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Chihiro Ohba

Yokohama City University

39

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1252

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Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing

2019 Journal of Medical Genetics
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De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders

2018 Annals of clinical and translational neurology
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De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies

2018 Brain & Development
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Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy

2018 American Journal of Human Genetics
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Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy

2018 Journal of Human Genetics
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A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.

2017 Journal of Human Genetics
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Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia

2017 Journal of the Neurological Sciences
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Citations (11)
Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.

2016 Journal of Human Genetics
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Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay.

2016 Scientific Reports
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Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

2016 American Journal of Human Genetics
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Citations (32)