees SN, Morton SU, Wynn J, Patel N, Jobanputra V, Robinson S, Kochav SM, Tao A, Andrews C, Cross N, Geva J, Lanzilotta K, Ritter A, Taillie E, ... ... Brueckner M, et al. Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. Circulation. Genomic and Precision Medicine. e003791. PMID 36803080 DOI: 10.1161/CIRCGEN.122.003791  0.323
2022 Dong W, Kaymakcalan H, Jin SC, Diab NS, Tanıdır C, Yalcin ASY, Ercan-Sencicek AG, 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. e1944. PMID 35481623 DOI: 10.1002/mgg3.1944  0.331
2022 Li M, Zeng X, Jin C, Jin SC, Dong W, Brueckner M, Lifton R, Lu Q, Zhao H. Integrative modeling of transmitted and variants identifies novel risk genes for congenital heart disease. Quantitative Biology (Beijing, China). 9: 216-227. PMID 35414959 DOI: 10.15302/j-qb-021-0248  0.316
2021 Djenoune L, Berg K, Brueckner M, Yuan S. A change of heart: new roles for cilia in cardiac development and disease. Nature Reviews. Cardiology. PMID 34862511 DOI: 10.1038/s41569-021-00635-z  0.347
2021 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. 12. PMID 34209044 DOI: 10.3390/genes12071020  0.345
2020 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, ... ... Brueckner M, et al. De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease. Circulation. Genomic and Precision Medicine. 13: e002836. PMID 32812804 DOI: 10.1161/CIRCGEN.119.002836  0.696
2020 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, ... ... Brueckner M, et al. Genomic analyses implicate noncoding de novo variants in congenital heart disease. Nature Genetics. PMID 32601476 DOI: 10.1038/S41588-020-0652-Z  0.381
2020 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, ... ... Brueckner M, et al. Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. Jacc. Basic to Translational Science. 5: 376-386. PMID 32368696 DOI: 10.1016/J.Jacbts.2020.01.012  0.438
2020 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, ... ... Brueckner M, et al. EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. Genome Medicine. 12: 42. PMID 32349777 DOI: 10.1186/S13073-020-00738-1  0.433
2020 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. 10: 7046. PMID 32341405 DOI: 10.1038/S41598-020-63928-2  0.407
2019 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, et al. De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. Nature Communications. 10: 4722. PMID 31624253 DOI: 10.1038/S41467-019-12582-Y  0.42
2019 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. PMID 31235600 DOI: 10.1073/Pnas.1808341116  0.449
2018 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. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. Circulation. 138: e653-e711. PMID 30571578 DOI: 10.1161/Cir.0000000000000606  0.442
2018 Yuan S, Brueckner M. Left-Right Asymmetry: Myosin 1D at the Center. Current Biology : Cb. 28: R567-R569. PMID 29738734 DOI: 10.1016/J.Cub.2018.03.019  0.356
2018 Manheimer KB, Patel N, Richter F, Gorham J, Tai AC, Homsy J, Boskovski MT, Parfenov M, Goldmuntz E, Chung WK, Brueckner M, Tristani-Firouzi M, Srivastava D, Seidman JG, Seidman CE, et al. Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors. Human Mutation. PMID 29527824 DOI: 10.1002/Humu.23419  0.671
2018 Manheimer KB, Richter F, Edelmann LJ, D'Souza SL, Shi L, Shen Y, Homsy J, Boskovski MT, Tai AC, Gorham J, Yasso C, Goldmuntz E, Brueckner M, Lifton RP, Chung WK, et al. Robust identification of mosaic variants in congenital heart disease. Human Genetics. PMID 29417219 DOI: 10.1007/S00439-018-1871-6  0.704
