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 | 473 | 2016 |
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 | 422* | 2020 |
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 | 206 | 2015 |
YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction M Gabriele, AT Vulto-van Silfhout, PL Germain, A Vitriolo, R Kumar, ... The American Journal of Human Genetics 100 (6), 907-925, 2017 | 137 | 2017 |
Diagnostic exome sequencing in 266 Dutch patients with visual impairment L Haer-Wigman, WAG van Zelst-Stams, R Pfundt, LI Van Den Born, ... European Journal of Human Genetics 25 (5), 591-599, 2017 | 129 | 2017 |
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands C Zazo Seco, M Wesdorp, I Feenstra, R Pfundt, JY Hehir-Kwa, ... European Journal of Human Genetics 25 (3), 308-314, 2017 | 110 | 2017 |
Spatial clustering of de novo missense mutations identifies candidate neurodevelopmental disorder-associated genes SH Lelieveld, L Wiel, H Venselaar, R Pfundt, G Vriend, JA Veltman, ... The American Journal of Human Genetics 101 (3), 478-484, 2017 | 103 | 2017 |
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language L Snijders Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, ... Nature communications 9 (1), 4619, 2018 | 97 | 2018 |
Allelic mutations of KITLG, encoding KIT ligand, cause asymmetric and unilateral hearing loss and Waardenburg syndrome type 2 CZ Seco, LS de Castro, JW Van Nierop, M Morín, S Jhangiani, EJJ Verver, ... The American Journal of Human Genetics 97 (5), 647-660, 2015 | 73 | 2015 |
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease G Nicolas, R Acuña‐Hidalgo, MJ Keogh, O Quenez, M Steehouwer, ... Alzheimer's & Dementia 14 (12), 1632-1639, 2018 | 71 | 2018 |
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies P Arts, A Simons, MS AlZahrani, E Yilmaz, E AlIdrissi, KJ Van Aerde, ... Genome Medicine 11, 1-15, 2019 | 65 | 2019 |
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability MRF Reijnders, M Kousi, GM Van Woerden, M Klein, J Bralten, ... Nature communications 8 (1), 1052, 2017 | 65 | 2017 |
BRCA testing by single-molecule molecular inversion probes K Neveling, AR Mensenkamp, R Derks, M Kwint, H Ouchene, ... Clinical chemistry 63 (2), 503-512, 2017 | 62 | 2017 |
A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis HE Olson, N Jean-Marçais, E Yang, D Heron, K Tatton-Brown, ... The American Journal of Human Genetics 102 (5), 995-1007, 2018 | 61 | 2018 |
Panel-based NGS reveals novel pathogenic mutations in autosomal recessive retinitis pigmentosa R Perez-Carro, M Corton, I Sánchez-Navarro, O Zurita, N Sanchez-Bolivar, ... Scientific reports 6 (1), 19531, 2016 | 59 | 2016 |
Novel bioinformatic developments for exome sequencing SH Lelieveld, JA Veltman, C Gilissen Human genetics 135, 603-614, 2016 | 52 | 2016 |
Rare genetic variants in interleukin-37 link this anti-inflammatory cytokine to the pathogenesis and treatment of gout V Klück, RC van Deuren, G Cavalli, A Shaukat, P Arts, MC Cleophas, ... Annals of the rheumatic diseases 79 (4), 536-544, 2020 | 49 | 2020 |
MPZL2, encoding the epithelial junctional protein myelin protein zero-like 2, is essential for hearing in man and mouse M Wesdorp, S Murillo-Cuesta, T Peters, AM Celaya, A Oonk, M Schraders, ... The American Journal of Human Genetics 103 (1), 74-88, 2018 | 39 | 2018 |
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction M Wesdorp, PAM de Koning Gans, M Schraders, J Oostrik, MA Huynen, ... Human genetics 137, 389-400, 2018 | 35 | 2018 |
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms SJC Stevens, AJ van Essen, CMA van Ravenswaaij, AF Elias, JA Haven, ... Genome medicine 8, 1-10, 2016 | 28 | 2016 |