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	120
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites	105
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases	60
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study	34
Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns	33
Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases	33
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	31
GPD1 deficiency—a rare, overlooked cause of liver disease	30
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome	27
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)	22
Acknowledgment to the reviewers in 2024	22
Identification of an IL17RC missense variant in a Chinese family with multiple osteochondromas and ankylosing spondylitis	22
Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China	21
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability	20
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review	18
Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot	16
Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey	15
Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese family	15
Evidence for nonhomologous meiotic coorientation in man	14
The genetic architecture of age at menarche and its causal effects on other traits	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	13
Biallelic missense CEP55 variants cause prenatal MARCH syndrome	13
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review	13
Diagnostic yield of trio exome sequencing as a first-tier test for identifying genetic causes of pregnancy loss	12

Facial clues to the photosensitive trichothiodystrophy phenotype in childhood	11
Analysis of LIN28A variants in patients with Parkinson’s disease	11
Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping	11
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals	11
Correction: Expectations, concerns, and attitudes regarding whole-genome sequencing studies: a survey of cancer patients, families, and the public in Japan	11
Genetics of bipolar disorder: insights into its complex architecture and biology from common and rare variants	11
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle	11
Challenges of secondary finding disclosure in genomic medicine in rare diseases: A nation-wide survey of Japanese facilities outsourcing comprehensive genetic testing	11
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation	10
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	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
A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy	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
Unstable FGF14 GAA repeat expansions in Indian ataxia patients: a broader phenotype and involvement of modifier loci?	9
Host genetic factors of COVID-19 susceptibility and disease severity in a Thai population	9
A Japanese case of ovarian mucinous adenocarcinoma with germline double variants of MSH2 and BRCA2	9
Association of mitochondrial DNA haplogroup and hearing impairment with aging in Japanese general population of the Iwaki Health Promotion Project	9
Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models	9
Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings	9
Hemizygous SMARCA1 variants cause X-linked intellectual disability	9
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene	9
Assessment of whole-exome sequencing results in neurogenetic diseases	8
Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy	8
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing	8
Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants	8
Polygenic risk score as a tool to predict gestational weight gain and gestational diabetes among pregnant women in Taiwan	8
Mosaic deletions detected by genome sequencing in two families	8
The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population	8
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families	8
Correlation between the risk of ovarian cancer and BRCA recurrent pathogenic variants in Japan	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	7
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C	7
Mitogenomics of the Koryaks and Evens of the northern coast of the Sea of Okhotsk	7
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
Correction: Comparison of two families with and without ataxia harboring novel variants in PRKCG	7
Heterogeneity of the Southeast Belarusian mitochondrial gene pool	7
CDiP technology for reverse engineering of sporadic Alzheimer’s disease	7
ACAN biallelic variants in a girl with severe idiopathic short stature	7
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata	7
Somatic and mosaic HRAS mutations in pediatric malignant ectomesenchymoma	7
APOBEC mediated mutagenesis drives genomic heterogeneity in endometriosis	7
Enhanced multi-FISH analysis of immunophenotyped plasma cells by imaging flow cytometry	7
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome	7
Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome	7
Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers	7
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia	6

Prevalence of common aneuploidy in twin pregnancies	6
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype	6
A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms	6
Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer	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
Translocation-specific polymerase chain reaction in preimplantation genetic testing for recurrent translocation carrier	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
Concurrence of novel mutations causing Gilbert’s and Dubin–Johnson syndrome with poor clinical outcomes in a Han Chinese family	6
Promoter hypermethylation of GALR1 acts as an early epigenetic susceptibility event in colorectal carcinogenesis	6
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes	6
Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia	6
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome	6
Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort	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
Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families	6
