Michiko Arakawa

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

Kosuke Izumi, Maggie Brett, Eriko Nishi et al. · The American Journal of Human Genetics · 2016 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non‐genetic factors

Kosuke Izumi, Daisuke Hayashi, Christopher M. Grochowski et al. · American Journal of Medical Genetics Part A · 2015 · 35 citations

Life Sciences, Genetics, Molecular Genetics +17

Exome sequencing‐based identification of mutations in non‐syndromic genes among individuals with apparently syndromic features

Eriko Nishi, Koji Masuda, Michiko Arakawa et al. · American Journal of Medical Genetics Part A · 2016 · 31 citations

Life Sciences, Genetics, Molecular Genetics +17

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

Sarah K. Fiordaliso, Aiko Iwata‐Otsubo, Alyssa Ritter et al. · The American Journal of Human Genetics · 2019 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Exome Sequencing Identification of <b><i>EP300</i></b> Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome

Koji Masuda, Kazuhiro Akiyama, Michiko Arakawa et al. · Molecular Syndromology · 2015 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17