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	101
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites	86
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2	84
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases	37
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study	33
Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases	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
Imaging flow cytometry-based multiplex FISH for three IGH translocations in multiple myeloma	29
Cancer-associated miRNAs and their therapeutic potential	27
Secondary findings in 622 Turkish clinical exome sequencing data	26
Looking back: three key lessons from 20 years of shaping Japanese genome research regulations	25
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome	25
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability	24
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)	23
Acknowledgment to the reviewers in 2024	23
Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot	22
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review	21
Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey	19
Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China	19
The genetic architecture of age at menarche and its causal effects on other traits	18
Evidence for nonhomologous meiotic coorientation in man	18
Biallelic missense CEP55 variants cause prenatal MARCH syndrome	17
Genetics of bipolar disorder: insights into its complex architecture and biology from common and rare variants	16
Facial clues to the photosensitive trichothiodystrophy phenotype in childhood	15

Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals	14
Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1	14
Contribution of rare variants to heritability of a disease is much greater than conventionally estimated: modification of allele distribution model	13
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle	13
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review	13
Cancer predisposition genes in Japanese children with rhabdomyosarcoma	13
Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping	12
Challenges of secondary finding disclosure in genomic medicine in rare diseases: A nation-wide survey of Japanese facilities outsourcing comprehensive genetic testing	12
Correction: Expectations, concerns, and attitudes regarding whole-genome sequencing studies: a survey of cancer patients, families, and the public in Japan	12
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation	11
Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models	11
Analysis of LIN28A variants in patients with Parkinson’s disease	11
Genome-wide association study of age at menarche in the Taiwan Biobank suggests NOL4 as a novel associated gene	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
Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern	10
Association of mitochondrial DNA haplogroup and hearing impairment with aging in Japanese general population of the Iwaki Health Promotion Project	10
Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings	10
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene	10
Host genetic factors of COVID-19 susceptibility and disease severity in a Thai population	10
Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency	10
A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy	10
Correction: Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study	9
Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy	9
Mosaic deletions detected by genome sequencing in two families	9
A Japanese case of ovarian mucinous adenocarcinoma with germline double variants of MSH2 and BRCA2	9
Assessment of whole-exome sequencing results in neurogenetic diseases	9
The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population	9
Correlation between the risk of ovarian cancer and BRCA recurrent pathogenic variants in Japan	9
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing	9
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families	9
The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing	8
CDiP technology for reverse engineering of sporadic Alzheimer’s disease	8
Application of targeted nanopore sequencing for the screening and determination of structural variants in patients with Lynch syndrome	8
Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers	8
Heritability of complex traits in sub-populations experiencing bottlenecks and growth	8
Patterns and distribution of de novo mutations in multiplex Middle Eastern families	8
Correction: Comparison of two families with and without ataxia harboring novel variants in PRKCG	8
Enhanced multi-FISH analysis of immunophenotyped plasma cells by imaging flow cytometry	8
Concurrence of novel mutations causing Gilbert’s and Dubin–Johnson syndrome with poor clinical outcomes in a Han Chinese family	8
Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants	8
APOBEC mediated mutagenesis drives genomic heterogeneity in endometriosis	8
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C	8
Mitogenomics of the Koryaks and Evens of the northern coast of the Sea of Okhotsk	8
Heterogeneity of the Southeast Belarusian mitochondrial gene pool	8
Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability	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
ACAN biallelic variants in a girl with severe idiopathic short stature	7
Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families	7
A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms	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

Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome	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
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome	7
Promoter hypermethylation of GALR1 acts as an early epigenetic susceptibility event in colorectal carcinogenesis	7
Correction to: Quantitative trait loci, G×E and G×G for glycemic traits: response to metformin and placebo in the Diabetes Prevention Program (DPP)	7
A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia	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
Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer	7
Triple mosaic variants of PURA in a patient with multiple congenital anomalies	7
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype	7
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
Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia	6
Prevalence of common aneuploidy in twin pregnancies	6
Clinical and molecular characteristics of Korean patients with Kabuki syndrome	6
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome	6
Exploring the molecular and clinical spectrum of COVID-19-related acute necrotizing encephalopathy in three pediatric cases	6
The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey	6
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia	6
Translocation-specific polymerase chain reaction in preimplantation genetic testing for recurrent translocation carrier	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
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis	6
Genotyping, characterization, and imputation of known and novel CYP2A6 structural variants using SNP array data	6
SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia	6
Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia	6
An application supporting diagnosis for rare genetic diseases – UR-DBMS and Syndrome Finder –	6
Genomic alterations in gynecological malignancies: histotype-associated driver mutations, molecular subtyping schemes, and tumorigenic mechanisms	6
Association of the D-amino acid oxidase gene with methadone dose in heroin dependent patients under methadone maintenance treatment	6
INTS11-related neurodevelopmental disorder: a case report and literature review	6
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population	5
Novel variants in DNAH9 are present in two infertile patients with severe asthenospermia	5
A copy number variant overlapping the 3ʹUTR of PLP1 causes spastic paraplegia	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-	5
Whole-genome sequencing of 1029 Indian individuals reveals unique and rare structural variants	5
Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome	5
A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family	5
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome	5
Profiling of runs of homozygosity from whole-genome sequence data in Japanese biobank	5
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias	5
Genomic landscape of hepatocarcinogenesis	5
Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay	5
Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish	5
Quantitative trait loci, G×E and G×G for glycemic traits: response to metformin and placebo in the Diabetes Prevention Program (DPP)	5
Phenotypic implications of pathogenic variant types in Pompe disease	5
Functional genomics for breast cancer drug target discovery	5
Functional restoration of mouse Nf1 nonsense alleles in differentiated cultured neurons	5
Artificial intelligence in medical genomics	5
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism	5
Integrative cancer genomics in the era of precision cancer medicine	4
Genetic association mapping leveraging Gaussian processes	4
Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology	4
Intron retention caused by a canonical splicing variant in SSR4-related congenital disorder of glycosylation	4
Interaction between the GCKR rs1260326 variant and serum HDL cholesterol contributes to HOMA-β and ISIMatusda in the middle-aged T2D individuals	4
Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development	4
A Japanese case of familial malignant melanoma with germline CDK4 variant incidentally diagnosed by cancer genome profiling	4
Public attitudes in the clinical application of genome editing on human embryos in Japan: a cross-sectional survey across multiple stakeholders	4
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss	4
Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes	4
Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1	4
The composition dynamics of transposable elements in human blastocysts	4
Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis	4
Adjusting for population stratification in polygenic risk score analyses: a guide for model specifications in the UK Biobank	4
Genetic analysis of a Yayoi individual from the Doigahama site provides insights into the origins of immigrants to the Japanese Archipelago	4
RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function	4
A novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patient	4
The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients	4
Expanding the phenotypic spectrum and clinical severity associated with WLS gene	4
DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance	4
Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification	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
FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals	3
Novel variants causing megalencephalic leukodystrophy in Sudanese families	3
Novel biallelic mutations in PADI6 in patients with early embryonic arrest	3
Genetic inhibition of nicotinamide N-methyltransferase and prevention of alcohol-associated fatty liver in humans	3
Genetics of neurological and psychiatric disorders	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
Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome	3
Genetics of autosomal mosaic chromosomal alteration (mCA)	3
A genotype-first analysis in a cohort of Mullerian anomaly	3
A novel case of autosomal-dominant cutis laxa caused by a de novo likely pathogenic variant in ALDH18A1: case report and literature review	3

C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations	3
Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy	3
Integrated analysis of probability of type 2 diabetes mellitus with polymorphisms and methylation of SLC30A8 gene: a nested case-control study	3
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review	3
Diversity of thought: public perceptions of genetic testing across ethnic groups in the UK	3
Comprehensive copy number analysis of Y chromosome-linked loci for detection of structural variations and diagnosis of male infertility	3
Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10	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
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
A step forward in genetic counselling: defining practice and ethics through the Genetic Counselling Practice Consortium in Hong Kong	3
Identification of epistatic SNP combinations in rheumatoid arthritis using LAMPLINK and Japanese cohorts	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
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients	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
Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia	3
Comparison of two families with and without ataxia harboring novel variants in PRKCG	3
Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer	3
Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model	3
New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder	2
Clinical genetics of Charcot–Marie–Tooth disease	2
CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy	2
Detecting genomic mosaicism in “de novo” genetic epilepsy by amplicon-based deep sequencing	2
Advances in AI and machine learning for predictive medicine	2
Whole exome sequencing and transcriptome analysis in two unrelated patients with novel SET mutations	2
Correction: Genetics of autism spectrum disorders and future direction	2
The association between RAPSN methylation in peripheral blood and breast cancer in the Chinese population	2
A novel homozygous missense mutation in the FASTKD2 gene leads to Lennox-Gastaut syndrome	2
GLUT9 as a potential drug target for chronic kidney disease: Drug target validation by a Mendelian randomization study	2
Fundamentals for predicting transcriptional regulations from DNA sequence patterns	2
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features	2
Polygenic risk scores for low-density lipoprotein cholesterol and familial hypercholesterolemia	2
Demographic history of Ryukyu islanders at the southern part of the Japanese Archipelago inferred from whole-genome resequencing data	2
Expectations, concerns, and attitudes regarding whole-genome sequencing studies: a survey of cancer patients, families, and the public in Japan	2
Identification of novel FHL1 mutations associated with X-linked scapuloperoneal myopathy in unrelated Chinese patients	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
Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies	2
Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration	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
Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings	2
Genome analysis through image processing with deep learning models	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
Exploring the relationship between admixture and genetic susceptibility to attention deficit hyperactivity disorder in two Latin American cohorts	2
A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review	2
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility	2
Significance of noninvasive prenatal testing using massively parallel sequencing in women with twin or vanishing twin pregnancies	2
Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G	2
Association of MPPED2 gene variant rs10767873 with kidney function and risk of cardiovascular disease in patients with hypertension	2
A mediation analysis framework based on variance component to remove genetic confounding effect	2
Proteome-wide mendelian randomization identifies causal plasma proteins in venous thromboembolism development	2
Hematologic traits and primary biliary cholangitis: a Mendelian randomization study	2
Potential drug targets for gastroesophageal reflux disease and Barrett’s esophagus identified through Mendelian randomization analysis	2
Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments	2
A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay	2
A novel homozygous nonsense variant of STX2 underlies non-obstructive azoospermia in a consanguineous Chinese family	2
Data-driven comparison of multiple high-dimensional single-cell expression profiles	2
Mediation role of DNA methylation in association between handgrip strength and cognitive function in monozygotic twins	2
Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing	2