Journal of Human Genetics

Article	Citations
Novel variants causing megalencephalic leukodystrophy in Sudanese families	94
A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient	83
Pathogenic variants in SHROOM3 associated with hemifacial microsomia	82
Concurrence of novel mutations causing Gilbert’s and Dubin–Johnson syndrome with poor clinical outcomes in a Han Chinese family	31
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites	31
The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation	31
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation	28
Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer	27
Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population	27
ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay	26
Mitogenomics of the Koryaks and Evens of the northern coast of the Sea of Okhotsk	26
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2	25
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population	25
Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction	24
Healthy lifestyle practice correlates with decreased obesity prevalence in individuals with high polygenic risk: TMM CommCohort study	22
Is legislation to prevent genetic discrimination necessary in Japan? An overview of the current policies and public attitudes	22
Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases	22
Genomic variants associated with age at diagnosis of childhood-onset type 1 diabetes	21
Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition	20
Modeling colorectal cancer evolution	19
A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies	18
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review	18
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2	17
Secondary findings in 622 Turkish clinical exome sequencing data	15
A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia	15

Identification of unique DNA methylation sites in Kabuki syndrome using whole genome bisulfite sequencing and targeted hybridization capture followed by enzymatic methylation sequencing	13
Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability	13
Integrated analysis of probability of type 2 diabetes mellitus with polymorphisms and methylation of SLC30A8 gene: a nested case-control study	12
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes	12
Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome	12
Novel biallelic mutations in PADI6 in patients with early embryonic arrest	12
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype	12
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases	12
Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10	11
Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients	11
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients	11
Acknowledgment to the reviewers in 2022	11
ACAN biallelic variants in a girl with severe idiopathic short stature	11
Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns	11
Genome-wide association study of the risk of chronic kidney disease and kidney-related traits in the Japanese population: J-Kidney-Biobank	10
A new association of PAX6 variation with Juvenile onset open angle glaucoma	10
Recontact: a survey of current practices and BRCA1/2 testing in Japan	9
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome	9
A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis	9
The challenge of diagnosing primary ciliary dyskinesia: a commentary on various causative genes and their pathogenic variants	9
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing	9
DOK7 CpG hypermethylation in blood leukocytes as an epigenetic biomarker for acquired tamoxifen resistant in breast cancer	9
A 3000-year-old founder variant in the DRC1 gene causes primary ciliary dyskinesia in Japan and Korea	9
Identification of a missense variant of MND1 in meiotic arrest and non-obstructive azoospermia	9
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata	9
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case	9
Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort	9
Lifestyles, genetics, and future perspectives on gastric cancer in east Asian populations	8
Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families	8
Diversity of thought: public perceptions of genetic testing across ethnic groups in the UK	8
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study	8
Cancer-associated miRNAs and their therapeutic potential	8
Genetic effects on gestational diabetes mellitus and their interactions with environmental factors among Japanese women	8
Genome-wide association study identifies APOE locus influencing plasma p-tau181 levels	8
Efficient HLA imputation from sequential SNPs data by transformer	8
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder	8
BCS1L mutations produce Fanconi syndrome with developmental disability	8
Association of Crohn’s disease and ulcerative colitis with the risk of neurological diseases: a large-scale Mendelian randomization study	8
Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers	8
Correction: Identification of cytotoxic T cells and their T cell receptor sequences targeting COVID-19 using MHC class I-binding peptides	8
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7	7
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13	7
Triple mosaic variants of PURA in a patient with multiple congenital anomalies	7
Systematic analyses of GWAS summary statistics from UK Biobank identified novel susceptibility loci and genes for upper gastrointestinal diseases	7
Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures	7
Imaging flow cytometry-based multiplex FISH for three IGH translocations in multiple myeloma	7
Chromosomal microarray analysis versus noninvasive prenatal testing in fetuses with increased nuchal translucency	7
Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy	7
Deciphering the phenotypic spectrum associated with MIA3-related odontochondrodysplasia	7
A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases	7

Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy	7
Clinical and genetic features of cystic fibrosis in Japan	7
Promoter hypermethylation of GALR1 acts as an early epigenetic susceptibility event in colorectal carcinogenesis	7
Molecular gene signature of circulating stromal/stem cells	7
Y-SNP Haplogroup Hierarchy Finder: a web tool for Y-SNP haplogroup assignment	6
Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies	6
FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals	6
Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk	6
Identification of epistatic SNP combinations in rheumatoid arthritis using LAMPLINK and Japanese cohorts	6
Comparison of two families with and without ataxia harboring novel variants in PRKCG	6
A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms	6
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene	6
An application supporting diagnosis for rare genetic diseases – UR-DBMS and Syndrome Finder –	6
Expanding the spectrum of HSPB8-related myopathy: a novel mutation causing atypical pediatric-onset axial and limb-girdle involvement with autophagy abnormalities and molecular dynamics studies	6
Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing	6
The distribution of regions of homozygosity (ROH) among consanguineous populations—implications for a routine genetic counseling service	6
Prevalence of common aneuploidy in twin pregnancies	6
Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic mapping and molecular cytogenetic methodologies	6
Clinical and molecular characteristics of Korean patients with Kabuki syndrome	6
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review	6
Prediction of protein structure and AI	6
Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy	6
Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases	6
Mendelian randomization study on the causal effects of systemic lupus erythematosus on major depressive disorder	6
Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history	5
A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor	5
Identity-by-descent analysis of CMTX3 links three families through a common founder	5
Genomic alterations in gynecological malignancies: histotype-associated driver mutations, molecular subtyping schemes, and tumorigenic mechanisms	5
Genetic variants and altered expression of SERPINF1 confer disease susceptibility in patients with otosclerosis	5
Correction: Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction	5
Looking back: three key lessons from 20 years of shaping Japanese genome research regulations	5
Further delineation of KIF21B-related neurodevelopmental disorders	5
From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R	5
Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer	5
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)	5
The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis	5
Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease	5
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome	5
Obituary Norio Niikawa, M.D., Ph.D., 1942–2022	5
Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification	5
Intellectual disability and abnormal cortical neuron phenotypes in patients with Bloom syndrome	5
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia	4
A presumed missense variant in the U2AF2 gene causes exon skipping in neurodevelopmental diseases	4
LncRNA-mRNA co-expression network revealing the regulatory roles of lncRNAs in melanogenesis in vitiligo	4
Correction to: Quantitative trait loci, G×E and G×G for glycemic traits: response to metformin and placebo in the Diabetes Prevention Program (DPP)	4
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability	4
Application of the PGT-M strategy using single sperm and/or affected embryos as probands for linkage analysis in males with hereditary tumor syndromes without family history	4
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations	4
Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder	4
The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease	4
Genetics of Alzheimer’s disease: an East Asian perspective	4
A step forward in genetic counselling: defining practice and ethics through the Genetic Counselling Practice Consortium in Hong Kong	4
First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective view	4
Identification of cytotoxic T cells and their T cell receptor sequences targeting COVID-19 using MHC class I-binding peptides	4
Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures	4
Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia	4
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome	4
Acknowledgment to the reviewers in 2024	4
Clinical risk management of breast, ovarian, pancreatic, and prostatic cancers for BRCA1/2 variant carriers in Japan	4
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis	4
Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot	4
Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China	4
Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia	4
JHG Young Scientist Award 2023	4
Translocation-specific polymerase chain reaction in preimplantation genetic testing for recurrent translocation carrier	4
Genome-wide association study identifies novel susceptibilities to adult moyamoya disease	4
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses	3
Polygenic risk scores for low-density lipoprotein cholesterol and familial hypercholesterolemia	3
Novel ITPA variants identified by whole genome sequencing and RNA sequencing	3
Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders	3
SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia	3
Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey	3
Online questionnaire on genetic testing for intractable diseases in Japan: response to and issues associated with the revised medical care act	3
The genetic architecture of age at menarche and its causal effects on other traits	3
Evidence for nonhomologous meiotic coorientation in man	3
Association of the D-amino acid oxidase gene with methadone dose in heroin dependent patients under methadone maintenance treatment	3
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis	3
The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey	3
A genotype-first analysis in a cohort of Mullerian anomaly	3
Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing	3

Correction to: Identification of OPN3 as associated with non-syndromic oligodontia in a Japanese population	3
Immunogenomics in personalized cancer treatments	3
Functional analysis of variants in DMD exon/intron 10 predicted to affect splicing	3
INTS11-related neurodevelopmental disorder: a case report and literature review	3
Illuminating the potential causality of serum level of matrix metalloproteinases and the occurrence of cardiovascular and cerebrovascular diseases: a Mendelian randomization study	3
Identification of novel single-nucleotide variants altering RNA splicing of PKD1 and PKD2	3
Exploring the molecular and clinical spectrum of COVID-19-related acute necrotizing encephalopathy in three pediatric cases	3
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies	3
Genetic background in late-onset sensorineural hearing loss patients	3
Genetics of bipolar disorder: insights into its complex architecture and biology from common and rare variants	3
Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes	3
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment	3
Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system	3
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati–Engelmann disease type II	3
A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family	3
New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder	3
Association of rare PPARGC1A variants with Parkinson’s disease risk	3
Phenotype puzzle: the role of novel LMBRD1 gene variant in Cbl deficiency causing Dyskeratosis Congenita-like clinical manifestations	2
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism	2
Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese population	2
Prevalence of FSH-R Asn680Ser and Ala307Thr receptor polymorphism and their correlation with ART outcomes among infertile Indian-Asian women-a prospective cohort study	2
Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1	2
Fetal hemoglobin-boosting haplotypes of BCL11A gene and HBS1L-MYB intergenic region in the prediction of clinical and hematological outcomes in a cohort of children with sickle cell anemia	2
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility	2
Facial clues to the photosensitive trichothiodystrophy phenotype in childhood	2
Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17	2
Whole-genome sequencing of 1029 Indian individuals reveals unique and rare structural variants	2
Dyssegmental dysplasia Rolland–Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients	2
A clinical and genetic study of SPG31 in Japan	2
Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome	2
Identification of putative regulatory single-nucleotide variants in NTN1 gene associated with NSCL/P	2
Admixture mapping of anthropometric traits in the Black Women’s Health Study: evidence of a shared African ancestry component with birth weight and type 2 diabetes	2
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield	2
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals	2
Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes	2
Expectations, concerns, and attitudes regarding whole-genome sequencing studies: a survey of cancer patients, families, and the public in Japan	2
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome	2
Intronic LINE-1 insertion in SLCO1B3 as a highly prevalent cause of rotor syndrome in East Asian population	2
Biallelic missense CEP55 variants cause prenatal MARCH syndrome	2
Genetics of autosomal mosaic chromosomal alteration (mCA)	2
A commentary on actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes	2
A novel case of autosomal-dominant cutis laxa caused by a de novo likely pathogenic variant in ALDH18A1: case report and literature review	2
Clinical genetics of Charcot–Marie–Tooth disease	2
Genetic medicine in companion diagnostics of germline BRCA testing of Japanese pancreatic cancer patients	2
Clinical and genetic spectrum of patients with IRF2BPL syndrome	2
Demographic history of Ryukyu islanders at the southern part of the Japanese Archipelago inferred from whole-genome resequencing data	2
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle	2
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population	2
Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model	2
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance	2
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities	2
Genotyping, characterization, and imputation of known and novel CYP2A6 structural variants using SNP array data	2
Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish	2
Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps	2
Precision management of gene-based tests not covered by the National Health Insurance system in Japan: a questionnaire-based study	2
Significance of noninvasive prenatal testing using massively parallel sequencing in women with twin or vanishing twin pregnancies	2
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review	2
A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia	2
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities	2