An application supporting diagnosis for rare genetic diseases – UR-DBMS and Syndrome Finder –	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	5
Molecular genetics of dystrophinopathy	5
Clinical and molecular characteristics of Korean patients with Kabuki 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
Triple mosaic variants of PURA in a patient with multiple congenital anomalies	5
Novel glycan-related biomarker discovery by total glycomic and focused protein glycomic analyses	5
Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia	5
SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia	5
A novel USP27X missense variant identified in an individual with intellectual disability	5
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis	5
When ganglioside pathways go awry: congenital disorders and experimental insights	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
The composition dynamics of transposable elements in human blastocysts	4
Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes	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
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
Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish	4
INTS11-related neurodevelopmental disorder: a case report and literature review	4
Quantitative trait loci, G×E and G×G for glycemic traits: response to metformin and placebo in the Diabetes Prevention Program (DPP)	4
Genetic association mapping leveraging Gaussian processes	4
A Japanese case of familial malignant melanoma with germline CDK4 variant incidentally diagnosed by cancer genome profiling	4
The prevalence of laterality defects in patients with congenital heart disease	4
Adjusting for population stratification in polygenic risk score analyses: a guide for model specifications in the UK Biobank	4
Refining the detection of complex rearrangements in 15q15.3 region involving the STRC gene in hereditary hearing loss patients	4
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias	4
Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay	4
Exploring the molecular and clinical spectrum of COVID-19-related acute necrotizing encephalopathy in three pediatric cases	4
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population	4
Novel variants in DNAH9 are present in two infertile patients with severe asthenospermia	4
Intron retention caused by a canonical splicing variant in SSR4-related congenital disorder of glycosylation	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
Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology	4
Genetic analysis of a Yayoi individual from the Doigahama site provides insights into the origins of immigrants to the Japanese Archipelago	4
Functional restoration of mouse Nf1 nonsense alleles in differentiated cultured neurons	4
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
Artificial intelligence in medical genomics	4
A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family	4
Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome	4
Whole-genome sequencing of 1029 Indian individuals reveals unique and rare structural variants	4
Diversity of thought: public perceptions of genetic testing across ethnic groups in the UK	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
Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy	3
FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals	3
Genome-wide association study of the risk of chronic kidney disease and kidney-related traits in the Japanese population: J-Kidney-Biobank	3
Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10	3
Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome	3
Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis	3
Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia	3
DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance	3
Novel variants causing megalencephalic leukodystrophy in Sudanese families	3
Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer	3
Identification of epistatic SNP combinations in rheumatoid arthritis using LAMPLINK and Japanese cohorts	3
Correction: Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction	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
Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development	3
Expanding the phenotypic spectrum and clinical severity associated with WLS gene	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
Interaction between the GCKR rs1260326 variant and serum HDL cholesterol contributes to HOMA-β and ISIMatusda in the middle-aged T2D individuals	3
Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition	3

Integrated analysis of probability of type 2 diabetes mellitus with polymorphisms and methylation of SLC30A8 gene: a nested case-control study	3
Comparison of two families with and without ataxia harboring novel variants in PRKCG	3
A step forward in genetic counselling: defining practice and ethics through the Genetic Counselling Practice Consortium in Hong Kong	3
MYH2-associated myopathy caused by novel compound heterozygous mutations: a case report and literature review	3
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients	3
The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients	3
Genetic inhibition of nicotinamide N-methyltransferase and prevention of alcohol-associated fatty liver in humans	3
Genetics of neurological and psychiatric disorders	3
Novel biallelic mutations in PADI6 in patients with early embryonic arrest	3
Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G	2
A novel homozygous missense mutation in the FASTKD2 gene leads to Lennox-Gastaut syndrome	2
Exploring the relationship between admixture and genetic susceptibility to attention deficit hyperactivity disorder in two Latin American cohorts	2
Hematologic traits and primary biliary cholangitis: a Mendelian randomization study	2
Detecting genomic mosaicism in “de novo” genetic epilepsy by amplicon-based deep sequencing	2
Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings	2
Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments	2
CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy	2
Identification of novel FHL1 mutations associated with X-linked scapuloperoneal myopathy in unrelated Chinese patients	2
Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model	2
