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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 | 692 | 2014 |
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 | 566 | 2017 |
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 | 264 | 2011 |
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 | 230 | 1998 |
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 | 195 | 2016 |
Human laterality disorders H Peeters, K Devriendt European journal of medical genetics 49 (5), 349-362, 2006 | 187 | 2006 |
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 | 184 | 2017 |
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 | 183 | 2013 |
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 | 148 | 2015 |
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 | 148 | 2003 |
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 | 136 | 2020 |
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 | 120 | 2010 |
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 | 113 | 2016 |
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 | 95 | 2018 |
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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 | 84 | 2017 |
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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 | 76 | 2016 |