A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family

Human Genome Variation (2017) 4, ; doi:10.1038/hgv.2017.54


Three brothers with a nonsense mutation in KAT6Acaused by parental germline mosaicism

Human Genome Variation (2017) 4, ; doi:10.1038/hgv.2017.45


Combined approach for finding susceptibility genes in DISH/chondrocalcinosis families: whole-genome-wide linkage and IBS/IBD studies

Human Genome Variation (2017) 4, ; doi:10.1038/hgv.2017.41


Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations

Human Genome Variation (2017) 4, ; doi:10.1038/hgv.2017.38


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

Human Genome Variation (2017) 4, ; doi:10.1038/hgv.2017.32


The detection of a novel insertion mutation in exon 2 of the MEFV gene associated with familial mediterranean fever in a moroccan family

Human Genome Variation (2017) 4, ; doi:10.1038/hgv.2017.23


Germline and somatic genetic changes in multicentric tumors obtained from a patient with multiple endocrine neoplasia type 1

Human Genome Variation (2017) 4, ; doi:10.1038/hgv.2017.13


Comprehensive genetic exploration of selective tooth agenesis of mandibular incisors by exome sequencing

Human Genome Variation (2017) 4, ; doi:10.1038/hgv.2017.5


Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari I malformation

Human Genome Variation (2016) 3, ; doi:10.1038/hgv.2016.42

CFTR F508delをホモ接合で持つ762人においてCFTRの詳細な塩基配列再決定から嚢胞性線維症の疾患形質に関連する非コードバリアントのクラスターが明らかになる

Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits

Human Genome Variation (2016) 3, ; doi:10.1038/hgv.2016.38


Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole

Human Genome Variation (2016) 3, ; doi:10.1038/hgv.2016.27

次世代塩基配列決定データとXHMM(eXome Hidden Markov Model)を用いてゲノムのコピー数異常を検出する取り組み:エキソームにもとづく病気の診断法

Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach

Human Genome Variation (2016) 3, ; doi:10.1038/hgv.2016.25


A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder

Human Genome Variation (2016) 3, ; doi:10.1038/hgv.2016.23


Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome

Human Genome Variation (2016) 3, ; doi:10.1038/hgv.2016.18


Development of a prediction system for anti-tuberculosis drug-induced liver injury in Japanese patients

Human Genome Variation (2016) 3, ; doi:10.1038/hgv.2016.14


Characterization of a novel large deletion caused by double-stranded breaks in 6-bp microhomologous sequences of intron 11 and 12 of the F13A1 gene

Human Genome Variation (2016) 3, ; doi:10.1038/hgv.2015.59


Genotype–phenotype correlation of PAX6 gene mutations in aniridia

Human Genome Variation (2016) 3, ; doi:10.1038/hgv.2015.52


Identification of ITPA on chromosome 20 as a susceptibility gene for young-onset tuberculosis

Human Genome Variation (2016) 3, ; doi:10.1038/hgv.2015.67


Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals

Human Genome Variation (2016) 3, ; doi:10.1038/hgv.2015.60


Phenotypic differences of patients with fibrodysplasia ossificans progressive due to p.Arg258Ser variants of ACVR1

Human Genome Variation (2015) 2, ; doi:10.1038/hgv.2015.55


Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia

Human Genome Variation (2015) 2, ; doi:10.1038/hgv.2015.40


A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family

Human Genome Variation (2015) 2, ; doi:10.1038/hgv.2015.38


CD14 and IL18 gene polymorphisms associated with colorectal cancer subsite risks among atomic bomb survivors

Human Genome Variation (2015) 2, ; doi:10.1038/hgv.2015.35


Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals

Human Genome Variation (2015) 2, ; doi:10.1038/hgv.2015.24


HLA-A*02:06 and PTGER3 polymorphism exert additive effects in cold medicine-related Stevens–Johnson syndrome with severe ocular complications

Human Genome Variation (2015) 2, ; doi:10.1038/hgv.2015.23

常染色体優性ミオパチーの中国人大家系におけるMYH7遺伝子のde novo変異

A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy

Human Genome Variation (2015) 2, ; doi:10.1038/hgv.2015.22


Interaction of genetic markers associated with serum alkaline phosphatase levels in the Japanese population

Human Genome Variation (2015) 2, ; doi:10.1038/hgv.2015.19


Pathway activation strength is a novel independent prognostic biomarker for cetuximab sensitivity in colorectal cancer patients

Human Genome Variation (2015) 2, 15009; doi:10.1038/hgv.2015.9


DGCR6 at the proximal part of the DiGeorge critical region is involved in conotruncal heart defects

Human Genome Variation (2015) 2, 15004; doi:10.1038/hgv.2015.4

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Human Genome Variation ISSN 2054-345X(online)