Erwin Brosens
Erwin Brosens
Scientist, Clinical Genetics & Ophthalmology, ErasmusMC-Sophia Rotterdam
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Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
P Saisawat, S Kohl, AC Hilger, DY Hwang, HY Gee, GC Dworschak, ...
Kidney international 85 (6), 1310-1317, 2014
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder
P Szafranski, AV Dharmadhikari, E Brosens, P Gurha, KE Kołodziejska, ...
Genome research 23 (1), 23-33, 2013
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice
D Halim, MP Wilson, D Oliver, E Brosens, JBGM Verheij, Y Han, V Nanda, ...
Proceedings of the National Academy of Sciences 114 (13), E2739-E2747, 2017
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
P Szafranski, T Gambin, AV Dharmadhikari, KC Akdemir, SN Jhangiani, ...
Human genetics 135 (5), 569-586, 2016
Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies
E Brosens, M Ploeg, Y van Bever, AE Koopmans, H IJsselstijn, RJ Rottier, ...
European journal of medical genetics 57 (8), 440-452, 2014
Loss-of-function variants in MYLK cause recessive megacystis microcolon intestinal hypoperistalsis syndrome
D Halim, E Brosens, F Muller, MF Wangler, AL Beaudet, JR Lupski, ...
The American Journal of Human Genetics 101 (1), 123-129, 2017
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy
R Almomani, JMA Verhagen, JC Herkert, E Brosens, ...
Journal of the American College of Cardiology 67 (5), 515-525, 2016
Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts
D Veenma, E Brosens, E De Jong, C Van De Ven, C Meeussen, ...
European Journal of Human Genetics 20 (3), 298-304, 2012
Genetics of enteric neuropathies
E Brosens, AJ Burns, AS Brooks, I Matera, S Borrego, I Ceccherini, ...
Developmental biology 417 (2), 198-208, 2016
VACTERL association etiology: the impact of de novo and rare copy number variations
E Brosens, H Eussen, Y van Bever, RM Van Der Helm, H Ijsselstijn, ...
Molecular syndromology 4 (1-2), 20-26, 2013
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula
E Brosens, F Marsch, EM de Jong, HP Zaveri, AC Hilger, VG Choinitzki, ...
European Journal of Human Genetics 24 (12), 1715-1723, 2016
Structural and numerical changes of chromosome X in patients with esophageal atresia
E Brosens, EM De Jong, TS Barakat, BH Eussen, B D'haene, E De Baere, ...
European Journal of Human Genetics 22 (9), 1077-1084, 2014
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association
A Hernández‐García, E Brosens, HP Zaveri, EM de Jong, Z Yu, ...
American Journal of Medical Genetics-Part A 158 (7), 1785, 2012
Increased incidence of hypertrophic pyloric stenosis in esophageal atresia patients
NWG van Beelen, DS Mous, E Brosens, A de Klein, CP van de Ven, J Vlot, ...
European Journal of Pediatric Surgery 24 (01), 020-024, 2014
Neuronal development and onset of electrical activity in the human enteric nervous system
CJ McCann, MM Alves, E Brosens, D Natarajan, S Perin, C Chapman, ...
Gastroenterology 156 (5), 1483-1495. e6, 2019
Identification of variants in RET and IHH pathway members in a large family with history of Hirschsprung disease
Y Sribudiani, RK Chauhan, MM Alves, L Petrova, E Brosens, C Harrison, ...
Gastroenterology 155 (1), 118-129. e6, 2018
SNPitty: an intuitive web application for interactive B-allele frequency and copy number visualization of next-generation sequencing data
J van Riet, NMG Krol, PN Atmodimedjo, E Brosens, WFJ van IJcken, ...
The Journal of Molecular Diagnostics 20 (2), 166-176, 2018
More than fetal urine: enteral uptake of amniotic fluid as a major predictor for fetal growth during late gestation
S Bagci, E Brosens, D Tibboel, A De Klein, H Ijsselstijn, CHW Wijers, ...
European journal of pediatrics 175 (6), 825-831, 2016
A combined literature and in silico analysis enlightens the role of the NDRG family in the gut
N Vaes, SL Schonkeren, E Brosens, A Koch, CJ McCann, N Thapar, ...
Biochimica et Biophysica Acta (BBA)-General Subjects 1862 (10), 2140-2151, 2018
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations
R van de Putte, CHW Wijers, H Reutter, SH Vermeulen, CLM Marcelis, ...
PloS one 14 (5), e0217477, 2019
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