Ryan Peretz • UCLA Profiles

Ryan Henry Peretz

Title(s)	HS Assistant Clinical Professor, Pediatrics
School	Medicine
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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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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.

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
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:
Gen Genetics
Translation:Humans
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: 2 Fields:
Bio Biochemistry Met Metabolism Mol Molecular Biology
Translation:Humans PHPublic Health
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: 8 Fields:
Gen Genetics
Translation:Humans Cells
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:
Gen Genetics
Translation:Humans