KosukeIzumiMD

PubMed

• Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
  Aiko Iwata-Otsubo, Cara M Skraban, Atsunori Yoshimura, Toyonori Sakata, Cesar Augusto P Alves, Sarah K Fiordaliso, Yukiko Kuroda, Jaime Vengoechea, Angela Grochowsky, ...> ;Human Genetics. 2024 Mar 23
• Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
  Anna Fetta, Francesco Toni, Ilaria Pettenuzzo, Emilia Ricci, Alessandro Rocca, Caterina Gambi, Luca Soliani, Veronica Di Pisa, Silvia Martini, Giacomo Sperti, Valeria ...> ;Orphanet Journal of Rare Diseases. 2024 Mar 8
• 1 citations
  Kagami Ogata syndrome: a small deletion refines critical region for imprinting.
  Kilich, G., Hassey, K., Falk, M., Rader, D., Raper, A., Zhang, Z., Westerfer, D., Jadhav, T., Conlin, L., Rajagopalan, R., , Behrens, E., Vanderver, A., Cahill, P., Iz...> ;NPJ Genomic Medicine. 2024 Jan 11
• Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy.
  Julia Keisling, Emma Bedoukian, Danielle S Burstein, J William Gaynor, Christopher Gray, Ian Krantz, Kosuke Izumi, Jacqueline Leonard, Kimberly Y Lin, Livija Medne, Ch...> ;The Journal of Pediatrics. 2024 Feb 1
• 1 citations
  Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development.
  Kosuke Izumi, Rebecca D Ganetzky, Gerald B W Wertheim, Cara M Skraban, Emma C Bedoukian, Alisha Wilkens, Christopher Fincher, Nina H Thomas, Jill P Ginsberg, Susan R R...> ;Molecular Syndromology. 2023 Aug 1
• 2 citations
  Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.
  Audrey G O'Neill, Anika L Burrell, Michael Zech, Orly Elpeleg, Tamar Harel, Simon Edvardson, Hagar Mor-Shaked, Alyssa L Rippert, Tomoki Nomakuchi, Kosuke Izumi, Justin...> ;The Journal of Biological Chemistry. 2023 Aug 1
• 3 citations
  Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
  Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Audrey Lawrence, Jiwoo Kim, Wonwook Do, Benjamin Semeo, Olivia Katz, Devanshi Mehta, Nobuko...> ;American Journal of Medical Genetics. Part A. 2023 Aug 1
• 2 citations
  Unmasking the challenges of Kabuki syndrome in adulthood: A case series.
  Jessica R C Priestley, Alyssa L Rippert, Courtney Condit, Kosuke Izumi, Staci Kallish, Theodore G Drivas> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2023 Jun 1
• 1 citations
  Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital.
  Kelly E Regan-Fendt, Alyssa L Rippert, Livija Medne, Cara M Skraban, Jeshua DeJesse, Christopher Gray, Sara L Reichert, Nicholas P Staropoli, Francis Jeshira Reynoso S...> ;American Journal of Medical Genetics. Part A. 2023 Aug 1
• Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases.
  Rose Guo, Alyssa L Rippert, Edward B Cook, Cesar Augusto P Alves, Lynne M Bird, Kosuke Izumi> ;American Journal of Medical Genetics. Part A. 2023 Oct 1
• 22 citations
  Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.
  Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C W Jones, Lucia Pacillo, Alyssa E James, Jill R Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Sh...> ;The Journal of Experimental Medicine. 2023 May 1
• 1 citations
  Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
  Yukiko Kuroda, Aiko Iwata-Otsubo, Kerith-Rae Dias, Suzanna E L Temple, Koji Nagao, Lachlan De Hayr, Ying Zhu, Shin-Ya Isobe, Gohei Nishibuchi, Sarah K Fiordaliso, Yuki...> ;Genetics in Medicine. 2023 Jul 1
• 4 citations
  Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins.
  Kelly E Regan-Fendt, Kosuke Izumi> ;Human Genetics. 2023 Mar 16
• 1 citations
  Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure.
