Journal of Human Genetics

Article	Citations
Correction: Identification of cytotoxic T cells and their T cell receptor sequences targeting COVID-19 using MHC class I-binding peptides	114
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites	99
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases	53
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study	34
Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases	34
Imaging flow cytometry-based multiplex FISH for three IGH translocations in multiple myeloma	32
Hidden SVA retrotransposon insertion in BRCA1 revealed by nanopore targeted sequencing causes hereditary breast and ovarian cancer	32
GPD1 deficiency—a rare, overlooked cause of liver disease	31
Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns	31
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome	29
Acknowledgment to the reviewers in 2024	27
Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China	22
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)	22
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability	22
Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese family	21
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review	20
Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot	18
Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey	16
Diagnostic yield of trio exome sequencing as a first-tier test for identifying genetic causes of pregnancy loss	15
Evidence for nonhomologous meiotic coorientation in man	15
The genetic architecture of age at menarche and its causal effects on other traits	14
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle	13
Biallelic missense CEP55 variants cause prenatal MARCH syndrome	13
Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1	13
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals	13

Genetics of bipolar disorder: insights into its complex architecture and biology from common and rare variants	12
Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping	11
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review	11
Analysis of LIN28A variants in patients with Parkinson’s disease	11
Correction: Expectations, concerns, and attitudes regarding whole-genome sequencing studies: a survey of cancer patients, families, and the public in Japan	11
Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population	11
Facial clues to the photosensitive trichothiodystrophy phenotype in childhood	11
Challenges of secondary finding disclosure in genomic medicine in rare diseases: A nation-wide survey of Japanese facilities outsourcing comprehensive genetic testing	11
Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models	11
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation	10
Genome-wide association study of age at menarche in the Taiwan Biobank suggests NOL4 as a novel associated gene	10
Contribution of rare variants to heritability of a disease is much greater than conventionally estimated: modification of allele distribution model	9
Host genetic factors of COVID-19 susceptibility and disease severity in a Thai population	9
Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern	9
Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency	9
Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings	9
Association of mitochondrial DNA haplogroup and hearing impairment with aging in Japanese general population of the Iwaki Health Promotion Project	9
A Japanese case of ovarian mucinous adenocarcinoma with germline double variants of MSH2 and BRCA2	9
Hemizygous SMARCA1 variants cause X-linked intellectual disability	9
A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy	9
Assessment of whole-exome sequencing results in neurogenetic diseases	9
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene	9
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families	9
Mosaic deletions detected by genome sequencing in two families	8
Heritability of complex traits in sub-populations experiencing bottlenecks and growth	8
CDiP technology for reverse engineering of sporadic Alzheimer’s disease	8
Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy	8
Correlation between the risk of ovarian cancer and BRCA recurrent pathogenic variants in Japan	8
Correction: Comparison of two families with and without ataxia harboring novel variants in PRKCG	8
The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population	8
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing	8
Patterns and distribution of de novo mutations in multiplex Middle Eastern families	8
Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants	8
Concurrence of novel mutations causing Gilbert’s and Dubin–Johnson syndrome with poor clinical outcomes in a Han Chinese family	7
Somatic and mosaic HRAS mutations in pediatric malignant ectomesenchymoma	7
Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers	7
Identification of unique DNA methylation sites in Kabuki syndrome using whole genome bisulfite sequencing and targeted hybridization capture followed by enzymatic methylation sequencing	7
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population	7
ACAN biallelic variants in a girl with severe idiopathic short stature	7
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C	7
Enhanced multi-FISH analysis of immunophenotyped plasma cells by imaging flow cytometry	7
Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability	7
Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families	7
Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort	7
APOBEC mediated mutagenesis drives genomic heterogeneity in endometriosis	7
Heterogeneity of the Southeast Belarusian mitochondrial gene pool	7
Mitogenomics of the Koryaks and Evens of the northern coast of the Sea of Okhotsk	7
Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome	7
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata	7
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes	7

Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia	6
Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer	6
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia	6
A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms	6
A novel USP27X missense variant identified in an individual with intellectual disability	6
Translocation-specific polymerase chain reaction in preimplantation genetic testing for recurrent translocation carrier	6
An application supporting diagnosis for rare genetic diseases – UR-DBMS and Syndrome Finder –	6
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype	6
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome	6
Triple mosaic variants of PURA in a patient with multiple congenital anomalies	6
Correction to: Quantitative trait loci, G×E and G×G for glycemic traits: response to metformin and placebo in the Diabetes Prevention Program (DPP)	6
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	6
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis	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
Promoter hypermethylation of GALR1 acts as an early epigenetic susceptibility event in colorectal carcinogenesis	6
Prevalence of common aneuploidy in twin pregnancies	6
Molecular genetics of dystrophinopathy	6
Clinical and molecular characteristics of Korean patients with Kabuki syndrome	6
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome	6
Artificial intelligence in medical genomics	5
Association of the D-amino acid oxidase gene with methadone dose in heroin dependent patients under methadone maintenance treatment	5
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome	5
Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia	5
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population	5
Functional restoration of mouse Nf1 nonsense alleles in differentiated cultured neurons	5
Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome	5
Genotyping, characterization, and imputation of known and novel CYP2A6 structural variants using SNP array data	5
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism	5
Exploring the molecular and clinical spectrum of COVID-19-related acute necrotizing encephalopathy in three pediatric cases	5
Quantitative trait loci, G×E and G×G for glycemic traits: response to metformin and placebo in the Diabetes Prevention Program (DPP)	5
A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family	5
When ganglioside pathways go awry: congenital disorders and experimental insights	5
SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia	5
Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish	5
INTS11-related neurodevelopmental disorder: a case report and literature review	5
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-	4
Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay	4
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss	4
Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology	4
A Japanese case of familial malignant melanoma with germline CDK4 variant incidentally diagnosed by cancer genome profiling	4
A novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patient	4
Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1	4
Intron retention caused by a canonical splicing variant in SSR4-related congenital disorder of glycosylation	4
Profiling of runs of homozygosity from whole-genome sequence data in Japanese biobank	4
A copy number variant overlapping the 3ʹUTR of PLP1 causes spastic paraplegia	4
Whole-genome sequencing of 1029 Indian individuals reveals unique and rare structural variants	4
Genetic analysis of a Yayoi individual from the Doigahama site provides insights into the origins of immigrants to the Japanese Archipelago	4
Interaction between the GCKR rs1260326 variant and serum HDL cholesterol contributes to HOMA-β and ISIMatusda in the middle-aged T2D individuals	4
Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia	4
Genetic association mapping leveraging Gaussian processes	4
Public attitudes in the clinical application of genome editing on human embryos in Japan: a cross-sectional survey across multiple stakeholders	4
Integrative cancer genomics in the era of precision cancer medicine	4
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias	4
Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes	4
The prevalence of laterality defects in patients with congenital heart disease	4
Genetics of neurological and psychiatric disorders	4
The composition dynamics of transposable elements in human blastocysts	4
Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development	4
Refining the detection of complex rearrangements in 15q15.3 region involving the STRC gene in hereditary hearing loss patients	4
Adjusting for population stratification in polygenic risk score analyses: a guide for model specifications in the UK Biobank	4
Novel variants in DNAH9 are present in two infertile patients with severe asthenospermia	4
Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis	3
DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance	3
Diversity of thought: public perceptions of genetic testing across ethnic groups in the UK	3
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients	3
Demographic history of Ryukyu islanders at the southern part of the Japanese Archipelago inferred from whole-genome resequencing data	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
A step forward in genetic counselling: defining practice and ethics through the Genetic Counselling Practice Consortium in Hong Kong	3
Comparison of two families with and without ataxia harboring novel variants in PRKCG	3
Integrated analysis of probability of type 2 diabetes mellitus with polymorphisms and methylation of SLC30A8 gene: a nested case-control study	3
Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10	3
Comprehensive copy number analysis of Y chromosome-linked loci for detection of structural variations and diagnosis of male infertility	3
Correction to: The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation	3
Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome	3
FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals	3
Expectations, concerns, and attitudes regarding whole-genome sequencing studies: a survey of cancer patients, families, and the public in Japan	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
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations	3
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	3

Genome-wide association study of the risk of chronic kidney disease and kidney-related traits in the Japanese population: J-Kidney-Biobank	3
Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition	3
The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients	3
Expanding the phenotypic spectrum and clinical severity associated with WLS gene	3
Genetic inhibition of nicotinamide N-methyltransferase and prevention of alcohol-associated fatty liver in humans	3
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	3
Correction: Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction	3
Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese population	3
Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer	3
Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy	3
Identification of epistatic SNP combinations in rheumatoid arthritis using LAMPLINK and Japanese cohorts	3
Novel variants causing megalencephalic leukodystrophy in Sudanese families	3
Novel biallelic mutations in PADI6 in patients with early embryonic arrest	3
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features	2
Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings	2
CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy	2
Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle	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
Identification of novel FHL1 mutations associated with X-linked scapuloperoneal myopathy in unrelated Chinese patients	2
Detecting genomic mosaicism in “de novo” genetic epilepsy by amplicon-based deep sequencing	2
The usefulness of comprehensive genome profiling test in screening of Lynch syndrome independent of the conventional clinical screening or microsatellite instability tests	2
Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments	2
Investigating common mutations in ATP7B gene and the prevalence of Wilson’s disease in the Thai population using population-based genome-wide datasets	2
Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration	2
Fundamentals for predicting transcriptional regulations from DNA sequence patterns	2
Mediation role of DNA methylation in association between handgrip strength and cognitive function in monozygotic twins	2
Data-driven comparison of multiple high-dimensional single-cell expression profiles	2
Association of MPPED2 gene variant rs10767873 with kidney function and risk of cardiovascular disease in patients with hypertension	2
Potential drug targets for gastroesophageal reflux disease and Barrett’s esophagus identified through Mendelian randomization analysis	2
A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay	2
Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model	2
Clinical genetics of Charcot–Marie–Tooth disease	2
Significance of noninvasive prenatal testing using massively parallel sequencing in women with twin or vanishing twin pregnancies	2
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility	2
Correction: Genetics of autism spectrum disorders and future direction	2
A novel homozygous nonsense variant of STX2 underlies non-obstructive azoospermia in a consanguineous Chinese family	2
A novel homozygous missense mutation in the FASTKD2 gene leads to Lennox-Gastaut syndrome	2
Advances in AI and machine learning for predictive medicine	2
Exploring the relationship between admixture and genetic susceptibility to attention deficit hyperactivity disorder in two Latin American cohorts	2
In memory of Professor Ichiro Matsuda	2
Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G	2
GLUT9 as a potential drug target for chronic kidney disease: Drug target validation by a Mendelian randomization study	2
Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2	2
Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A	2
Assessment of different promoters in lentiviral vectors for expression of the N-acetyl-galactosamine-6-sulfate sulfatase gene	2
New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder	2
Whole exome sequencing and transcriptome analysis in two unrelated patients with novel SET mutations	2
Hematologic traits and primary biliary cholangitis: a Mendelian randomization study	2
Inferring intelligence of ancient people based on modern genomic studies	2
Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant	2
Genome analysis through image processing with deep learning models	2
Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies	2
Proteome-wide mendelian randomization identifies causal plasma proteins in venous thromboembolism development	2
A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review	2
A mediation analysis framework based on variance component to remove genetic confounding effect	2