Shoji Yano, MD, PhD

Title(s)Associate Professor of Clinical Pediatrics and Medicine
SchoolKeck School of Medicine of Usc
AddressGLB 1-G24 1801 Marengo Street
Off Campus
Los Angeles CA 90033
Phone+1 323 409 6800
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    Other Positions
    Title(s)Division Head of Genetics


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    Medical/Graduate School: Kurume University, Japan
    Residency: Kurume University, CHLA
    Fellowship: UCSD, CHLA/USC
    Position: Director Genetics Division
    Description of Current Position:
    Genetics outpatient clinic, inpatient/outpatient consultation, research activities in errors of inborn metabolism.

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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. Twin Premature Infants With Riboflavin and Biotin Deficiency Presenting With Refractory Lactic Acidosis, Rash, and Multiorgan Failure During Prolonged Parenteral Nutrition. J Investig Med High Impact Case Rep. 2023 Jan-Dec; 11:23247096231168111. Adie MA, Martes Gomez M, Yom J, Durand M, Wertheimer F, McGowan R, Yano S, Ramanathan R. PMID: 37085971; PMCID: PMC10126694.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    2. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am J Hum Genet. 2021 02 04; 108(2):357-367. Weng PL, Majmundar AJ, Khan K, Lim TY, Shril S, Jin G, Musgrove J, Wang M, Ahram DF, Aggarwal VS, Bier LE, Heinzen EL, Onuchic-Whitford AC, Mann N, Buerger F, Schneider R, Deutsch K, Kitzler TM, Klämbt V, Kolb A, Mao Y, Moufawad El Achkar C, Mitrotti A, Martino J, Beck BB, Altmüller J, Benz MR, Yano S, Mikati MA, Gunduz T, Cope H, Shashi V, Undiagnosed Diseases Network, Trachtman H, Bodria M, Caridi G, Pisani I, Fiaccadori E, AbuMaziad AS, Martinez-Agosto JA, Yadin O, Zuckerman J, Kim A, UCLA Clinical Genomics Center, John-Kroegel U, Tyndall AV, Parboosingh JS, Innes AM, Bierzynska A, Koziell AB, Muorah M, Saleem MA, Hoefele J, Riedhammer KM, Gharavi AG, Jobanputra V, Pierce-Hoffman E, Seaby EG, O'Donnell-Luria A, Rehm HL, Mane S, D'Agati VD, Pollak MR, Ghiggeri GM, Lifton RP, Goldstein DB, Davis EE, Hildebrandt F, Sanna-Cherchi S. PMID: 33508234; PMCID: PMC7895901.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCells
    3. Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas. J Pediatr Genet. 2022 Mar; 11(1):47-50. Yano S, Moseley K, Mahajan N, Warren M, Vachon L. PMID: 35186390; PMCID: PMC8847045.
      View in: PubMed   Mentions: 3  
    4. Association of a de novo nonsense mutation of the TRIM8 gene with childhood-onset focal segmental glomerulosclerosis. Pediatr Nephrol. 2020 06; 35(6):1129-1132. Warren M, Takeda M, Partikian A, Opas L, Fine R, Yano S. PMID: 32193649.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    5. Use of electron microscopy when screening liver biopsies from neonates and infants: experience from a single tertiary children's hospital (1991-2017). Ultrastruct Pathol. 2020 Jan 02; 44(1):32-41. Warren M, Shimura M, Wartchow EP, Yano S. PMID: 31900039.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    6. Reduction of large soft-tissue Gaucheromas with substrate reduction therapy. J Inherit Metab Dis. 2020 03; 43(2):375-376. Mahajan N, Warren M, Yano S. PMID: 31705761.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    7. SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat. 2019 07; 40(7):908-925. Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH. PMID: 30817854; PMCID: PMC6661012.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansAnimalsCells
    8. New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome. Clin Genet. 2018 11; 94(5):487-488. Yano S, Fujimoto A, Morin-Leisk J, Matumoto N, Miyake N, Gillespie M, Gao H. PMID: 30209809.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    9. Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease). Ultrastruct Pathol. 2018 May-Jun; 42(3):220-227. Warren M, Mierau G, Wartchow EP, Shimada H, Yano S. PMID: 29482424.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    10. Evaluation of Tetrahydrobiopterin Therapy with Large Neutral Amino Acid Supplementation in Phenylketonuria: Effects on Potential Peripheral Biomarkers, Melatonin and Dopamine, for Brain Monoamine Neurotransmitters. PLoS One. 2016; 11(8):e0160892. Yano S, Moseley K, Fu X, Azen C. PMID: 27513937; PMCID: PMC4981358.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    11. Large soft-tissue masses in an adult patient with Gaucher disease. J Inherit Metab Dis. 2016 11; 39(6):887-888. Mahajan N, Brynes R, Yano S. PMID: 27503099.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    12. Pilot study to evaluate the effects of tetrahydrobiopterin on adult individuals with phenylketonuria with measurable maladaptive behaviors. CNS Spectr. 2015 Apr; 20(2):157-63. Moseley KD, Ottina MJ, Azen CG, Yano S. PMID: 25323746.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    13. 2-year-old girl with pancytopenia due to vitamin B12 (cobalamin) deficiency. J Paediatr Child Health. 2014 Nov; 50(11):926-8. Ho CH, Thomas M, McGuire E, Yano S. PMID: 24906012.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    14. Melatonin and dopamine as biomarkers to optimize treatment in phenylketonuria: effects of tryptophan and tyrosine supplementation. J Pediatr. 