Martina Brueckner, M.D. - Publications

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

45 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
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  1
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  1
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  1
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  1
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  1
2014 Backenroth D, Homsy J, Murillo LR, Glessner J, Lin E, Brueckner M, Lifton R, Goldmuntz E, Chung WK, Shen Y. CANOES: detecting rare copy number variants from whole exome sequencing data. Nucleic Acids Research. 42: e97. PMID 24771342 DOI: 10.1093/Nar/Gku345  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
2007 Brueckner M. Heterotaxia, congenital heart disease, and primary ciliary dyskinesia. Circulation. 115: 2793-5. PMID 17548739 DOI: 10.1161/Circulationaha.107.699256  1
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  1
2006 Davis EE, Brueckner M, Katsanis N. The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle. Developmental Cell. 11: 9-19. PMID 16824949 DOI: 10.1016/J.Devcel.2006.06.009  1
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  1
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  1
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  1
2004 Brueckner M. What comes first: the structure or the egg? Ross Granville Harrison on the origin of embryonic polarity. Journal of Experimental Zoology. Part a, Comparative Experimental Biology. 301: 549-51. PMID 15229864 DOI: 10.1002/Jez.A.82  1
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  1
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  1
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  1
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  1
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  1
2000 Supp DM, Potter SS, Brueckner M. Molecular motors: the driving force behind mammalian left-right development. Trends in Cell Biology. 10: 41-5. PMID 10652513 DOI: 10.1016/S0962-8924(99)01701-8  1
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  1
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  1
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  1
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  1
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  1
1996 Bowers PN, Brueckner M, Yost HJ. Laterality disturbances Progress in Pediatric Cardiology. 6: 53-62. DOI: 10.1016/1058-9813(96)00171-3  1
1995 Rounds D, Brueckner M, Ward DC. Isolation of murine telomere-proximal sequences by affinity capture and PCR. Genomics. 29: 616-22. PMID 8575753 DOI: 10.1006/Geno.1995.9958  1
1993 Bulbul ZR, Rosenthal D, Brueckner M. Genetic aspects of heart disease in the newborn. Seminars in Perinatology. 17: 61-75. PMID 8327904  1
1993 Horwich A, Brueckner M. Left, right and without a cue. Nature Genetics. 5: 321-2. PMID 8298636 DOI: 10.1038/Ng1293-321  1
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  1
1993 Brueckner M. The genetics of congenital heart disease Current Opinion in Cardiology. 8: 91-97. DOI: 10.1097/00001573-199301000-00011  1
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  1
1992 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. 56: 671-4. PMID 1288934  1
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  1
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