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Hilde Peeters
Hilde Peeters
Department of Human Genetics, KULeuven, University Hospitals Leuven
Verified email at uzleuven.be
Title
Cited by
Cited by
Year
Disruptive CHD8 mutations define a subtype of autism early in development
R Bernier, C Golzio, B Xiong, HA Stessman, BP Coe, O Penn, ...
Cell 158 (2), 263-276, 2014
8402014
Refining analyses of copy number variation identifies specific genes associated with developmental delay
BP Coe, K Witherspoon, JA Rosenfeld, BWM Van Bon, ...
Nature genetics 46 (10), 1063-1071, 2014
6922014
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
HAF Stessman, B Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ...
Nature genetics 49 (4), 515-526, 2017
5662017
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
C Rooryck, A Diaz-Font, DPS Osborn, E Chabchoub, ...
Nature genetics 43 (3), 197-203, 2011
2642011
Validation of a telephone zygosity questionnaire in twins of known zygosity
H Peeters, S Van Gestel, R Vlietinck, C Derom, R Derom
Behavior genetics 28 (3), 159-163, 1998
2301998
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
BWM van Bon, BP Coe, R Bernier, C Green, J Gerdts, K Witherspoon, ...
Molecular psychiatry 21 (1), 126-132, 2016
1952016
Human laterality disorders
H Peeters, K Devriendt
European journal of medical genetics 49 (5), 349-362, 2006
1872006
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
MR Geisheker, G Heymann, T Wang, BP Coe, TN Turner, HAF Stessman, ...
Nature neuroscience 20 (8), 1043, 2017
1842017
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders
Z Iqbal, G Vandeweyer, M van der Voet, AM Waryah, MY Zahoor, ...
Human molecular genetics 22 (10), 1960-1970, 2013
1832013
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
M Kvarnung, T Wang, K Hoekzema, D Vecchio, H Wu, A Sulovari, BP Coe, ...
European Society of Human Genetics, Date: 2020/06/06-2020/06/09, Location …, 2020
172*2020
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management
B Bayindir, L Dehaspe, N Brison, P Brady, S Ardui, M Kammoun, ...
European Journal of Human Genetics 23 (10), 1286-1293, 2015
1482015
PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse
H Peeters, P Debeer, A Bairoch, V Wilquet, C Huysmans, E Parthoens, ...
Human genetics 112 (5-6), 573-580, 2003
1482003
Insights into the genetic architecture of the human face
JD White, K Indencleef, S Naqvi, RJ Eller, J Roosenboom, MK Lee, J Li, ...
bioRxiv, 2020
1362020
Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects
J Breckpot, B Thienpont, H Peeters, T de Ravel, A Singer, M Rayyan, ...
The Journal of pediatrics 156 (5), 810-817. e4, 2010
1202010
Clinical implementation of NIPT–technical and biological challenges
P Brady, N Brison, K Van Den Bogaert, T de Ravel, H Peeters, ...
Clinical Genetics 89 (5), 523-530, 2016
1132016
Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing
N Brison, M Neofytou, L Dehaspe, B Bayindir, K Van Den Bogaert, ...
Prenatal diagnosis 38 (4), 258-266, 2018
952018
Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing
M Neofytou, N Brison, L Dehaspe, B Bayindir, K Van Den Bogaert, ...
Prenatal Diagnosis 38 (S1), 12-13, 2018
95*2018
Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator
A Lumaka, N Cosemans, A Lulebo Mampasi, G Mubungu, N Mvuama, ...
Clinical genetics 92 (2), 166-171, 2017
842017
Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator
A Lumaka Zola, N Cosemans, A Lulebo Mampasi, G Mubungu, T Lubala, ...
84*2016
CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype
LA Menke, MJ van Belzen, M Alders, F Cristofoli, DDD Study, N Ehmke, ...
American Journal of Medical Genetics Part A 170 (10), 2681-2693, 2016
762016
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