2014 Jul; 165(1):184-189.e1. Yano S, Moseley K, Azen C. PMID: 24857519; PMCID: PMC8889885.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    15. Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry. Mol Genet Metab. 2014 May; 112(1):9-16. Grange DK, Hillman RE, Burton BK, Yano S, Vockley J, Fong CT, Hunt J, Mahoney JJ, Cohen-Pfeffer JL, Phenylketonuria Demographics Outcomes and Safety (PKUDOS) registry, Maternal Phenylketonuria Observational Program (PKU MOMS) sub-registry. PMID: 24667082.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    16. Glycosaminoglycan metabolism defects and atherosclerosis: frequent association of endothelial dysfunction in patients with Mucopolysaccharidosis. J Inherit Metab Dis. 2014 Mar; 37(2):255-61. Yano S, Moseley K, Wong L, Castelnovi C, Azen C, Pavlova Z. PMID: 23893050; PMCID: PMC8889886.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    17. Maternal Phenylketonuria International Collaborative Study revisited: evaluation of maternal nutritional risk factors besides phenylalanine for fetal congenital heart defects. J Inherit Metab Dis. 2014 Jan; 37(1):39-42. Yano S, Moseley K, Bottiglieri T, Arning E, Azen C. PMID: 23784316; PMCID: PMC8889884.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    18. Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature. Am J Med Genet A. 2013 Jun; 161A(6):1221-37. Kosho T, Okamoto N, Ohashi H, Tsurusaki Y, Imai Y, Hibi-Ko Y, Kawame H, Homma T, Tanabe S, Kato M, Hiraki Y, Yamagata T, Yano S, Sakazume S, Ishii T, Nagai T, Ohta T, Niikawa N, Mizuno S, Kaname T, Naritomi K, Narumi Y, Wakui K, Fukushima Y, Miyatake S, Mizuguchi T, Saitsu H, Miyake N, Matsumoto N. PMID: 23637025.
      View in: PubMed   Mentions: 44     Fields:    Translation:Humans
    19. Large neutral amino acid supplementation increases melatonin synthesis in phenylketonuria: a new biomarker. J Pediatr. 2013 May; 162(5):999-1003. Yano S, Moseley K, Azen C. PMID: 23164313; PMCID: PMC8803270.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    20. Silvery-gray hair in a newborn. JAMA. 2012 Aug 08; 308(6):617-8. Wong L, Yano S. PMID: 22871872.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    21. The transforming growth factor-Beta signaling pathway involvement in cardiovascular lesions in mucopolysaccharidosis-I. JIMD Rep. 2013; 7:55-8. Yano S, Li C, Pavlova Z. PMID: 23430495; PMCID: PMC3575049.
      View in: PubMed   Mentions: 4  
    22. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 2012 Mar 18; 44(4):376-8. Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N. PMID: 22426308.
      View in: PubMed   Mentions: 233     Fields:    Translation:HumansCells
    23. Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. Clin Genet. 2011 Nov; 80(5):466-71. Yano S, Baskin B, Bagheri A, Watanabe Y, Moseley K, Nishimura A, Matsumoto N, Ray PN. PMID: 20950395.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    24. Maternal isovaleric acidemia: observation of distinctive changes in plasma amino acids and carnitine profiles during pregnancy. Clin Chim Acta. 2010 Dec 14; 411(23-24):2101-3. Castelnovi C, Moseley K, Yano S. PMID: 20807522.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    25. Long-term neurodevelopmental effects of early detection and treatment in a 6-year-old patient with argininaemia diagnosed by newborn screening. J Inherit Metab Dis. 2009 Dec; 32 Suppl 1:S197-200. Edwards RL, Moseley K, Watanabe Y, Wong LJ, Ottina J, Yano S. PMID: 19562505.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansPHPublic Health
    26. Creatine metabolism in combined methylmalonic aciduria and homocystinuria disease revisited. Ann Neurol. 2009 Apr; 65(4):481-2; author reply 482-3. Younessi D, Moseley K, Yano S. PMID: 19399869.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    27. Postmortem studies on a patient with mucopolysaccharidosis type I: histopathological findings after one year of enzyme replacement therapy. J Inherit Metab Dis. 2009 Dec; 32 Suppl 1:S53-7. Yano S, Moseley K, Pavlova Z. PMID: 19308670.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    28. Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis. Pediatr Hematol Oncol. 2005 Dec; 22(8):717-21. Wu S, Gonzalez-Gomez I, Coates T, Yano S. PMID: 16251179.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    29. Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: report of a new case. Am J Med Genet A. 2003 Jul 30; 120A(3):400-5. Schweitzer DN, Yano S, Earl DL, Graham JM. PMID: 12838563.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    30. Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment. Mol Genet Metab. 2003 Jun; 79(2):110-3. Koch R, Moseley KD, Yano S, Nelson M, Moats RA. PMID: 12809641.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCTClinical Trials
    31. Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome. J Inherit Metab Dis. 2003; 26(5):481-8. Yano S, Li L, Le TP, Moseley K, Guedalia A, Lee J, Gonzalez I, Boles RG. PMID: 14518828.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    32. 3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase. Clin Chim Acta. 1995 Aug 31; 240(1):35-51. Röschinger W, Millington DS, Gage DA, Huang ZH, Iwamoto T, Yano S, Packman S, Johnston K, Berry SA, Sweetman L. PMID: 8582058.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
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