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Brueckner, Martina
Journal title:American Men & Women of Science : A Biographical Directory of Today’s Leaders in Physical, Biological and Related Sciences: BAY-BUP, 2022, p.1457-1457
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Brueckner, Martina
Journal title:American Men & Women of Science : A Biographical Directory of Today’s Leaders in Physical, Biological and Related Sciences: BEA-BUD, 2021, p.1449-1449
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ArticlesPeer ReviewedFull Text
A change of heart: new roles for cilia in cardiac development and disease
Author / Creator:Djenoune, Lydia ; Berg, Kathryn ; Brueckner, Martina ; Yuan, Shiaulou
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews cardiology, 2022-04, Vol.19 (4), p.211-227
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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Author / Creator:Jin, Sheng Chih ; Homsy, Jason ; Zaidi, Samir ; Lu, Qiongshi ; Morton, Sarah ; DePalma, Steven R ; Zeng, Xue ; Qi, Hongjian ; Chang, Weni ; Sierant, Michael C ; Hung, Wei-Chien ; Haider, Shozeb ; Zhang, Junhui ; Knight, James ; Bjornson, Robert D ; Castaldi, Christopher ; Tikhonoa, Irina R ; Bilguvar, Kaya ; Mane, Shrikant M ; Sanders, Stephan J ; Mital, Seema ; Russell, Mark W ; Gaynor, J William ; Deanfield, John ; Giardini, Alessandro ; Porter, George A ; Srivastava, Deepak ; Lo, Cecelia W ; Shen, Yufeng ; Watkins, W Scott ; Yandell, Mark ; Yost, H Joseph ; Tristani-Firouzi, Martin ; Newburger, Jane W ; Roberts, Amy E ; Kim, Richard ; Zhao, Hongyu ; Kaltman, Jonathan R ; Goldmuntz, Elizabeth ; Chung, Wendy K ; Seidman, Jonathan G ; Gelb, Bruce D ; Seidman, Christine E ; Lifton, Richard P ; Brueckner, Martina
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2017-11, Vol.49 (11), p.1593-1601
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Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse
Author / Creator:Li, Yuanyuan ; Xu, Wenyan ; Makova, Svetlana ; Brueckner, Martina ; Sun, Zhaoxia
Publisher:England: eLife Sciences Publications Ltd
Journal title:eLife, 2023-03, Vol.12
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De novo damaging variants associated with congenital heart diseases contribute to the connectome
Author / Creator:Ji, Weizhen ; Ferdman, Dina ; Copel, Joshua ; Scheinost, Dustin ; Shabanova, Veronika ; Brueckner, Martina ; Khokha, Mustafa K. ; Ment, Laura R.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2020-04, Vol.10 (1), p.7046-7046, Article 7046
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Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
Author / Creator:Fakhro, Khalid A. ; Choi, Murim ; Ware, Stephanie M. ; Belmont, John W. ; Towbin, Jeffrey A. ; Lifton, Richard P. ; Khokha, Mustafa K. ; Brueckner, Martina
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2011-02, Vol.108 (7), p.2915-2920
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De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
Author / Creator:Watkins, W. Scott ; Hernandez, E. Javier ; Wesolowski, Sergiusz ; Bisgrove, Brent W. ; Sunderland, Ryan T. ; Lin, Edwin ; Lemmon, Gordon ; Demarest, Bradley L. ; Miller, Thomas A. ; Bernstein, Daniel ; Brueckner, Martina ; Chung, Wendy K. ; Gelb, Bruce D. ; Goldmuntz, Elizabeth ; Newburger, Jane W. ; Seidman, Christine E. ; Shen, Yufeng ; Yost, H. Joseph ; Yandell, Mark ; Tristani-Firouzi, Martin
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-10, Vol.10 (1), p.4722-12, Article 4722
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Quantifying concordant genetic effects of de novo mutations on multiple disorders
Author / Creator:Guo, Hanmin ; Hou, Lin ; Shi, Yu ; Jin, Sheng Chih ; Zeng, Xue ; Li, Boyang ; Lifton, Richard P ; Brueckner, Martina ; Zhao, Hongyu ; Lu, Qiongshi
Publisher:England: eLife Sciences Publications Ltd
Journal title:eLife, 2022-06, Vol.11
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DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes
