Kazuharu Misawa

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Associate Professor

Yokohama National University

Japan

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Dr. Kazuharu Misawa is an Associate Professor at Yokohama City University, Japan. His research primarily focuses on genomic sequencing and its application in understanding intellectual disabilities and developmental delays. Recent publications highlight his contributions to uncovering genetic variants associated with various syndromes and the diagnostic potential of nanopore sequencing technologies.

Recent Grants

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ながはまコホートおよび佐渡コホートのゲノム情報解析による、尿酸値関連変異の探索

Open Date: 2020-04-01

Close Date: 2023-03-01

Grant: Close

嘔吐するモデル動物スンクスの戻し交配で解明するPONVの遺伝学的機序

Open Date: 2019-04-01

Close Date: 2022-03-01

Grant: Close

尿酸値を対象とした遺伝要因および環境要因を交えた疾患リスク推定モデル構築の研究

Open Date: 2017-04-01

Close Date: 2020-03-01

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JAPAN

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Atsushi Fujita

Yokohama National University

JAPAN

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Kiyoshi Hayasaka

Emeritus and visiting Professor,

Yamagata University Faculty of Medicine

JAPAN

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Jichi Medical University

JAPAN

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Naomichi Matsumoto

Professor and Chair

Yokohama City University Graduate School of Medicine

JAPAN

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Eriko Koshimizu

Yokohama City University Graduate School of Medicine

JAPAN

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Kazuharu Misawa

Research Interests

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About

Recent Grants

Articles (20)

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.

Hemizygous SMARCA1 variants cause X-linked intellectual disability

Mosaic deletions detected by genome sequencing in two families

Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature.

Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling

Complete nanopore repeat sequencing of SCA27B (GAA-FGF14ataxia) in Japanese

Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability

Biallelic missense CEP55 variants cause prenatal MARCH syndrome.

Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies.

A simple method for estimating time-irreversible nucleotide substitution rates in the SARS-CoV-2 genome

Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation

A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association.

Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.

Biallelic structural variations within <i>FGF12</i> detected by long-read sequencing in epilepsy.

Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism

Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans.

A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8.

Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing.

Genotype Value Decomposition: Simple Methods for the Computation of Kernel Statistics

Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.

Collaborators (13)

Martin Frith

Tomoyasu Matsubara

Hiroshi Doi

Takeshi Mizuguchi

Toru Sengoku

Atsushi Fujita

Kiyoshi Hayasaka

Naomi Tsuchida

Mitsuhiro Kato

Yuri Uchiyama

Hitoshi Osaka

Naomichi Matsumoto

Eriko Koshimizu

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