2018 Hoang TT, Goldmuntz E, Roberts AE, Chung WK, Kline JK, Deanfield JE, Giardini A, Aleman A, Gelb BD, Mac Neal M, Porter GA, Kim R, Brueckner M, Lifton RP, Edman S, et al. The Congenital Heart Disease Genetic Network Study: Cohort description. Plos One. 13: e0191319. PMID 29351346 DOI: 10.1371/Journal.Pone.0191319  0.404
2017 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, ... ... Brueckner M, et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nature Genetics. PMID 28991257 DOI: 10.1038/Ng.3970  0.461
2017 Simmons MA, Brueckner M. The genetics of congenital heart disease… understanding and improving long-term outcomes in congenital heart disease: a review for the general cardiologist and primary care physician. Current Opinion in Pediatrics. 29: 520-528. PMID 28872494 DOI: 10.1097/Mop.0000000000000538  0.396
2017 Zaidi S, Brueckner M. Genetics and Genomics of Congenital Heart Disease. Circulation Research. 120: 923-940. PMID 28302740 DOI: 10.1161/Circresaha.116.309140  0.429
2016 McKean DM, Homsy J, Wakimoto H, Patel N, Gorham J, DePalma SR, Ware JS, Zaidi S, Ma W, Patel N, Lifton RP, Chung WK, Kim R, Shen Y, Brueckner M, et al. Loss of RNA expression and allele-specific expression associated with congenital heart disease. Nature Communications. 7: 12824. PMID 27670201 DOI: 10.1038/Ncomms12824  0.405
2016 Yuan S, Brueckner M. Visualization and Manipulation of Cilia and Intraciliary Calcium in the Zebrafish Left-Right Organizer. Methods in Molecular Biology (Clifton, N.J.). 1454: 123-47. PMID 27514920 DOI: 10.1007/978-1-4939-3789-9_9  0.336
2016 Dougherty GW, Loges NT, Klinkenbusch JA, Olbrich H, Pennekamp P, Menchen T, Raidt J, Wallmeier J, Werner C, Westermann C, Ruckert C, Mirra V, Hjeij R, Memari Y, Durbin R, ... ... Brueckner M, et al. DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes. American Journal of Respiratory Cell and Molecular Biology. PMID 26909801 DOI: 10.1165/Rcmb.2015-0353Oc  0.334
2015 Homsy 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, ... ... Brueckner M, et al. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science (New York, N.Y.). 350: 1262-6. PMID 26785492 DOI: 10.1126/Science.Aac9396  0.421
2015 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 (Cambridge, England). PMID 26493400 DOI: 10.1242/Jcs.184002  0.604
2015 Yuan S, Zhao L, Brueckner M, Sun Z. Intraciliary calcium oscillations initiate vertebrate left-right asymmetry. Current Biology : Cb. 25: 556-67. PMID 25660539 DOI: 10.1016/J.Cub.2014.12.051  0.378
2015 Homsy 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, ... ... Brueckner M, et al. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies Science. 350: 1262-1266. DOI: 10.1126/science.aac9396  0.315
2014 Glessner JT, Bick AG, Ito K, Homsy JG, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, ... ... Brueckner M, et al. Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circulation Research. 115: 884-96. PMID 25205790 DOI: 10.1161/Circresaha.115.304458  0.438
2013 Boskovski MT, Yuan S, Pedersen NB, Goth CK, Makova S, Clausen H, Brueckner M, Khokha MK. The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality. Nature. 504: 456-9. PMID 24226769 DOI: 10.1038/Nature12723  0.708
2013 Yuan S, Zaidi S, Brueckner M. Congenital heart disease: emerging themes linking genetics and development. Current Opinion in Genetics & Development. 23: 352-9. PMID 23790954 DOI: 10.1016/J.Gde.2013.05.004  0.466
2013 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, ... ... Brueckner M, et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 498: 220-3. PMID 23665959 DOI: 10.1038/Nature12141  0.408
