Erwin Brosens

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WFJ van IJckenAssistant Professor, Erasmus MCVerified email at erasmusmc.nl
R.W.W. BrouwerErasmusMCVerified email at erasmusmc.nl
Merce Garcia-BarceloThe University of Hong KongVerified email at hku.hk
J.D.H. JongbloedPrincipal Investigator, clinical laboratoy geneticist, Department of Genetics, University Medical Center Groningen, University oVerified email at umcg.nl
Job van RietGerman Cancer Research Center (DKFZ)Verified email at dkfz-heidelberg.de
Harmen van de WerkenComputational Biology & Bioinformatics in Immunology and cancer (CBBI), Departments of ImmunologyVerified email at erasmusmc.nl
Paul van der ZwaagClinical Geneticist, University of Groningen, University Medical Center GroningenVerified email at umcg.nl
Iain ShepherdAssociate Professor of Biology, Emory UniversityVerified email at emory.edu
Johanna C. Herkert (Anne)Clinical Geneticist, PhD student University Medical Center Groningen, NetherlandsVerified email at umcg.nl
richard sinkeProfessor of Genome Analysis, dept. Genetics (MGE), University Medical Center GroningenVerified email at ziggo.nl
ROWIDA ALMOMANIAssistant Professor, Department of Medical Laboratory Sciences, Jordan University of Science and TechnologyVerified email at just.edu.jo
Michael F. WanglerBaylor College of MedicineVerified email at bcm.tmc.edu
Arthur BeaudetProfessor Baylor College of MedicineVerified email at bcm.edu
Rajendra Kumar Chauhan, Ph.D.Standard BioToolsVerified email at fluidigm.com
Isabella CeccheriniIstituto Giannina Gaslini, Genova, ItalyVerified email at unige.it
Stanislas LyonnetInstitut imagineVerified email at inserm.fr
James LupskiBaylor College of MedicineVerified email at bcm.edu
Yunia SribudianiDepartment Biomedical Sciences, Division of Biochemistry and Molecular Biology, Faculty of MedicineVerified email at unpad.ac.id
Ivo de BlaauwRadboudumc-Amalia Children's HospitalVerified email at radboudumc.nl
De Baere ElfrideProfessor, Center for Medical Genetics, Department of Biomolecular Medicine, Ghent UniversityVerified email at ugent.be

Erwin Brosens

Scientist, Clinical Genetics & Ophthalmology, ErasmusMC-Sophia Rotterdam

Verified email at erasmusmc.nl

Biomedical & Environmental Sciences


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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	139	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	139	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	137	2017
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	105	2016
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	96	2022
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	96	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	94	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	88	2017
Genetics of enteric neuropathies E Brosens, AJ Burns, AS Brooks, I Matera, S Borrego, I Ceccherini, ... Developmental Biology 417 (2), 198-208, 2016	52	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	39	2012
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	38	2020
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	38	2013
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	36	2019
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	34	2016
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	33	2018
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	27	2020
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	26	2014
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	25	2022
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	25	2021
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	20	2021

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