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Erwin Brosens
Erwin Brosens
Scientist, Clinical Genetics & Ophthalmology, ErasmusMC-Sophia Rotterdam
Geverifieerd e-mailadres voor erasmusmc.nl
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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
1382013
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
1322014
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
1192017
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
P Szafranski, T Gambin, AV Dharmadhikari, KC Akdemir, SN Jhangiani, ...
Human genetics 135, 569-586, 2016
972016
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
922014
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
832016
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
802017
Recommendations for whole genome sequencing in diagnostics for rare diseases
E Souche, S Beltran, E Brosens, JW Belmont, M Fossum, O Riess, ...
European Journal of Human Genetics 30 (9), 1017-1021, 2022
642022
Genetics of enteric neuropathies
E Brosens, AJ Burns, AS Brooks, I Matera, S Borrego, I Ceccherini, ...
Developmental Biology 417 (2), 198-208, 2016
482016
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
392012
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
372013
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
342019
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
332016
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
302018
Genetics of ocular melanoma: insights into genetics, inheritance and testing
NM van Poppelen, DP de Bruyn, T Bicer, R Verdijk, N Naus, H Mensink, ...
International journal of molecular sciences 22 (1), 336, 2020
282020
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
262014
Whole exome sequencing of known eye genes reveals genetic causes for high myopia
AEG Haarman, AAHJ Thiadens, M Van Tienhoven, SE Loudon, ...
Human Molecular Genetics 31 (19), 3290-3298, 2022
202022
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development
LE Kuil, KC MacKenzie, CS Tang, JD Windster, TL Le, A Karim, ...
PLoS Genetics 17 (8), e1009698, 2021
202021
Molecular Genetics of Conjunctival Melanoma and Prognostic Value of TERT Promoter Mutation Analysis
NM van Poppelen, JA van Ipenburg, Q van den Bosch, J Vaarwater, ...
International Journal of Molecular Sciences 22 (11), 5784, 2021
192021
A genetics-first approach revealed monogenic disorders in patients with ARM and VACTERL anomalies
R Van de Putte, GC Dworschak, E Brosens, HM Reutter, CLM Marcelis, ...
Frontiers in pediatrics 8, 310, 2020
192020
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Artikelen 1–20