Stefan Lelieveld

Stefan Lelieveld

Princess Maxima Centre for Pediatric Oncology - / Netherlands
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 4982819
Prinses Maxima Centrum voor Kinderoncologie
person_outline Stefan Lelieveld's MOST POPULAR ARTICLES
1-) Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability SH Lelieveld, MRF Reijnders, R Pfundt, HG Yntema, EJ Kamsteeg, ... Nature neuroscience 19 (9), 1194-1196, 2016 3912016
2-) Evidence for 28 genetic disorders discovered by combining healthcare and research data J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ... Nature 586 (7831), 757-762, 2020 284*2020
3-) Comparison of exome and genome sequencing technologies for the complete capture of protein‐coding regions SH Lelieveld, M Spielmann, S Mundlos, JA Veltman, C Gilissen Human mutation 36 (8), 815-822, 2015 1772015
4-) YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunctionM Gabriele, AT Vulto-van Silfhout, PL Germain, A Vitriolo, R Kumar, ...The American Journal of Human Genetics 100 (6), 907-925, 20171442017
5-) Diagnostic exome sequencing in 266 Dutch patients with visual impairmentL Haer-Wigman, WAG van Zelst-Stams, R Pfundt, LI Van Den Born, ...European Journal of Human Genetics 25 (5), 591-599, 20171362017