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Kimihiko Oishi

  • ASSISTANT PROFESSOR Genetics and Genomic Sciences
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  • Clinical Genetics

  • American Board of Pediatrics

Clinical Focus


  • MD, Tokyo Jikekai Ikadaigaku

  • Residency, Pediatrics
    Tokyo Jikekai Ikadaigaku

  • Residency, Pediatrics
    Mount Sinai Hospital

  • Residency, Medical Genetics
    Mount Sinai Hospital


    Dr. Kimihiko Oishi is Assistant Professor of Department of Genetics and Genomic Sciences and Department of Pediatrics. He received his medical degree from Jikei University School of Medicine in Tokyo, Japan, followed by Pediatrics residency at Jikei University Hospital. After his research fellowship in Dr. Gelb’s molecular cardiology laboratory at Mount Sinai, he completed his Pediatrics residency and Medical Genetics fellowship at Mount Sinai Hospital. He joined the faculty at Mount Sinai after completing his fellowship in 2014. His current research focuses on inborn errors of metabolism and familial tumor syndromes.

    He is a clinical geneticist and serves as an attending physician in Medical Genetics in the Biochemical Genetics Clinic and an attending physician in General Pediatrics for particularly for children from Japanese speaking families at the Mount Sinai Medical Center.


  • 2013 - 2013
    Judith P. Wilner Resident Award, Medical Genetics, Icahn School of Medicine

  • 2012 - 2012
    Kurt Hirschhorn M.D. Clinician-Scientist Award, Pediatrics, Icahn School of Medicine

  • 2005 - 2005
    Young Investigator Awards, Eastern Society for Pediatric Research

  • 2004 - 2004
    The Society for Pediatric Research Fellow’s Basic Research Award

  • 2004 - 2004
    The Uehara Memorial Foundation Research Fellowship


Oishi K, Diaz G. Thiamine-Responsive Megaloblastic Anemia Syndrome in GeneReviews at GeneTests: Medical Genetics Information Resource . Database Online. 2014;.

Oishi K, Diaz G. Glycerol phenylbutyrate for the chronic management of urea cycle disorders. . Expert Rev. Endocrinol. Metab. 2014; 9(5): 427–434 .

Pagani M, Oishi K, Gelb B, Zhong Y. Spacing effect: SHP-2 phosphatase regulates resting intervals between learning trials in long-term memory induction. . Cell 2009; 139: 186-198.

Oishi K, Zhang H, Gault W, Wang C, Tan C, Kim I, Ying H, Rahman T, Pica N, Tartaglia M, Mlodzik M, Gelb B. LEOPARD syndrome mutations in PTPN11 have gain-of-function effects during Drosophila development. . Hum Molec Genet 2009; 18: 193-201.

Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JP, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nature Genet 2007; 39: 75-79.

Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD. Gain-of- function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nature Genet 2007; 39: 1007-1012.

Oishi K, Gaengel K, Krishnamoorthy S, Kamiya K, Kim IK, Ying H, Weber U, Perkins LA, Tartaglia M, Mlodzik M, Pick L, Gelb BD. Transgenic Drosophila models of Noonan syndrome-causing PTPN11 gain-of-function mutations. Hum. Mol. Genet 2006; 15(4): 543-553.

Davies JP, Scott C, Oishi K, Liapis A, Ioannou YA. Inactivation of NPC1L1 causes multiple lipid transport defect and protect against diet-induced hypercholesterolemia. J. Biol. Chem 2005; 280(13): 12710-12720.

Oishi K, Barchi M, Au AC, Gelb BD, Diaz GA. Male infertility due to germ cell apoptosis in mice lacking the thiamin carrier, Tht1. A new insight into the critical role of thiamin in spermatogenesis. Dev. Biol 2004; 266: 299-309.

Oishi K, Hofmann S, Diaz GA, Brown T, Manwani D, Ng L, Young R, Vlassara H, Ioannou YA, Forrest D, Gelb BD. Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness, and megaloblastosis in mice. Hum. Mol. Genet 2002; 11(23): 2951-2960.

Oishi K, Hirai T, Gelb BD, Diaz GA. Slc19a2: Cloning and characterization of the murine thiamin transporter cDNA and genomic sequence, the orthologue of the human TRMA gene. Mol. Genet. Metab 2001; 73(2): 149-159.

Diaz G, Banikazemi M, Oishi K, Desnick R. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Nat Genet 1999 Jul; 22(3): 309-12.

Tan CC, Veetil S, Li SD, Nishio H, Stoller JZ, Oishi K, Puttreddy S, Lee TJ, Epstein JA, Walsh MJ, Gelb BD. Transcription Factor Ap2d Associates with Ash2l and ALR, a Trithorax Family Histone Methyltransferase, to Activate Hoxc8 Transcription . Proc. Natl. Acad. Sci;.

Industry Relationships

Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device and biotechnology companies to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their relationships with such companies.

Dr. Oishi did not report having any of the following types of financial relationships with industry during 2015 and/or 2016: consulting, scientific advisory board, industry-sponsored lectures, service on Board of Directors, participation on industry-sponsored committees, equity ownership valued at greater than 5% of a publicly traded company or any value in a privately held company. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.

Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.

Insurance Information

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