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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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden. Genet Med. 2025 Aug; 27(8):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.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    2. Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing. Genome Res. 2024 Nov 20; 34(11):1763-1773. Eisfeldt J, Higginbotham EJ, Lenner F, Howe J, Fernandez BA, Lindstrand A, Scherer SW, Feuk L. PMID: 39472019; PMCID: PMC11610597.
      View in: PubMed   Mentions:
    3. Genomic architecture of autism from comprehensive whole-genome sequence annotation. Cell. 2022 11 10; 185(23):4409-4427.e18. Trost B, Thiruvahindrapuram B, Chan AJS, Engchuan W, Higginbotham EJ, Howe JL, Loureiro LO, Reuter MS, Roshandel D, Whitney J, Zarrei M, Bookman M, Somerville C, Shaath R, Abdi M, Aliyev E, Patel RV, Nalpathamkalam T, Pellecchia G, Hamdan O, Kaur G, Wang Z, MacDonald JR, Wei J, Sung WWL, Lamoureux S, Hoang N, Selvanayagam T, Deflaux N, Geng M, Ghaffari S, Bates J, Young EJ, Ding Q, Shum C, D'Abate L, Bradley CA, Rutherford A, Aguda V, Apresto B, Chen N, Desai S, Du X, Fong MLY, Pullenayegum S, Samler K, Wang T, Ho K, Paton T, Pereira SL, Herbrick JA, Wintle RF, Fuerth J, Noppornpitak J, Ward H, Magee P, Al Baz A, Kajendirarajah U, Kapadia S, Vlasblom J, Valluri M, Green J, Seifer V, Quirbach M, Rennie O, Kelley E, Masjedi N, Lord C, Szego MJ, Zawati MH, Lang M, Strug LJ, Marshall CR, Costain G, Calli K, Iaboni A, Yusuf A, Ambrozewicz P, Gallagher L, Amaral DG, Brian J, Elsabbagh M, Georgiades S, Messinger DS, Ozonoff S, Sebat J, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Kushki A, Frazier TW, Vorstman JAS, Fakhro KA, Fernandez BA, Lewis MES, Weksberg R, Fiume M, Yuen RKC, Anagnostou E, Sondheimer N, Glazer D, Hartley DM, Scherer SW. PMID: 36368308; PMCID: PMC10726699.
      View in: PubMed   Mentions: 108     Fields:    Translation:Humans
    4. Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder. Nat Commun. 2022 10 29; 13(1):6463. Chan AJS, Engchuan W, Reuter MS, Wang Z, Thiruvahindrapuram B, Trost B, Nalpathamkalam T, Negrijn C, Lamoureux S, Pellecchia G, Patel RV, Sung WWL, MacDonald JR, Howe JL, Vorstman J, Sondheimer N, Takahashi N, Miles JH, Anagnostou E, Tammimies K, Zarrei M, Merico D, Stavropoulos DJ, Yuen RKC, Fernandez BA, Scherer SW. PMID: 36309498; PMCID: PMC9617891.
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    5. 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
    6. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet. 2014 May 01; 94(5):677-94. Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, Conceição IC, Chiocchetti AG, Casey JP, Cai G, Cabrol C, Bolshakova N, Bacchelli E, Anney R, Gallinger S, Cotterchio M, Casey G, Zwaigenbaum L, Wittemeyer K, Wing K, Wallace S, van Engeland H, Tryfon A, Thomson S, Soorya L, Rogé B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Jiménez González P, Jacob S, Holt R, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Chaste P, Café C, Brennan S, Bourgeron T, Bolton PF, Bölte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Almeida J, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg GD, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Hakonarson H, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcliffe JS, Hallmayer J, Gill M, Cook EH, Buxbaum JD, Devlin B, Gallagher L, Betancur C, Scherer SW. PMID: 24768552; PMCID: PMC4067558.
      View in: PubMed   Mentions: 524     Fields:    Translation:Humans
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