KimihikoOishiMD

PubMed

• 1 citations
  Biallelic MTHFD1 variants presenting as severe combined immunodeficiency.
  Ashley Sang Eun Lee, Karina Rotella, Amanda Agyemang, Hsi-En Ho, Kimihiko Oishi, Charlotte Cunningham-Rundles> ;Clinical Immunology. 2023 Oct 1
• Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10.
  Eri Imagawa, Latisha Moreta, Vinod K Misra, Claire Newman, Tsuyoshi Konuma, Kimihiko Oishi> ;Journal of Human Genetics. 2023 Sep 1
• 1 citations
  YouTube videos in Japanese as a source of information on nocturnal enuresis: a content-quality and reliability analysis.
  Naoto Nishizaki, Daishi Hirano, Kimihiko Oishi, Toshiaki Shimizu> ;Pediatrics International. 2021 Nov 8
• 3 citations
  Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intake.
  Kimihiko Oishi, Casey Siegel, Emalyn E Cork, Hongjie Chen, Eri Imagawa> ;Journal of Human Genetics. 2021 Mar 1
• 43 citations
  Mitochondrial dysfunction in nonalcoholic fatty liver disease and alcohol related liver disease.
  Pankaj Prasun, Ilona Ginevic, Kimihiko Oishi> ;Translational Gastroenterology and Hepatology. 2021 Jan 5
• 2 citations
  Acute Kidney Injury Following Pediatric Liver Transplant
  Layne J Silver, Stephanie Pan, John C. Bucuvalas, Jessica Reid-Adam, Kimihiko Oishi, George Ofori-Amanfo, Sandeep Gangadharan> ;Journal of Intensive Care Medicine. 2022 Jan 1
• 4 citations
  Nutritional Management and Biochemical Outcomes during the Immediate Phase after Liver Transplant for Methylmalonic Acidemia.
  Casey Siegel, Ronen Arnon, Sander Florman, John C. Bucuvalas, Kimihiko Oishi> ;Nutrients. 2020 Sep 29
• Clinical assessment of upper airway and its complications in Hunter syndrome.
  Masatoshi Iijima, Daishi Hirano, Kentaro Yokoi, Hiroshi Kobayashi, Masako Fujiwara, Hiroyuki Ida, Kimihiko Oishi> ;Pediatrics International. 2021 May 1
• 2 citations
  A novel Romani microdeletion variant in the promoter sequence of ASS1 causes citrullinemia type I.
  George A. Diaz, Kimihiko Oishi> ;Molecular Genetics and Metabolism Reports. 2020 Sep 1
• 9 citations
  A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features.
  Eri Imagawa, Tsuyoshi Konuma, George A. Diaz, Kimihiko Oishi> ;Clinical Genetics. 2020 Aug 19
• 47 citations
  Knowledge and attitudes on pharmacogenetics among pediatricians.
  Shahad Rahawi, Hetanshi Naik, Kathryn V Blake, Aniwaa Owusu Obeng, Rachel M. Wasserman, Yoshinori Seki, Vicky L. Funanage, Kimihiko Oishi, Stuart A. Scott> ;Journal of Human Genetics. 2020 Jan 27
• 15 citations
  Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
  Willemijn J. van Rijt, Emmalie A. Jager, Derk P. Allersma, A. Çiğdem Aktuğlu Zeybek, Kaustuv Bhattacharya, François-Guillaume Debray, Carolyn Ellaway, Matthias Gautsch...> ;Genetics in Medicine. 2020 Jan 6
• 36 citations
  Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients
  Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, Keng Wee Teik, Seiji Mizuno, Hiroshi Suzumura, Bertrand Isidor, Winnie Peitee Ong, Muzhirah Haniffa, Susan M....> ;Journal of Human Genetics. 2019 Dec 1
• 4 citations
  Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation.
  Edith Schussler, Rita V. Linkner, Jacob Levitt, Lakshmi Mehta, John A. Martignetti, Kimihiko Oishi> ;Advances in Genomics and Genetics. 2018 Jun 27
• 1 citations
  Skin lesions in a patient with Cobalamin C disease in poor metabolic control
  Pankaj Prasun, Cristel C. Chapel-Crespo, Amy Williamson, Paul Chu, Kimihiko Oishi, George A. Diaz> ;Journal of Inherited Metabolic Disease. 2018 Mar 1
• 22 citations
  De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.
  Akemi J. Tanaka, Megan T. Cho, Rebecca Willaert, Kyle Retterer, Yuri A. Zarate, Katie Bosanko, Vikki Stefans, Kimihiko Oishi, Amy Williamson, Golder N. Wilson, Alice B...> ;Cold Spring Harbor Molecular Case Studies. 2017 Nov 21
• 18 citations
  Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.
  Lisong Shi, Bryn D. Webb, Ashley H Birch, L. Elkhoury, J. McCarthy, Xiaoqiang Cai, Kimihiko Oishi, Lakshmi Mehta, George A. Diaz, Lisa Edelmann, Ruth Kornreich> ;Clinical Genetics. 2017 Apr 1
• 7 citations
  Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders
  Cristel C. Chapel-Crespo, George A. Diaz, Kimihiko Oishi> ;Expert Review of Endocrinology & Metabolism. 2016 Sep 28
• 31 citations
  Liver transplantation for pediatric inherited metabolic disorders: Considerations for indications, complications, and perioperative management.
  Kimihiko Oishi, Ronen Arnon, Melissa P. Wasserstein, George A. Diaz> ;Pediatric Transplantation. 2016 Jun 21
• 5 citations
  Glycerol phenylbutyrate for the chronic management of urea cycle disorders.
  Kimihiko Oishi, George A. Diaz> ;Expert Review of Endocrinology & Metabolism. 2014 Aug 21
• 128 citations
  The Phosphatase SHP2 Regulates the Spacing Effect for Long-Term Memory Induction
  Mario Rafael Pagani, Kimihiko Oishi, Bruce D. Gelb, Yi Zhong> ;Cell. 2009 Oct 2
• 68 citations
  Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development
  Kimihiko Oishi, Hui Zhang, William J. Gault, Cindy J. Wang, Cheryl C. Tan, In Kyong Kim, Huiwen Ying, Tabassum Rahman, Natalie Pica, Marco Tartaglia, Marek Mlodzik, Br...> ;Human Molecular Genetics. 2009 Jan 1
• 31 citations
  Transcription factor Ap2δ associates with Ash2l and ALR, a trithorax family histone methyltransferase, to activate Hoxc8 transcription
  Cheryl C. Tan, K. V. Sindhu, SiDe Li, Hitomi Nishio, Jason Z. Stoller, Kimihiko Oishi, Sahitya Puttreddy, Tamara J. Lee, Jonathan A. Epstein, Martin J. Walsh, Bruce D....> ;Proceedings of the National Academy of Sciences of the United States of America. 2008 May 27
• 494 citations
  Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
  Bhaswati Pandit, Anna Sarkozy, Len A. Pennacchio, Claudio Carta, Kimihiko Oishi, Simone Martinelli, Edgar A. Pogna, Wendy Schackwitz, Anna Ustaszewska, Andrew P. Lands...> ;Nature Genetics. 2007 Aug 1
• 424 citations
  Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
  Marco Tartaglia, Len A. Pennacchio, Chen Zhao, Kamlesh K Yadav, Valentina Fodale, Anna Sarkozy, Bhaswati Pandit, Kimihiko Oishi, Simone Martinelli, Wendy Schackwitz, A...> ;Nature Genetics. 2007 Jan 1
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