  Audrey G O'Neill, Anika L Burrell, Michael Zech, Orly Elpeleg, Tamar Harel, Simon Edvardson, Hagar Mor Shaked, Alyssa L Rippert, Tomoki Nomakuchi, Kosuke Izumi, Justin...> ;Biorxiv. 2023 Mar 15
• 1 citations
  Expanding the reproductive organ phenotype of CHD7-spectrum disorder.
  Tomoki T Nomakuchi, Melinda Danowitz, Blythe Stewart, Jacqueline Leonard, Kosuke Izumi, Ian Krantz, Thomas F Kolon, David Langdon, Cara Skraban, Jason Van Batavia, Ela...> ;American Journal of Medical Genetics. Part A. 2023 May 1
• 4 citations
  Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
  Maimuna S Paul, Anna R Duncan, Casie A Genetti, Hongling Pan, Adam Jackson, Patricia E Grant, Jiahai Shi, Michele Pinelli, Nicola Brunetti-Pierri, Alexandra Garza-Flor...> ;American Journal of Human Genetics. 2023 Jan 5
• 11 citations
  Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
  Sayaka Kayumi, Luis A Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E Sheppard, Wendy K Chung, Michael C Kruer, Mira Kharbanda, David J Amor, George McGillivray, J...> ;Genetics in Medicine. 2022 Nov 1
• 5 citations
  MYH7 variants cause complex congenital heart disease.
  Alyssa Ritter, Jacqueline Leonard, Christopher Gray, Kosuke Izumi, Katharine Levinson, Divya R Nair, Matthew O'Connor, Joseph Rossano, Venkat Shankar, Jessica Chowns, ...> ;American Journal of Medical Genetics. Part A. 2022 Sep 1
• Mosaic RAI1 variant in a Smith-Magenis syndrome patient with total anomalous pulmonary venous return.
  Yukiko Kuroda, Alyssa Ritter, Sureni V Mullegama, Kosuke Izumi> ;American Journal of Medical Genetics. Part A. 2022 Oct 1
• 2 citations
  Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases.
  Olivia L Katz, K Taylor Wild, Deborah McEldrew, Maninder Kaur, Sarah Raible, Cara M Skraban, Elaine H Zackai, Livija Medne, Kosuke Izumi, Sierra Fortunato, Jamila Weat...> ;The Journal of Pediatrics. 2022 Jul 1
• 2 citations
  Expanding the phenotypic spectrum of ARCN1-related syndrome.
  Alyssa L Ritter, Jessica Gold, Hiroshi Hayashi, Amanda M Ackermann, Stephanie Hanke, Cara Skraban, Sanmati Cuddapah, Elizabeth Bhoj, Dong Li, Yukiko Kuroda, Jessica We...> ;Genetics in Medicine. 2022 Jun 1
• 10 citations
  Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
  Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, Alexander Stegmann, Richard H van Jaarsveld, Koen L van Gassen, Jasper J van der Smagt, Catharina M L Volker-Touw, S...> ;Genetics in Medicine. 2022 Aug 1
• 1 citations
  Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital.
  Amanda Barone Pritchard, Kosuke Izumi, Irma Payan-Walters, Marc Yudkoff, Elizabeth B Rand, Elizabeth Bhoj> ;American Journal of Medical Genetics. Part A. 2022 May 1
• 7 citations
  Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
  Jill R Murrell, Addie May I Nesbitt, Samuel W Baker, Kieran B Pechter, Jorune Balciuniene, Xiaonan Zhao, Elizabeth H Denenberg, Elizabeth T DeChene, Chao Wu, Pushkala ...> ;The Journal of Molecular Diagnostics. 2022 Mar 1
• 7 citations
  The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
  Smitha Kumble, Amanda M. Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew, Kwame Anyane-Yeboa, Paul J. Benke, Sara M. Berger, Lise Bjerglund, Belinda Campos-Xavier, Michae...> ;Human Mutation. 2021 Dec 2
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Journal Articles

• Variable Clinical Manifestations of Xia‐Gibbs Syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital  
  Carey McDougall, Elaine H Zackai, Paige Kaplan, Kosuke Izumi, Emma C Bedoukian, Stephanie B Asher, Livija Medne, Ian D Krantz, American Journal of Medical Genetics Part A