Kazuhiro Iwama

机构：Yokohama City University Hospital, Yokohama City University · ORCID：0000-0002-2584-9524

发表论文 50 篇 · 总被引 813 次 · h-index 18

代表论文

• Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses (2020 · Human Mutation · 被引 35)
• Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy (2020 · Journal of Human Genetics · 被引 26)
• De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality (2021 · Human Molecular Genetics · 被引 25)
• Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy (2021 · Clinical Genetics · 被引 24)
• Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy (2021 · Annals of Neurology · 被引 18)
• Nonsense variants of STAG2 result in distinct congenital anomalies (2020 · Human Genome Variation · 被引 16)