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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
28762014
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
23612010
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
21922008
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
11592007
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
11182014
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
8152017
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
8042007
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
7622015
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
7372010
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
6052015
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
5492011
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
5402007
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
4942017
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
4572012
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
4462015
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
4432016
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
4192011
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
3982012
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
3762005
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24. 32 and a significant overlap with schizophrenia
Molecular autism 8, 1-17, 2017
3552017
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