Raphael Bernier
Raphael Bernier
Geverifieerd e-mailadres voor u.washington.edu
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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
BJ O’Roak, L Vives, S Girirajan, E Karakoc, N Krumm, BP Coe, R Levy, ...
Nature 485 (7397), 246-250, 2012
19152012
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
JT Glessner, K Wang, G Cai, O Korvatska, CE Kim, S Wood, H Zhang, ...
Nature 459 (7246), 569-573, 2009
13632009
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
BJ O'Roak, P Deriziotis, C Lee, L Vives, JJ Schwartz, S Girirajan, ...
Nature genetics 43 (6), 585, 2011
12162011
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
BJ O'Roak, P Deriziotis, C Lee, L Vives, JJ Schwartz, S Girirajan, ...
Nature genetics 43 (6), 585, 2011
12162011
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
BJ O’Roak, L Vives, W Fu, JD Egertson, IB Stanaway, IG Phelps, G Carvill, ...
Science 338 (6114), 1619-1622, 2012
10472012
Common genetic variants on 5p14. 1 associate with autism spectrum disorders
K Wang, H Zhang, D Ma, M Bucan, JT Glessner, BS Abrahams, ...
Nature 459 (7246), 528-533, 2009
9722009
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
D Pinto, E Delaby, D Merico, M Barbosa, A Merikangas, L Klei, ...
The American Journal of Human Genetics 94 (5), 677-694, 2014
7252014
Autism spectrum disorders
NO FEE
Seoul: Sigmapress, 2005
6122005
A multisite study of the clinical diagnosis of different autism spectrum disorders
C Lord, E Petkova, V Hus, W Gan, F Lu, DM Martin, O Ousley, L Guy, ...
Archives of general psychiatry 69 (3), 306-313, 2012
5302012
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
5142014
Children referred for possible sexual abuse: medical findings in 2384 children
A Heger, L Ticson, O Velasquez, R Bernier
Child abuse & neglect 26 (6-7), 645-659, 2002
4592002
Excess of rare, inherited truncating mutations in autism
N Krumm, TN Turner, C Baker, L Vives, K Mohajeri, K Witherspoon, ...
Nature genetics 47 (6), 582-588, 2015
3702015
EEG mu rhythm and imitation impairments in individuals with autism spectrum disorder
R Bernier, G Dawson, S Webb, M Murias
Brain and cognition 64 (3), 228-237, 2007
3682007
An autosomal genomic screen for autism
S Barrett, JC Beck, R Bernier, E Bisson, TA Braun, TL Casavant, ...
American Journal of Medical Genetics-Neuropsychiatric Genetics 88 (6), 609-615, 1999
3461999
Relative burden of large CNVs on a range of neurodevelopmental phenotypes
S Girirajan, Z Brkanac, BP Coe, C Baker, L Vives, TH Vu, N Shafer, ...
PLoS Genet 7 (11), e1002334, 2011
2742011
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder
S Girirajan, MY Dennis, C Baker, M Malig, BP Coe, CD Campbell, K Mark, ...
The American Journal of Human Genetics 92 (2), 221-237, 2013
2552013
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
2512017
Recurrent de novo mutations implicate novel genes underlying simplex autism risk
BJ O'roak, HA Stessman, EA Boyle, KT Witherspoon, B Martin, C Lee, ...
Nature communications 5 (1), 1-6, 2014
2412014
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
DJ Weiner, EM Wigdor, S Ripke, RK Walters, JA Kosmicki, J Grove, ...
Nature genetics 49 (7), 978-985, 2017
2382017
A 600 kb deletion syndrome at 16p11. 2 leads to energy imbalance and neuropsychiatric disorders
F Zufferey, EH Sherr, ND Beckmann, E Hanson, AM Maillard, L Hippolyte, ...
Journal of medical genetics 49 (10), 660-668, 2012
2272012
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Artikelen 1–20