Journal of Human Genetics

Article	Citations
Diversity of thought: public perceptions of genetic testing across ethnic groups in the UK	75
Novel variants causing megalencephalic leukodystrophy in Sudanese families	65
Pathogenic variants in SHROOM3 associated with hemifacial microsomia	55
A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient	28
Chromosomal microarray analysis versus noninvasive prenatal testing in fetuses with increased nuchal translucency	27
Autosomal dominant familial acanthosis nigricans caused by a C-terminal nonsense mutation of FGFR3	25
Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients	25
Concurrence of novel mutations causing Gilbert’s and Dubin–Johnson syndrome with poor clinical outcomes in a Han Chinese family	24
A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia	23
Clinical and genetic features of cystic fibrosis in Japan	22
Integrated analysis of probability of type 2 diabetes mellitus with polymorphisms and methylation of SLC30A8 gene: a nested case-control study	22
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases	20
Genome-wide association study identifies APOE locus influencing plasma p-tau181 levels	20
Acknowledgment to the reviewers in 2022	20
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study	19
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome	19
DOK7 CpG hypermethylation in blood leukocytes as an epigenetic biomarker for acquired tamoxifen resistant in breast cancer	18
Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10	17
Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns	17
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy	17
Efficient HLA imputation from sequential SNPs data by transformer	14
Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers	14
A new association of PAX6 variation with Juvenile onset open angle glaucoma	14
Imaging flow cytometry-based multiplex FISH for three IGH translocations in multiple myeloma	13
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder	12

Y chromosome analysis for common surnames in the Japanese male population	12
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients	10
Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases	10
Genomic variants associated with age at diagnosis of childhood-onset type 1 diabetes	10
Identification of a missense variant of MND1 in meiotic arrest and non-obstructive azoospermia	9
Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition	9
Identification of unique DNA methylation sites in Kabuki syndrome using whole genome bisulfite sequencing and targeted hybridization capture followed by enzymatic methylation sequencing	9
Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome	9
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7	9
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2	9
A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis	9
Association of Crohn’s disease and ulcerative colitis with the risk of neurological diseases: a large-scale Mendelian randomization study	9
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata	9
BCS1L mutations produce Fanconi syndrome with developmental disability	8
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review	8
Cancer-associated miRNAs and their therapeutic potential	8
Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability	8
Novel biallelic mutations in PADI6 in patients with early embryonic arrest	8
Recontact: a survey of current practices and BRCA1/2 testing in Japan	8
Lifestyles, genetics, and future perspectives on gastric cancer in east Asian populations	8
Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort	8
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes	8
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing	8
Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population	8
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype	8
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation	7
Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients	7
Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families	7
ACAN biallelic variants in a girl with severe idiopathic short stature	7
Mitogenomics of the Koryaks and Evens of the northern coast of the Sea of Okhotsk	7
A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies	7
Genome-wide association study of the risk of chronic kidney disease and kidney-related traits in the Japanese population: J-Kidney-Biobank	7
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case	7
A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases	7
Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer	7
Modeling colorectal cancer evolution	7
Correction: Identification of cytotoxic T cells and their T cell receptor sequences targeting COVID-19 using MHC class I-binding peptides	7
The challenge of diagnosing primary ciliary dyskinesia: a commentary on various causative genes and their pathogenic variants	7
ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay	7
Healthy lifestyle practice correlates with decreased obesity prevalence in individuals with high polygenic risk: TMM CommCohort study	7
Secondary findings in 622 Turkish clinical exome sequencing data	7
Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures	7
Identification of epistatic SNP combinations in rheumatoid arthritis using LAMPLINK and Japanese cohorts	6
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy	6
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	6
A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor	6
An application supporting diagnosis for rare genetic diseases – UR-DBMS and Syndrome Finder –	6
Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease	6
The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation	6
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)	6

Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13	6
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population	6
Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction	6
Prevalence of common aneuploidy in twin pregnancies	6
The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis	6
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome	6
Prediction of protein structure and AI	6
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis	6
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites	6
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2	6
Is legislation to prevent genetic discrimination necessary in Japan? An overview of the current policies and public attitudes	6
Intellectual disability and abnormal cortical neuron phenotypes in patients with Bloom syndrome	6
Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer	6
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	6
Genomic alterations in gynecological malignancies: histotype-associated driver mutations, molecular subtyping schemes, and tumorigenic mechanisms	6
Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia	6
A 3000-year-old founder variant in the DRC1 gene causes primary ciliary dyskinesia in Japan and Korea	6
Triple mosaic variants of PURA in a patient with multiple congenital anomalies	5
Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy	5
Identity-by-descent analysis of CMTX3 links three families through a common founder	5
Looking back: three key lessons from 20 years of shaping Japanese genome research regulations	5
Comparison of two families with and without ataxia harboring novel variants in PRKCG	5
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene	5
Further delineation of KIF21B-related neurodevelopmental disorders	5
Y-SNP Haplogroup Hierarchy Finder: a web tool for Y-SNP haplogroup assignment	5
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability	5
Systematic analyses of GWAS summary statistics from UK Biobank identified novel susceptibility loci and genes for upper gastrointestinal diseases	5
Genetics of Alzheimer’s disease: an East Asian perspective	5
LncRNA-mRNA co-expression network revealing the regulatory roles of lncRNAs in melanogenesis in vitiligo	5
Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies	5
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
Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk	5
JHG Young Scientist Award 2023	5
Obituary Norio Niikawa, M.D., Ph.D., 1942–2022	5
Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases	5
Clinical risk management of breast, ovarian, pancreatic, and prostatic cancers for BRCA1/2 variant carriers in Japan	5
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing	4
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review	4
Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot	4
Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia	4
Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic mapping and molecular cytogenetic methodologies	4
Genetic variants and altered expression of SERPINF1 confer disease susceptibility in patients with otosclerosis	4
Clinical and molecular characteristics of Korean patients with Kabuki syndrome	4
FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals	4
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations	4
Mendelian randomization study on the causal effects of systemic lupus erythematosus on major depressive disorder	4
Promoter hypermethylation of GALR1 acts as an early epigenetic susceptibility event in colorectal carcinogenesis	4
Association of rare PPARGC1A variants with Parkinson’s disease risk	4
A presumed missense variant in the U2AF2 gene causes exon skipping in neurodevelopmental diseases	4
Postzygotic inactivating mutation of KIF13A located at chromosome 6p22.3 in a patient with a novel mosaic neuroectodermal syndrome	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
A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms	4
Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing	4
Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification	4
Correction: Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction	4
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism	3
Genetic association of MMP14 promoter variants and their functional significance in gallbladder cancer pathogenesis	3
Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China	3
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	3
Genome-wide association study identifies novel susceptibilities to adult moyamoya disease	3
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	3
SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia	3
A clinical and genetic study of SPG31 in Japan	3
Illuminating the potential causality of serum level of matrix metalloproteinases and the occurrence of cardiovascular and cerebrovascular diseases: a Mendelian randomization study	3
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities	3
The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey	3
A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy	3
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle	3
Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEA	3
Novel ITPA variants identified by whole genome sequencing and RNA sequencing	3
A genotype-first analysis in a cohort of Mullerian anomaly	3
Correction to: Quantitative trait loci, G×E and G×G for glycemic traits: response to metformin and placebo in the Diabetes Prevention Program (DPP)	3
From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R	3
A Nepalese family with an REEP2 mutation: clinical and genetic study	3
Evidence for nonhomologous meiotic coorientation in man	3
Dyssegmental dysplasia Rolland–Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients	3
Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing	3
Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system	3
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	3
Association of the D-amino acid oxidase gene with methadone dose in heroin dependent patients under methadone maintenance treatment	3

A commentary on actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes	3
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	3
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance	3
First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective view	3
Identification of cytotoxic T cells and their T cell receptor sequences targeting COVID-19 using MHC class I-binding peptides	3
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia	3
The distribution of regions of homozygosity (ROH) among consanguineous populations—implications for a routine genetic counseling service	3
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility	3
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities	3
Identification of putative regulatory single-nucleotide variants in NTN1 gene associated with NSCL/P	3
A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family	3
Identification of novel single-nucleotide variants altering RNA splicing of PKD1 and PKD2	3
Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1	3
Exploring the molecular and clinical spectrum of COVID-19-related acute necrotizing encephalopathy in three pediatric cases	2
Spinal cord involvement and paroxysmal events in “Infantile Onset Transient Hypomyelination” due to TMEM63A mutation	2
Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese population	2
Correction to: Identification of OPN3 as associated with non-syndromic oligodontia in a Japanese population	2
Immunogenomics in personalized cancer treatments	2
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield	2
Functional analysis of variants in DMD exon/intron 10 predicted to affect splicing	2
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment	2
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies	2
Genotyping, characterization, and imputation of known and novel CYP2A6 structural variants using SNP array data	2
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome	2
Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey	2
Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature	2
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population	2
New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder	2
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals	2
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses	2
Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17	2
Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model	2
Polygenic risk scores for low-density lipoprotein cholesterol and familial hypercholesterolemia	2
Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome	2
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review	2
Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes	2
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati–Engelmann disease type II	2
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis	2
Genetic medicine in companion diagnostics of germline BRCA testing of Japanese pancreatic cancer patients	2
Genetics of bipolar disorder: insights into its complex architecture and biology from common and rare variants	2
The genetic architecture of age at menarche and its causal effects on other traits	2
Genetics of autosomal mosaic chromosomal alteration (mCA)	2
Online questionnaire on genetic testing for intractable diseases in Japan: response to and issues associated with the revised medical care act	2
Biallelic missense CEP55 variants cause prenatal MARCH syndrome	2
Genetic background in late-onset sensorineural hearing loss patients	2
Expectations, concerns, and attitudes regarding whole-genome sequencing studies: a survey of cancer patients, families, and the public in Japan	2
Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish	2
Demographic history of Ryukyu islanders at the southern part of the Japanese Archipelago inferred from whole-genome resequencing data	2
INTS11-related neurodevelopmental disorder: a case report and literature review	2
Intronic LINE-1 insertion in SLCO1B3 as a highly prevalent cause of rotor syndrome in East Asian population	2
Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps	2
Clinical genetics of Charcot–Marie–Tooth disease	2
Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes	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
Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders	2
Facial clues to the photosensitive trichothiodystrophy phenotype in childhood	2