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Publications by Satomi Mitsuhashi

Biallelic Mutations in MYPN , Encoding Myopalladin, Are Associated With Childhood-Onset, Slowly Progressive Nemaline Myopathy

American Journal of Human Genetics

English

De Novo Truncating Variants in PHF21A Cause Intellectual Disability and Craniofacial Anomalies

European Journal of Human Genetics

English

Long-Read DNA Sequencing Fully Characterized Chromothripsis in a Patient With Langer–Giedion Syndrome and Cornelia De Lange Syndrome-4

Journal of Human Genetics

English

Identification of the N-Terminal Transmembrane Domain of StarD7 and Its Importance for Mitochondrial Outer Membrane Localization and Phosphatidylcholine Transfer

Scientific Reports

Multidisciplinary

English

Exome Sequencing Identifies a Novel SMCHD1 Mutation in Facioscapulohumeral Muscular Dystrophy 2

Neuromuscular Disorders

English

SOFT Syndrome in a Patient From Chile

American Journal of Medical Genetics, Part A

English