Ryan Henry Peretz

Title(s)HS Assistant Clinical Professor, Pediatrics
ORCID ORCID Icon0000-0002-7570-1018 Additional info
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    Collapse Biography 
    Collapse Education and Training
    University of California, Berkeley, Berkeley, CABA12/2021Molecular and Cell Biology, Emphasis in Neurobiology
    St. George’s University School of Medicine, Grenada, West IndiesMD04/2016Medicine, graduated Magna Cum Laude
    Driscoll Children’s Hospital/Texas A&M College of Medicine Program, Corpus Christi, Texas06/2019Pediatric Residency
    National Institutes of Health (NIH)/National Human Genome Research Institute-Johns Hopkins, Bethesda, MD06/2021Medical Genetics and Genomic Medicine Fellowship
    National Institutes of Health (NIH)/National Human Genome Research Institute (NHGRI), Bethesda, MD06/2022Medical Biochemical Genetics Fellowship
    Collapse Awards and Honors
    Los Angeles County Department of Health Services2023DHS Innovation, Dedication and Excellence in Ambulatory Care (IDEA) Award (‘Innovative' Category)
    California Association of Public Hospitals and Health Systems/Safety Net Institute2023Quality Leaders Award in Care Redesign
    Driscoll Children's Hospital2019Senior Resident of the Year Award

    Collapse Overview 
    Collapse Overview
    Dr. Ryan Peretz completed his medical biochemical genetics training at the National Institutes of Health’s National Human Genome Research Institute (NIH/NHGRI), clinical genetics training at the NIH/NHGRI-Johns Hopkins Consortium Program, and pediatric training at Texas A&M College of Medicine-Driscoll Children’s Hospital.

    His research interests primarily involve medical biochemical genetics and newborn screening, specifically investigating conditions that may cause neurodegenerative diseases and metabolic brain injury (also known as metabolic strokes), including methylmalonic acidemia and Leigh syndrome.

    Dr. Peretz earned his Bachelor of Arts degree from the University of California, Berkeley in Molecular and Cell Biology with an emphasis in Neurobiology and his M.D. from St. George’s University School of Medicine in Grenada, graduating Magna Cum Laude. During his medical education, he also had the opportunity to rotate at UCLA Mattel Children’s Hospital, Children’s National Hospital, Walter Reed National Military Medical Center, Lucile Packard Children’s Hospital Stanford, Texas Children’s Hospital, Atlantic Health System, Medstar Washington Hospital Center, INOVA Fairfax Medical Campus, Kennedy Krieger Institute, GeneDx, Quest Diagnostics, Maryland State Newborn Screening, and the Lysosomal and Rare Disorders Research and Treatment Center.

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    Collapse Bibliographic 
    Collapse Publications
    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. The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem. JIMD Rep. 2023 May; 64(3):233-237. Forsyth R, Peretz RH, Dempsey A, Britton J, Kratz L, Hamosh A, Vernon H, Batshaw ML, Valle D. PMID: 37151362; PMCID: PMC10159862.
      View in: PubMed   Mentions: 1  
    2. A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome. Am J Med Genet A. 2023 02; 191(2):624-629. Peretz RH, Zein WM, Hufnagel RB, Ku C, Godfrey R, Wolfe L, Adams D, Gahl W, Toro C. PMID: 36541585.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    3. Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening. Mol Genet Metab. 2021 Sep-Oct; 134(1-2):37-42. Peretz RH, Ah Mew N, Vernon HJ, Ganetzky RD. PMID: 34176718; PMCID: PMC8578202.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansPHPublic Health
    4. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med. 2020 07; 22(7):1215-1226. Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg D, Amiel J, Urreizti R, Gordon CT. PMID: 32376980; PMCID: PMC8093014.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    5. Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome). Am J Med Genet A. 2020 06; 182(6):1491-1495. Peretz RH, Flora CH, Adams DJ. PMID: 32216080.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans