Dr. Fernandez's 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 studying rare and common ASD-associated genomic variants in Hispanic children who have been carefully clinically characterized, and on increasing knowledge about benign and medically significant genomic variation in Hispanic individuals.
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 board certified in Medical Genetics in the US and Canada. During her career in Canada, Dr. Fernandez led 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 is a past 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.
- Neurodevelopmental disorders including autism spectrum disorder
- Pediatric and adult cardiovascular genetic disorders
Memorial University of Newfoundland, St. John's NL, Canada
Clinical Epidemiology, Memorial University of Newfoundland, St. John's NL, Canada
Medical Genetics Residency, The Hospital for Sick Children, University of Toronto, Toronto ON, Canada
Fellow of the Royal College of Physicians and Surgeons of Canada, FRCPC (Medical Genetics), 1999
Fellow of the Canadian College of Medical Geneticists, FCCMG (Clinical Genetics and Genomics), 1999
Fellow of the American College of Medical Genetics and Genomics, FACMG (Clinical Genetics and Genomics), 2019
American College of Medical Genetics and Genomics (ACMGG)
American Society of Human Genetics (ASHG)
Royal College of Physicians and Surgeons of Canada (RCPSC)
Canadian College of Medical Geneticists (CCMG)
- Associate Director of Clinical Research, The Saban Research Institute, CHLA (2020-present)
- Division Chief and Medical Director of the Provincial Medical Genetics Program in St. John’s NL Canada (2000 to 2020.) This program delivers clinical genetic services to all residents of the eastern Canadian province of Newfoundland across the lifespan.
- Chair, National Medical Genetics Examination Board, Royal College of Physicians and Surgeons of Canada (2006-2010)
- President, Canadian College of Medical Geneticists (CCMG) (2010-2012) – The CCMG certifies medical geneticists (MDs) and clinical laboratory geneticist (PhDs) and establishes professional and ethical standards for clinical genetic services in Canada
- Department Chair of Human Genetics, Memorial University of Newfoundland’s School of Medicine, Canada (2012-2020)
- Steering committee member, FORGE-Canada (2010-13) – Canadian national exome sequencing consortium
Chan AJS, Engchuan W, Reuter MS, Wang Z Thiruvahindrapuram B, Trost B, [17 co authors], Yuen RKC, Fernandez BA*, Scherer SW*. Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder. MedRxiv, doi: 10.1101/2021.10.20.21264950, Accepted By Nature Communications on 9-21-2022
Trost B, Engchuan W, Nguyen CM, Thiruvahindrapuram B, Dolzhenko E, Backstrom I, Mirceta M, Mojarad BA, Yin Y, Dov A, Chandrakumar I, Prasolava T, Shum N, Hamdan O, Pellecchia G, Howe JL, Whitney J, Klee EW, Baheti S, Amaral DG, Anagnostou E, Elsabbagh M, Fernandez BA, Hoang N, Lewis MES, Liu X, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Glazer D, Hartley D, Stewart AK, Eberle MA, Sato N, Pearson CE, Scherer SW, Yuen RKC. Genome-wide detection of tandem DNA repeats that are expanded in autism. Nature. 2020 Oct;586(7827):80-86. PubMed PMID: 32717741; PubMed Central PMCID: PMC9348607.
Fernandez BA, Scherer SW. Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach. Dialogues Clin Neurosci. 2017 Dec;19(4):353-371. Review. PubMed PMID: 29398931; PubMed Central PMCID: PMC5789213.
Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC, Yuen RK, Uddin M, Roberts W, Weksberg R, Woodbury-Smith M, Zwaigenbaum L, Anagnostou E, Wang Z, Wei J, Howe JL, Gazzellone MJ, Lau L, Sung WW, Whitten K, Vardy C, Crosbie V, Tsang B, D'Abate L, Tong WW, Luscombe S, Doyle T, Carter MT, Szatmari P, Stuckless S, Merico D, Stavropoulos DJ, Scherer SW, Fernandez BA. Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. JAMA. 2015 Sep 1;314(9):895-903. doi: 10.1001/jama.2015.10078. PubMed PMID: 26325558
Autism spectrum disorder, genomics, dysmorphology, optimizing genomic variant interpretation in Hispanic individuals