Expectations, concerns, and attitudes regarding whole-genome sequencing studies: a survey of cancer patients, families, and the public in Japan	2
Genotypic and phenotypic spectrum of anophthalmia/microphthalmia in families from Khyber Pakhtunkhwa, Pakistan	2
Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese population	2
Potential drug targets for gastroesophageal reflux disease and Barrett’s esophagus identified through Mendelian randomization analysis	2
Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A	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
Genome analysis through image processing with deep learning models	2
Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration	2
GLUT9 as a potential drug target for chronic kidney disease: Drug target validation by a Mendelian randomization study	2
Correction: Genetics of autism spectrum disorders and future direction	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
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
Fundamentals for predicting transcriptional regulations from DNA sequence patterns	2
Assessment of different promoters in lentiviral vectors for expression of the N-acetyl-galactosamine-6-sulfate sulfatase gene	2
Demographic history of Ryukyu islanders at the southern part of the Japanese Archipelago inferred from whole-genome resequencing data	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
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility	2
Data-driven comparison of multiple high-dimensional single-cell expression profiles	2
Advances in AI and machine learning for predictive medicine	2
Association of MPPED2 gene variant rs10767873 with kidney function and risk of cardiovascular disease in patients with hypertension	2
In memory of Professor Ichiro Matsuda	2
The usefulness of comprehensive genome profiling test in screening of Lynch syndrome independent of the conventional clinical screening or microsatellite instability tests	2
Mediation role of DNA methylation in association between handgrip strength and cognitive function in monozygotic twins	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
Inferring intelligence of ancient people based on modern genomic studies	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
Whole exome sequencing and transcriptome analysis in two unrelated patients with novel SET mutations	2
Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle	2
New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder	2
A genotype-first analysis in a cohort of Mullerian anomaly	2
Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing	2
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations	2
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features	2
Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing	1
A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases	1
Molecular genetics of skeletal muscle channelopathies	1
Novel ITPA variants identified by whole genome sequencing and RNA sequencing	1
Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant	1
Mendelian randomization study on the causal effects of systemic lupus erythematosus on major depressive disorder	1
JHG Young Scientist Award 2023	1
Review of 40 genes causing congenital myasthenic syndromes	1
NGLY1 deficiency - clinical features and therapeutic strategy	1
A nationwide survey of Schaaf-Yang syndrome in Japan	1
Why are men taller than women?: Genetic and hormonal factors involved in sex differences in human height	1
Regulation of MCCC1 expression by a Parkinson’s disease-associated intronic variant: implications for pathogenesis	1
Association of rare PPARGC1A variants with Parkinson’s disease risk	1
LncRNA-mRNA co-expression network revealing the regulatory roles of lncRNAs in melanogenesis in vitiligo	1
Association of Crohn’s disease and ulcerative colitis with the risk of neurological diseases: a large-scale Mendelian randomization study	1
Expanding the clinical and molecular spectrum of TBC1D32-related ciliopathy: case reports and literature Review	1
Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility	1
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance	1
Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk	1
Investigating common mutations in ATP7B gene and the prevalence of Wilson’s disease in the Thai population using population-based genome-wide datasets	1
Genetics of autism spectrum disorders and future direction	1
DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient	1
Genetic factors associated with serum amylase in a Japanese population: combined analysis of copy-number and single-nucleotide variants	1
Genetic background in late-onset sensorineural hearing loss patients	1
The mitochondrial genomes of two Pre-historic Hunter Gatherers in Sri Lanka	1
Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps	1
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	1
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation	1
Dual origins of the Northwest Chinese Kyrgyz: the admixture of Bronze age Siberian and Medieval Niru’un Mongolian Y chromosomes	1
Clinical and genetic spectrum of patients with IRF2BPL syndrome	1
Genetics of brain arteriovenous malformations and cerebral cavernous malformations	1
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis	1
DOK7 CpG hypermethylation in blood leukocytes as an epigenetic biomarker for acquired tamoxifen resistant in breast cancer	1
Genetics of Alzheimer’s disease: an East Asian perspective	1
Ovarian cancer risk of Chinese women with BRCA1/2 germline pathogenic variants	1
Assessment of NKG2C copy number variation in HIV-1 infection susceptibility, and considerations about the potential role of lacking receptors and virus infection	1
Positive association between serum resistin and smoking was strongest in homozygotes of the G-A haplotype at c.-420 C>G and c.-358 G>A in RETN promoter: the Toon Genome Study	1
Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17	1
Illuminating the potential causality of serum level of matrix metalloproteinases and the occurrence of cardiovascular and cerebrovascular diseases: a Mendelian randomization study	1
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	1