2013 Gelb B, Brueckner M, Chung W, Goldmuntz E, Kaltman J, Kaski JP, Kim R, Kline J, Mercer-Rosa L, Porter G, Roberts A, Rosenberg E, Seiden H, Seidman C, et al. The Congenital Heart Disease Genetic Network Study: rationale, design, and early results. Circulation Research. 112: 698-706. PMID 23410879 DOI: 10.1161/Circresaha.111.300297  0.432
2012 Brueckner M. Impact of genetic diagnosis on clinical management of patients with congenital heart disease: cilia point the way. Circulation. 125: 2178-80. PMID 22499951 DOI: 10.1161/Circulationaha.112.103861  0.392
2012 Bisgrove BW, Makova S, Yost HJ, Brueckner M. RFX2 is essential in the ciliated organ of asymmetry and an RFX2 transgene identifies a population of ciliated cells sufficient for fluid flow. Developmental Biology. 363: 166-78. PMID 22233545 DOI: 10.1016/J.Ydbio.2011.12.030  0.406
2011 Fakhro KA, Choi M, Ware SM, Belmont JW, Towbin JA, Lifton RP, Khokha MK, Brueckner M. Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proceedings of the National Academy of Sciences of the United States of America. 108: 2915-20. PMID 21282601 DOI: 10.1073/Pnas.1019645108  0.418
2009 Basu B, Brueckner M. Fibroblast "cilia growth" factor in the development of left-right asymmetry. Developmental Cell. 16: 489-90. PMID 19386257 DOI: 10.1016/J.Devcel.2009.04.004  0.502
2008 Basu B, Brueckner M. Cilia multifunctional organelles at the center of vertebrate left-right asymmetry. Current Topics in Developmental Biology. 85: 151-74. PMID 19147005 DOI: 10.1016/S0070-2153(08)00806-5  0.554
2008 Slough J, Cooney L, Brueckner M. Monocilia in the embryonic mouse heart suggest a direct role for cilia in cardiac morphogenesis. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 237: 2304-14. PMID 18729223 DOI: 10.1002/Dvdy.21669  0.441
2008 Gathungu GN, Pashankar DS, Sarita-Reyes CD, Zambrano E, Reyes-Mugica M, Brueckner M, Mistry PK, Husain SZ. Microvillus inclusion disease associated with coarctation of the aorta and bicuspid aortic valve. Journal of Clinical Gastroenterology. 42: 400-3. PMID 18277898 DOI: 10.1097/01.Mcg.0000225632.07039.B6  0.368
2008 Brueckner M, McGrath J, Makova S. Cilia have multiple roles in the development of the vertebrate left-right axis Microscopy and Microanalysis. 14: 1480-1481. DOI: 10.1017/S1431927608085681  0.374
2008 Brueckner M, Slough J, Cooney L. Monocilia in the embryonic mouse heart imply a direct role for cilia in cardiac morphogenesis Developmental Biology. 319: 602. DOI: 10.1016/J.Ydbio.2008.05.436  0.399
2007 Brueckner M. Heterotaxia, congenital heart disease, and primary ciliary dyskinesia. Circulation. 115: 2793-5. PMID 17548739 DOI: 10.1161/Circulationaha.107.699256  0.478
2007 Tashjian DB, Weeks B, Brueckner M, Touloukian RJ. Outcomes after a Ladd procedure for intestinal malrotation with heterotaxia. Journal of Pediatric Surgery. 42: 528-31. PMID 17336193 DOI: 10.1016/J.Jpedsurg.2006.10.060  0.306
2005 McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, et al. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatric Research. 58: 981-6. PMID 16183809 DOI: 10.1203/01.Pdr.0000182593.95441.64  0.361
2005 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 (Cambridge, England). 132: 4407-17. PMID 16155214 DOI: 10.1242/Dev.02021  0.416
2004 Hallaq H, Pinter E, Enciso J, McGrath J, Zeiss C, Brueckner M, Madri J, Jacobs HC, Wilson CM, Vasavada H, Jiang X, Bogue CW. A null mutation of Hhex results in abnormal cardiac development, defective vasculogenesis and elevated Vegfa levels. Development (Cambridge, England). 131: 5197-209. PMID 15459110 DOI: 10.1242/Dev.01393  0.407
