author-photo

Kohei Hamanaka

Yokohama City University

41

Papers

379

Citations

Citation Trend

Filter By

Papers (25) Sort By

Journal Conference Others

Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.

2021 Clinical Genetics
Show All
- Source
- Cite
- Save
Citations (0)
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.

2021 Human Molecular Genetics
Show All
- Source
- Cite
- Save
Citations (0)
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms.

2021 Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (0)
Refinement of the clinical variant interpretation framework by statistical evidence and machine learning

2021
Show All
- Source
- Cite
- Save
Citations (0)
Novel CLTC variants cause new brain and kidney phenotypes.

2021 Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (0)
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features.

2021 Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (0)
The identification of two pathogenic variants in a family with mild and severe forms of developmental delay.

2020 Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (0)
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.

2020 Human Mutation
Show All
- Source
- Cite
- Save
Citations (3)
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.

2020 American Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (9)
Whole exome sequencing of fetal structural anomalies detected by ultrasonography.

2020 Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (4)