Prati
Bridget Fernandez
Bridget Fernandez
Professor of Clinical Pediatrics, Keck School of Medicine, University of Southern California
Potvrđena adresa e-pošte na chla.usc.edu
Naslov
Citirano
Citirano
Godina
Synaptic, transcriptional and chromatin genes disrupted in autism
S De Rubeis, X He, AP Goldberg, CS Poultney, K Samocha, ...
Nature 515 (7526), 209-215, 2014
26652014
Functional impact of global rare copy number variation in autism spectrum disorders
D Pinto, AT Pagnamenta, L Klei, R Anney, D Merico, R Regan, J Conroy, ...
Nature 466 (7304), 368-372, 2010
22902010
Structural variation of chromosomes in autism spectrum disorder
CR Marshall, A Noor, JB Vincent, AC Lionel, L Feuk, J Skaug, M Shago, ...
The American Journal of Human Genetics 82 (2), 477-488, 2008
21112008
Reduction in neural-tube defects after folic acid fortification in Canada
P De Wals, F Tairou, MI Van Allen, SH Uh, RB Lowry, B Sibbald, JA Evans, ...
New England Journal of Medicine 357 (2), 135-142, 2007
11222007
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
10502014
Contribution of SHANK3 mutations to autism spectrum disorder
R Moessner, CR Marshall, JS Sutcliffe, J Skaug, D Pinto, J Vincent, ...
The American Journal of Human Genetics 81 (6), 1289-1297, 2007
7772007
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
RK C Yuen, D Merico, M Bookman, J L Howe, B Thiruvahindrapuram, ...
Nature neuroscience 20 (4), 602-611, 2017
7472017
A genome-wide scan for common alleles affecting risk for autism
R Anney, L Klei, D Pinto, R Regan, J Conroy, TR Magalhaes, C Correia, ...
Human molecular genetics 19 (20), 4072-4082, 2010
7112010
Hereditary diffuse gastric cancer syndrome: CDH1 mutations and beyond
S Hansford, P Kaurah, H Li-Chang, M Woo, J Senz, H Pinheiro, ...
JAMA oncology 1 (1), 23-32, 2015
7022015
Whole-genome sequencing of quartet families with autism spectrum disorder
RKC Yuen, B Thiruvahindrapuram, D Merico, S Walker, K Tammimies, ...
Nature medicine 21 (2), 185-191, 2015
5762015
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus
S Jacquemont, A Reymond, F Zufferey, L Harewood, RG Walters, ...
Nature 478 (7367), 97-102, 2011
5272011
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer
P Kaurah, A MacMillan, N Boyd, J Senz, A De Luca, N Chun, G Suriano, ...
Jama 297 (21), 2360-2372, 2007
5182007
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
4522017
Individual common variants exert weak effects on the risk for autism spectrum disorders
R Anney, L Klei, D Pinto, J Almeida, E Bacchelli, G Baird, N Bolshakova, ...
Human molecular genetics 21 (21), 4781-4792, 2012
4412012
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
SL Sawyer, T Hartley, DA Dyment, CL Beaulieu, J Schwartzentruber, ...
Clinical genetics 89 (3), 275-284, 2016
4202016
Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder
K Tammimies, CR Marshall, S Walker, G Kaur, B Thiruvahindrapuram, ...
Jama 314 (9), 895-903, 2015
4072015
Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD
AC Lionel, J Crosbie, N Barbosa, T Goodale, B Thiruvahindrapuram, ...
Science translational medicine 3 (95), 95ra75-95ra75, 2011
4032011
SHANK1 deletions in males with autism spectrum disorder
D Sato, AC Lionel, CS Leblond, A Prasad, D Pinto, S Walker, I O'Connor, ...
The American Journal of Human Genetics 90 (5), 879-887, 2012
3862012
Clinical and genetic epidemiology of Bardet–Biedl syndrome in Newfoundland: A 22‐year prospective, population‐based, cohort study
SJ Moore, JS Green, Y Fan, AK Bhogal, E Dicks, BA Fernandez, ...
American journal of medical genetics Part A 132 (4), 352-360, 2005
3592005
Autism spectrum disorder: advances in evidence-based practice
E Anagnostou, L Zwaigenbaum, P Szatmari, E Fombonne, BA Fernandez, ...
Cmaj 186 (7), 509-519, 2014
3272014
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