Collection 13 March 2019

Editor’s Selection on Splicing Variants and Copy Number Variation

Human Genome Variation is delighted to present its first Collection for the March 2019 issue.
Coordinated by the Editor-in-Chief, Professor Katsushi Tokunaga, this Collection features the latest Data Reports and Articles on the identifications of disease-causing splicing variants and copy number variations.

Data Report

A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities
- Toshiyuki Seto
- Toshiyuki Yamamoto
- Haruo Shintaku
Data ReportOpen Access16 Mar 2017 Human Genome Variation
Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension
- Hironori Hara
- Norifumi Takeda
- Issei Komuro
Data ReportOpen Access20 Apr 2017 Human Genome Variation
Small copy-number variations involving genes of the FGF pathway in differences in sex development
- Andrew Hagan
- Ina E Amarillo
Data ReportOpen Access13 Apr 2017 Human Genome Variation
Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis
- Nana Okamoto
- Tomohiro Kohmoto
- Issei Imoto
Data ReportOpen Access17 Aug 2017 Human Genome Variation
Characteristics of rare and private deletions identified in phenotypically normal individuals
- Keiko Shimojima
- Toshiyuki Yamamoto
Data ReportOpen Access14 Sep 2017 Human Genome Variation
An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome
- Yuko Katoh-Fukui
- Shuichi Yatsuga
- Maki Fukami
Data ReportOpen Access8 Mar 2018 Human Genome Variation

Article

Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease
- Yoshiro Morimoto
- Shinji Ono
- Naohiro Kurotaki
ArticleOpen Access27 Jul 2017 Human Genome Variation

Quick links

Editor’s Selection on Splicing Variants and Copy Number Variation

Data Report

A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities

Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension

Small copy-number variations involving genes of the FGF pathway in differences in sex development

Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis

Characteristics of rare and private deletions identified in phenotypically normal individuals

An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome

Article

Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease

Search

Quick links