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Bridget Fernandez
Bridget Fernandez
Professor of Clinical Pediatrics, Keck School of Medicine, University of Southern California
Email verificata su chla.usc.edu
Titolo
Citata da
Citata da
Anno
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
21132014
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
20742010
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
19432008
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
10132007
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
8912014
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
6692007
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
6402010
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
RKC Yuen, D Merico, M Bookman, JL Howe, B Thiruvahindrapuram, ...
Nature neuroscience 20 (4), 602-611, 2017
5472017
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
5322015
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
4932015
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
4592007
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
4562011
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
3912012
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
3612011
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
3452017
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
3322012
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
3292016
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
3262015
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
2962005
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11. 2 in individuals ascertained for diagnosis of autism spectrum disorder
BA Fernandez, W Roberts, B Chung, R Weksberg, S Meyn, P Szatmari, ...
Journal of medical genetics 47 (3), 195-203, 2010
2902010
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