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Stefan Lelieveld
Stefan Lelieveld
Princess Máxima Center for Pediatric Oncology
Geverifieerd e-mailadres voor prinsesmaximacentrum.nl
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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
4612016
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
404*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
2042015
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
1312017
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
1282017
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
1102017
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
1032017
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
952018
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
732015
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
702018
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
632017
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
622019
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
602017
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
592018
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
592016
Novel bioinformatic developments for exome sequencing
SH Lelieveld, JA Veltman, C Gilissen
Human genetics 135, 603-614, 2016
522016
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
472020
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
392018
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
352018
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
282016
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Artikelen 1–20