Stefan Lelieveld
Stefan Lelieveld
Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University
Geverifieerd e-mailadres voor radboudumc.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
2382016
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
1252015
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
512017
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
CZ Seco, M Wesdorp, I Feenstra, R Pfundt, JY Hehir-Kwa, SH Lelieveld, ...
European Journal of Human Genetics 25 (3), 308-314, 2017
502017
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
492017
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
422017
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, 19531, 2016
352016
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
352015
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
342017
Novel bioinformatic developments for exome sequencing
SH Lelieveld, JA Veltman, C Gilissen
Human genetics 135 (6), 603-614, 2016
312016
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
232018
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), 1-12, 2017
232017
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
LS Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, H Venselaar, ...
Nature communications 9 (1), 1-12, 2018
182018
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
162018
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 (5), 389-400, 2018
112018
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), 1-15, 2019
102019
Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders
J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ...
Biorxiv, 797787, 2019
72019
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
72018
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), 131, 2016
72016
ConBind: motif-aware cross-species alignment for the identification of functional transcription factor binding sites
SH Lelieveld, J Schütte, MJJ Dijkstra, P Bawono, SJ Kinston, B Göttgens, ...
Nucleic acids research 44 (8), e72-e72, 2016
42016
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Artikelen 1–20