Bridget Fernandez

Title(s)Professor of Clinical Pediatrics
SchoolKeck School of Medicine of Usc
Address4640 West Sunset Blvd
Off Campus
Los Angeles CA 90027
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    Dr. Fernandez received her BS in Human Physiology from McGill University, Montreal Canada. She obtained her MD from Memorial University of Newfoundland, Canada and then completed a residency in Medical Genetics at SickKids Hospital, University of Toronto. She has an MS in Clinical Epidemiology and is boarded in Medical Genetics in the US and Canada. During her career in Canada, Dr. Fernandez lead the development of Newfoundland’s Provincial Medical Genetic Program, as the program’s Medical Director for over 20 years. She later became Department Chair of Human Genetics at Memorial University’s Medical School (2012-20). She chaired Canada’s national Medical Genetics Examination Board (2006-10) and was President of the Canadian College of Medical Geneticists (2010-12). She joined Children’s Hospital Los Angeles and USC in 2020 and is a Professor of Clinical Pediatrics. She is also Associate Director of Clinical Research at The Saban Research Institute, Children’s Hospital Los Angeles. Dr. Fernandez' research focuses on building deeply phenotyped cohorts of children with autism spectrum disorder (ASD) to better inform genomic studies. She has worked with over 1,000 Canadian families with an autistic child. In Los Angeles, her laboratory focuses on correlating rare and common ASD-associated genomic variants in Hispanic children who have been carefully clinically characterized, and on closing the knowledge gap about benign and medical significant genomic variation in individuals that self-identify as Hispanic or Latinx.

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    1. Optical genome mapping improves clinical interpretation of constitutional copy number gains and reduces their VUS burden. Genet Med. 2025 May 06; 101452. Dharmadhikari AV, Markowitz AL, Han J, Estrine DB, Xu D, Ma K, Fong C, Fernandez BA, Deardorff MA, Schmidt RJ, Ji J, Raca G. PMID: 40340270.
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    2. A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features. Sci Rep. 2020 07 02; 10(1):10827. Evans DR, Green JS, Fahiminiya S, Majewski J, Fernandez BA, Deardorff MA, Johnson GJ, Whelan JH, Hubmacher D, Apte SS, Care4Rare Canada Consortium, Woods MO. PMID: 32616716; PMCID: PMC7331723.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
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