Author / Creator:Dougherty, Gerard W. ; Loges, Niki T. ; Klinkenbusch, Judith A. ; Olbrich, Heike ; Pennekamp, Petra ; Menchen, Tabea ; Raidt, Johanna ; Wallmeier, Julia ; Werner, Claudius ; Westermann, Cordula ; Ruckert, Christian ; Mirra, Virginia ; Hjeij, Rim ; Memari, Yasin ; Durbin, Richard ; Kolb-Kokocinski, Anja ; Praveen, Kavita ; Kashef, Mohammad A. ; Kashef, Sara ; Eghtedari, Fardin ; Häffner, Karsten ; Valmari, Pekka ; Baktai, György ; Aviram, Micha ; Bentur, Lea ; Amirav, Israel ; Davis, Erica E. ; Katsanis, Nicholas ; Brueckner, Martina ; Shaposhnykov, Artem ; Pigino, Gaia ; Dworniczak, Bernd ; Omran, Heymut
Publisher:United States: American Thoracic Society
Journal title:American journal of respiratory cell and molecular biology, 2016-08, Vol.55 (2), p.213-224
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The Congenital Heart Disease Genetic Network Study: Cohort description
Author / Creator:Hoang, Thanh T. ; Goldmuntz, Elizabeth ; Roberts, Amy E. ; Chung, Wendy K. ; Kline, Jennie K. ; Deanfield, John E. ; Giardini, Alessandro ; Aleman, Adolfo ; Gelb, Bruce D. ; Mac Neal, Meghan ; Porter, George A. ; Kim, Richard ; Brueckner, Martina ; Lifton, Richard P. ; Edman, Sharon ; Woyciechowski, Stacy ; Mitchell, Laura E. ; Agopian, A. J.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-01, Vol.13 (1), p.e0191319
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Regional mosaic genomic heterogeneity in the elderly and in Alzheimer’s disease as a correlate of neuronal vulnerability
Author / Creator:Arendt, Thomas ; Brückner, Martina K. ; Lösche, Andreas
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2015-10, Vol.130 (4), p.501-510
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Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease
Author / Creator:Xie, Yuhan ; Jiang, Wei ; Dong, Weilai ; Li, Hongyu ; Jin, Sheng Chih ; Brueckner, Martina ; Zhao, Hongyu
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2022-06, Vol.18 (6), p.e1010252-e1010252
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Robust identification of mosaic variants in congenital heart disease
Author / Creator:Manheimer, Kathryn B. ; Richter, Felix ; Edelmann, Lisa J. ; D’Souza, Sunita L. ; Shi, Lisong ; Shen, Yufeng ; Homsy, Jason ; Boskovski, Marko T. ; Tai, Angela C. ; Gorham, Joshua ; Yasso, Christopher ; Goldmuntz, Elizabeth ; Brueckner, Martina ; Lifton, Richard P. ; Chung, Wendy K. ; Seidman, Christine E. ; Seidman, J. G. ; Gelb, Bruce D.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2018-02, Vol.137 (2), p.183-193
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Loss of RNA expression and allele-specific expression associated with congenital heart disease
Author / Creator:McKean, David M. ; Homsy, Jason ; Wakimoto, Hiroko ; Patel, Neil ; Gorham, Joshua ; DePalma, Steven R. ; Ware, James S. ; Zaidi, Samir ; Ma, Wenji ; Patel, Nihir ; Lifton, Richard P. ; Chung, Wendy K. ; Kim, Richard ; Shen, Yufeng ; Brueckner, Martina ; Goldmuntz, Elizabeth ; Sharp, Andrew J. ; Seidman, Christine E. ; Gelb, Bruce D. ; Seidman, J. G.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2016-09, Vol.7 (1), p.12824-12824, Article 12824
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EM-mosaic detects mosaic point mutations that contribute to congenital heart disease
Author / Creator:Hsieh, Alexander ; Morton, Sarah U. ; Willcox, Jon A. L. ; Gorham, Joshua M. ; Tai, Angela C. ; Qi, Hongjian ; DePalma, Steven ; McKean, David ; Griffin, Emily ; Manheimer, Kathryn B. ; Bernstein, Daniel ; Kim, Richard W. ; Newburger, Jane W. ; Porter, George A. ; Srivastava, Deepak ; Tristani-Firouzi, Martin ; Brueckner, Martina ; Lifton, Richard P. ; Goldmuntz, Elizabeth ; Gelb, Bruce D. ; Chung, Wendy K. ; Seidman, Christine E. ; Seidman, J. G. ; Shen, Yufeng
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2020-04, Vol.12 (1), p.42-42, Article 42
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Conserved function for embryonic nodal cilia
