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Erwin Brosens
Researcher at Erasmus University Rotterdam
Publications - 62
Citations - 1014
Erwin Brosens is an academic researcher from Erasmus University Rotterdam. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 14, co-authored 44 publications receiving 723 citations. Previous affiliations of Erwin Brosens include Erasmus University Medical Center & Boston Children's Hospital.
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Journal ArticleDOI
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder
Przemyslaw Szafranski,Avinash V. Dharmadhikari,Erwin Brosens,Priyatansh Gurha,Priyatansh Gurha,Katarzyna E. Kolodziejska,Ou Zhishuo,Piotr Dittwald,Piotr Dittwald,Tadeusz Majewski,K. Naga Mohan,K. Naga Mohan,Bo Chen,Richard E. Person,Dick Tibboel,Annelies de Klein,Jason Pinner,Maya Chopra,Girvan Malcolm,Gregory Peters,Susan Arbuckle,Sixto F. Guiang,Virginia A. Hustead,Jose Jessurun,Russel Hirsch,David P. Witte,Isabelle Maystadt,Neil J. Sebire,Richard B. Fisher,Claire Langston,Partha Sen,Pawel Stankiewicz +31 more
TL;DR: It is suggested that lung-transcribed 16q24.1 lncRNAs may contribute to long-range regulation of FOXF1 by GLI2 and other transcription factors and perturbation of lncRNA-mediated chromatin interactions may be responsible for position effect phenomena and potentially cause many disorders of human development.
Journal ArticleDOI
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
Pawaree Saisawat,Stefan Kohl,Alina C. Hilger,Alina C. Hilger,Daw Yang Hwang,Heon Yung Gee,Gabriel C. Dworschak,Gabriel C. Dworschak,Velibor Tasic,Tracie Pennimpede,Sivakumar Natarajan,Ethan D. Sperry,Danilo Swann Matassa,Natasa Stajic,Radovan Bogdanovic,Ivo de Blaauw,Carlo Marcelis,Charlotte H. W. Wijers,Enrika Bartels,Eberhard Schmiedeke,Dominik Schmidt,Dominik Schmidt,Stefanie Märzheuser,Sabine Grasshoff-Derr,Stefan Holland-Cunz,Michael Ludwig,Markus M. Nöthen,Markus Draaken,Erwin Brosens,Hugo A. Heij,Dick Tibboel,Bernhard G. Herrmann,Benjamin D. Solomon,Annelies de Klein,Iris A.L.M. van Rooij,Franca Esposito,Heiko Reutter,Heiko Reutter,Friedhelm Hildebrandt,Friedhelm Hildebrandt +39 more
TL;DR: In this article, the TNF receptor-associated protein 1 (TRAP1) was identified as highly likely causing CAKUT or VACTERL association in two families.
Journal ArticleDOI
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice
Danny Halim,Michael P. Wilson,Michael P. Wilson,Daniel Oliver,Erwin Brosens,Joke B. G. M. Verheij,Yu Han,Yu Han,Vivek Nanda,Vivek Nanda,Qing Lyu,Qing Lyu,Michael Doukas,Hans J. Stoop,Rutger W W Brouwer,Wilfred F. J. van IJcken,Orazio J. Slivano,Orazio J. Slivano,Alan J. Burns,Christine K. Christie,Christine K. Christie,Karen L. de Mesy Bentley,Karen L. de Mesy Bentley,Karen L. de Mesy Bentley,Alice S. Brooks,Dick Tibboel,Suowen Xu,Suowen Xu,Zheng Gen Jin,Zheng Gen Jin,Tono Djuwantono,Wei Yan,Maria M. Alves,Robert M.W. Hofstra,Joseph M. Miano,Joseph M. Miano +35 more
TL;DR: LMOD1 is defined as a disease gene for MMIHS and its role in establishing normal smooth muscle cytoskeletal–contractile coupling is suggested and conserved function of LMOD1 in human and mice is demonstrated.
Journal ArticleDOI
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
Przemyslaw Szafranski,Tomasz Gambin,Avinash V. Dharmadhikari,Kadir C. Akdemir,Shalini N. Jhangiani,Jennifer Schuette,Nihal Godiwala,Svetlana A. Yatsenko,Jessica Sebastian,Suneeta Madan-Khetarpal,Urvashi Surti,Rosanna G. Abellar,David A. Bateman,Ashley Wilson,Melinda H. Markham,Jill Slamon,Fernando Santos-Simarro,María Palomares,Julián Nevado,Pablo Lapunzina,Brian H.Y. Chung,Wai Lap Wong,Yoyo W. Y. Chu,Gary Tsz Kin Mok,Eitan Kerem,Joel Reiter,Namasivayam Ambalavanan,Scott A. Anderson,David R. Kelly,Joseph T. Shieh,Taryn C. Rosenthal,Kristin Scheible,Laurie A. Steiner,M. Anwar Iqbal,Margaret L. McKinnon,Sara Jane Hamilton,Kamilla Schlade-Bartusiak,Dawn English,Glenda Hendson,Elizabeth Roeder,Thomas S. DeNapoli,Rebecca O. Littlejohn,Daynna J. Wolff,Carol L. Wagner,Alison Yeung,David Francis,Elizabeth K. Fiorino,Morris Edelman,Joyce E. Fox,Denise A. Hayes,Sandra Janssens,Elfride De Baere,Björn Menten,Anne Loccufier,Lieve Vanwalleghem,Philippe Moerman,Yves Sznajer,Amy S. Lay,Jennifer Kussmann,Jasneek Chawla,Jasneek Chawla,Diane J. Payton,Gael E. Phillips,Erwin Brosens,Dick Tibboel,Annelies de Klein,Isabelle Maystadt,Richard Fisher,Neil J. Sebire,Alison Male,Maya Chopra,Jason Pinner,Girvan Malcolm,Gregory Peters,Susan Arbuckle,Melissa Lees,Zoe Mead,Oliver Quarrell,Richard Sayers,Martina Owens,Charles Shaw-Smith,Janet Lioy,Eileen McKay,Nicole de Leeuw,Ilse Feenstra,Liesbeth Spruijt,Frances Elmslie,Timothy Thiruchelvam,Carlos A. Bacino,Claire Langston,James R. Lupski,Partha Sen,Edwina J. Popek,Pawel Stankiewicz +93 more
TL;DR: It is demonstrated that genomic imprinting at 16q24.1 plays an important role in variable ACDMPV manifestation likely through long-range regulation of FOXF1 expression, and may be also responsible for key phenotypic features of maternal uniparental disomy 16.
Journal ArticleDOI
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.
Rowida Almomani,Judith M.A. Verhagen,Johanna C. Herkert,Erwin Brosens,Karin Y. van Spaendonck-Zwarts,Angeliki Asimaki,Paul A. van der Zwaag,Ingrid M.E. Frohn-Mulder,Aida M. Bertoli-Avella,Ludolf G. Boven,Marjon van Slegtenhorst,Jasper J. van der Smagt,Wilfred F. J. van IJcken,Bert Timmer,Margriet van Stuijvenberg,Robert M. Verdijk,Jeffrey E. Saffitz,Frederik A. du Plessis,Michelle Michels,Robert M.W. Hofstra,Richard J. Sinke,J. Peter van Tintelen,Marja W. Wessels,Jan D. H. Jongbloed,Ingrid M.B.H. van de Laar +24 more
TL;DR: Biallelic truncating mutations in the newly identified gene ALPK3 give rise to severe, early-onset cardiomyopathy in humans, highlighting the importance of transcription factor pathways in the molecular mechanisms underlying humanCardiomyopathies.