2003 McGrath J, Brueckner M. Cilia are at the heart of vertebrate left-right asymmetry. Current Opinion in Genetics & Development. 13: 385-92. PMID 12888012 DOI: 10.1016/S0959-437X(03)00091-1  0.452
2003 McGrath J, Somlo S, Makova S, Tian X, Brueckner M. Two populations of node monocilia initiate left-right asymmetry in the mouse. Cell. 114: 61-73. PMID 12859898 DOI: 10.1016/S0092-8674(03)00511-7  0.329
2002 Essner JJ, Vogan KJ, Wagner MK, Tabin CJ, Yost HJ, Brueckner M. Conserved function for embryonic nodal cilia. Nature. 418: 37-8. PMID 12097899 DOI: 10.1038/418037A  0.365
2001 Brueckner M. Cilia propel the embryo in the right direction. American Journal of Medical Genetics. 101: 339-44. PMID 11471157 DOI: 10.1002/1096-8628(20010715)101:4<339::Aid-Ajmg1442>3.0.Co;2-P  0.403
2000 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. 97: 258-70. PMID 11376437 DOI: 10.1002/1096-8628(200024)97:4<258::Aid-Ajmg1276>3.0.Co;2-8  0.427
1999 Supp DM, Brueckner M, Kuehn MR, Witte DP, Lowe LA, McGrath J, Corrales J, Potter SS. Targeted deletion of the ATP binding domain of left-right dynein confirms its role in specifying development of left-right asymmetries. Development (Cambridge, England). 126: 5495-504. PMID 10556073  0.315
1999 Pehlivan T, Pober BR, Brueckner M, Garrett S, Slaugh R, Van Rheeden R, Wilson DB, Watson MS, Hing AV. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. American Journal of Medical Genetics. 83: 201-6. PMID 10096597 DOI: 10.1002/(Sici)1096-8628(19990319)83:3<201::Aid-Ajmg11>3.0.Co;2-V  0.424
1998 Supp DM, Brueckner M, Potter SS. Handed asymmetry in the mouse: understanding how things go right (or left) by studying how they go wrong. Seminars in Cell & Developmental Biology. 9: 77-87. PMID 9572117 DOI: 10.1006/Scdb.1997.0186  0.424
1997 Supp DM, Witte DP, Potter SS, Brueckner M. Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice. Nature. 389: 963-6. PMID 9353118 DOI: 10.1038/40140  0.42
1996 Bowers PN, Brueckner M, Yost HJ. The genetics of left-right development and heterotaxia. Seminars in Perinatology. 20: 577-88. PMID 9090782 DOI: 10.1016/S0146-0005(96)80070-X  0.497
1996 Bowers PN, Yoon J, Horwich AL, Brueckner M. ANALYSIS OF A CANDIDATE MOUSE IV (INVERSUS VISCERUM) GENE. • 123 Pediatric Research. 39: 23-23. DOI: 10.1203/00006450-199604001-00142  0.39
1993 Horwich A, Brueckner M. Left, right and without a cue. Nature Genetics. 5: 321-2. PMID 8298636 DOI: 10.1038/Ng1293-321  0.305
1993 Chang J, Brueckner M, Touloukian RJ. Intestinal rotation and fixation abnormalities in heterotaxia: early detection and management. Journal of Pediatric Surgery. 28: 1281-4; discussion 1. PMID 8263687 DOI: 10.1016/S0022-3468(05)80313-6  0.316
1993 Brueckner M. The genetics of congenital heart disease Current Opinion in Cardiology. 8: 91-97. DOI: 10.1097/00001573-199301000-00011  0.411
1992 McGrath J, Horwich AL, Brueckner M. Duplication/deficiency mapping of situs inversus viscerum (iv), a gene that determines left-right asymmetry in the mouse. Genomics. 14: 643-8. PMID 1427890 DOI: 10.1016/S0888-7543(05)80163-6  0.306
1991 Brueckner M, McGrath J, D'Eustachio P, Horwich AL. Establishment of left-right asymmetry in vertebrates: genetically distinct steps are involved. Ciba Foundation Symposium. 162: 202-12; discussion 2. PMID 1802643  0.353
1989 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. 86: 5035-8. PMID 2740340 DOI: 10.1016/0168-9525(89)90134-0  0.359
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