Author / Creator:Essner, Jeffrey J. ; Vogan, Kyle J. ; Wagner, Molly K. ; Tabin, Clifford J. ; Yost, H. Joseph ; Brueckner, Martina
Publisher:England
Journal title:Nature (London), 2002-07, Vol.418 (6893), p.37-38
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Association of genetic and sulcal traits with executive function in congenital heart disease
Author / Creator:Maleyeff, Lara ; Newburger, Jane W. ; Wypij, David ; Thomas, Nina H. ; Anagnoustou, Evdokia ; Brueckner, Martina ; Chung, Wendy K. ; Cleveland, John ; Cunningham, Sean ; Gelb, Bruce D. ; Goldmuntz, Elizabeth ; Hagler, Donald J ; Huang, Hao ; King, Eileen ; McQuillen, Patrick ; Miller, Thomas A. ; Norris‐Brilliant, Ami ; Porter, George A. ; Roberts, Amy E. ; Grant, P. Ellen ; Im, Kiho ; Morton, Sarah U.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2024-02, Vol.11 (2), p.278-290
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Mutation spectrum of congenital heart disease in a consanguineous Turkish population
Author / Creator:Dong, Weilai ; Kaymakcalan, Hande ; Jin, Sheng Chih ; Diab, Nicholas S. ; Tanıdır, Cansaran ; Yalcin, Ali Seyfi Yalim ; Ercan‐Sencicek, A. Gulhan ; Mane, Shrikant ; Gunel, Murat ; Lifton, Richard P. ; Bilguvar, Kaya ; Brueckner, Martina
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2022-06, Vol.10 (6), p.e1944-n/a
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Mutation of an axonemal dynein affects left–right asymmetry in inversus viscerum mice
Author / Creator:Supp, Dorothy M. ; Witte, David P. ; Potter, S. Steven ; Brueckner, Martina
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 1997-10, Vol.389 (6654), p.963-966
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Brueckner, Martina

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Brueckner, Martina

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A change of heart: new roles for cilia in cardiac development and disease

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

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Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse

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De novo damaging variants associated with congenital heart diseases contribute to the connectome

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Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

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De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

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Quantifying concordant genetic effects of de novo mutations on multiple disorders

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DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes

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The Congenital Heart Disease Genetic Network Study: Cohort description

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Regional mosaic genomic heterogeneity in the elderly and in Alzheimer’s disease as a correlate of neuronal vulnerability

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Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease

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Robust identification of mosaic variants in congenital heart disease

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Loss of RNA expression and allele-specific expression associated with congenital heart disease

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EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

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Conserved function for embryonic nodal cilia

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Association of genetic and sulcal traits with executive function in congenital heart disease

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Mutation spectrum of congenital heart disease in a consanguineous Turkish population

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Mutation of an axonemal dynein affects left–right asymmetry in inversus viscerum mice

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