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	140
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study	110
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases	100
GPD1 deficiency—a rare, overlooked cause of liver disease	40
Imaging flow cytometry-based multiplex FISH for three IGH translocations in multiple myeloma	39
Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns	38
Hidden SVA retrotransposon insertion in BRCA1 revealed by nanopore targeted sequencing causes hereditary breast and ovarian cancer	35
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites	32
Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport	31
Genome-wide functional annotation and interpretation of splicing variants: toward RNA-targeted therapies	26
Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases	24
Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China	22
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review	19
Acknowledgment to the reviewers in 2024	18
Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study	16
Identification of an IL17RC missense variant in a Chinese family with multiple osteochondromas and ankylosing spondylitis	16
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability	15
Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot	15
Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese family	14
The genetic architecture of age at menarche and its causal effects on other traits	13
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals	13
Diagnostic yield of trio exome sequencing as a first-tier test for identifying genetic causes of pregnancy loss	13
Evidence for nonhomologous meiotic coorientation in man	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
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review	13

Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)	13
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle	12
Facial clues to the photosensitive trichothiodystrophy phenotype in childhood	12
Biallelic missense CEP55 variants cause prenatal MARCH syndrome	12
Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey	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
Genetics of bipolar disorder: insights into its complex architecture and biology from common and rare variants	11
Correction: Expectations, concerns, and attitudes regarding whole-genome sequencing studies: a survey of cancer patients, families, and the public in Japan	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
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
Genome-wide association study of age at menarche in the Taiwan Biobank suggests NOL4 as a novel associated gene	10
Unstable FGF14 GAA repeat expansions in Indian ataxia patients: a broader phenotype and involvement of modifier loci?	10
Congenital disorders caused by aberrations in the biosynthesis of chondroitin/dermatan sulfate	10
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation	10
A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy	9
Correlation between the risk of ovarian cancer and BRCA recurrent pathogenic variants in Japan	9
Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern	9
A Japanese case of ovarian mucinous adenocarcinoma with germline double variants of MSH2 and BRCA2	9
Contribution of rare variants to heritability of a disease is much greater than conventionally estimated: modification of allele distribution model	9
Polygenic risk score as a tool to predict gestational weight gain and gestational diabetes among pregnant women in Taiwan	8
Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy	8
Association of mitochondrial DNA haplogroup and hearing impairment with aging in Japanese general population of the Iwaki Health Promotion Project	8
Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings	8
Mosaic deletions detected by genome sequencing in two families	8
Assessment of whole-exome sequencing results in neurogenetic diseases	8
Hemizygous SMARCA1 variants cause X-linked intellectual disability	8
Host genetic factors of COVID-19 susceptibility and disease severity in a Thai population	8
A comprehensive assessment of pharmacogenomic annotation tools for next-generation sequencing data: an emphasis on cyp2d6 and vietnamese genomic data	8
CDiP technology for reverse engineering of sporadic Alzheimer’s disease	7
Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants	7
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families	7
Somatic and mosaic HRAS mutations in pediatric malignant ectomesenchymoma	7
The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population	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
Heterogeneity of the Southeast Belarusian mitochondrial gene pool	7
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene	7
Patterns and distribution of de novo mutations in multiplex Middle Eastern families	7
APOBEC mediated mutagenesis drives genomic heterogeneity in endometriosis	7
Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with 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
Enhanced multi-FISH analysis of immunophenotyped plasma cells by imaging flow cytometry	7
Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency	7
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing	7
Correction: Comparison of two families with and without ataxia harboring novel variants in PRKCG	7
Heritability of complex traits in sub-populations experiencing bottlenecks and growth	7
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C	7
Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families	7

Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer	6
An application supporting diagnosis for rare genetic diseases – UR-DBMS and Syndrome Finder –	6
Germline pathogenic variants detected by GenMineTOP: insight from a nationwide tumor/normal paired comprehensive genomic profiling test, in Japan	6
Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers	6
Mitogenomics of the Koryaks and Evens of the northern coast of the Sea of Okhotsk	6
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype	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
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
Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort	6
Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizures	6
Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability	6
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome	6
Clinical and molecular characteristics of Korean patients with Kabuki syndrome	6
Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome	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
Concurrence of novel mutations causing Gilbert’s and Dubin–Johnson syndrome with poor clinical outcomes in a Han Chinese family	6
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes	6
Novel glycan-related biomarker discovery by total glycomic and focused protein glycomic analyses	5
A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms	5
Galactose mutarotase deficiency as the galactosemia type IV	5
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
Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia	5
A novel USP27X missense variant identified in an individual with intellectual disability	5
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome	5
Elucidating the impact of a synonymous SEC24D variant on aberrant splicing in a patient with cole-carpenter syndrome 2	5
Prevalence of common aneuploidy in twin pregnancies	5
Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish	5
Promoter hypermethylation of GALR1 acts as an early epigenetic susceptibility event in colorectal carcinogenesis	5
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis	5
Translocation-specific polymerase chain reaction in preimplantation genetic testing for recurrent translocation carrier	5
Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia	5
Molecular genetics of dystrophinopathy	5
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia	5
When ganglioside pathways go awry: congenital disorders and experimental insights	5
On the modelling of variance components in classical twin studies	5
Triple mosaic variants of PURA in a patient with multiple congenital anomalies	5
Quantitative trait loci, G×E and G×G for glycemic traits: response to metformin and placebo in the Diabetes Prevention Program (DPP)	4
The c.644 G > A p.(Trp215*) founder variant in the CLIC5 gene causes progressive autosomal recessive deafness 103 (DFNB103) in Eastern Siberia	4
INTS11-related neurodevelopmental disorder: a case report and literature review	4
Association of the D-amino acid oxidase gene with methadone dose in heroin dependent patients under methadone maintenance treatment	4
Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay	4
The prevalence of laterality defects in patients with congenital heart disease	4
Intron retention caused by a canonical splicing variant in SSR4-related congenital disorder of glycosylation	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
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss	4
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism	4
Genotyping, characterization, and imputation of known and novel CYP2A6 structural variants using SNP array data	4
A copy number variant overlapping the 3ʹUTR of PLP1 causes spastic paraplegia	4
A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family	4
PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?	4
Whole-genome sequencing of 1029 Indian individuals reveals unique and rare structural variants	4
Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes	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
Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome	4
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population	4
Exploring the molecular and clinical spectrum of COVID-19-related acute necrotizing encephalopathy in three pediatric cases	4
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome	4
Artificial intelligence in medical genomics	4
Profiling of runs of homozygosity from whole-genome sequence data in Japanese biobank	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
Novel variants in DNAH9 are present in two infertile patients with severe asthenospermia	4
Genome-wide association study of the risk of chronic kidney disease and kidney-related traits in the Japanese population: J-Kidney-Biobank	3
Expanding the phenotypic spectrum and clinical severity associated with WLS gene	3
Genetics of neurological and psychiatric disorders	3
Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1	3
Genetic association mapping leveraging Gaussian processes	3
A Japanese case of familial malignant melanoma with germline CDK4 variant incidentally diagnosed by cancer genome profiling	3
The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients	3
A step forward in genetic counselling: defining practice and ethics through the Genetic Counselling Practice Consortium in Hong Kong	3
Diversity of thought: public perceptions of genetic testing across ethnic groups in the UK	3
Molecular genetics and therapeutic development for GNE myopathy	3
Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10	3
Genetic inhibition of nicotinamide N-methyltransferase and prevention of alcohol-associated fatty liver in humans	3
A novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patient	3
The composition dynamics of transposable elements in human blastocysts	3
Adjusting for population stratification in polygenic risk score analyses: a guide for model specifications in the UK Biobank	3
Public attitudes in the clinical application of genome editing on human embryos in Japan: a cross-sectional survey across multiple stakeholders	3
Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome	3

DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance	3
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations	3
MYH2-associated myopathy caused by novel compound heterozygous mutations: a case report and literature review	3
Integrated analysis of probability of type 2 diabetes mellitus with polymorphisms and methylation of SLC30A8 gene: a nested case-control study	3
Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis	3
Interaction between the GCKR rs1260326 variant and serum HDL cholesterol contributes to HOMA-β and ISIMatusda in the middle-aged T2D individuals	3
Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia	3
Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology	3
Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletion	3
Exploring socio-economic, biochemical, and genetic factors influencing thyroid status in Indian school-going adolescents	3
Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition	3
Identification of epistatic SNP combinations in rheumatoid arthritis using LAMPLINK and Japanese cohorts	3
Novel biallelic mutations in PADI6 in patients with early embryonic arrest	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
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients	3
Exploring the relationship between admixture and genetic susceptibility to attention deficit hyperactivity disorder in two Latin American cohorts	2
Association of MPPED2 gene variant rs10767873 with kidney function and risk of cardiovascular disease in patients with hypertension	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
A novel homozygous missense mutation in the FASTKD2 gene leads to Lennox-Gastaut syndrome	2
New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder	2
Mediation role of DNA methylation in association between handgrip strength and cognitive function in monozygotic twins	2
Demographic history of Ryukyu islanders at the southern part of the Japanese Archipelago inferred from whole-genome resequencing data	2
In memory of Professor Ichiro Matsuda	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
Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G	2
Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle	2
FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals	2
Correction: Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction	2
Significance of noninvasive prenatal testing using massively parallel sequencing in women with twin or vanishing twin pregnancies	2
Identification of novel FHL1 mutations associated with X-linked scapuloperoneal myopathy in unrelated Chinese patients	2
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders	2
Fundamentals for predicting transcriptional regulations from DNA sequence patterns	2
Proteome-wide mendelian randomization identifies causal plasma proteins in venous thromboembolism development	2
Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese population	2
Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments	2
Genotypic and phenotypic spectrum of anophthalmia/microphthalmia in families from Khyber Pakhtunkhwa, Pakistan	2
Hematologic traits and primary biliary cholangitis: a Mendelian randomization study	2
Expectations, concerns, and attitudes regarding whole-genome sequencing studies: a survey of cancer patients, families, and the public in Japan	2
Correction: Genetics of autism spectrum disorders and future direction	2
Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings	2
Inferring intelligence of ancient people based on modern genomic studies	2
Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing	2
Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing	2
Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy	2
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	2
Germline or somatic mutations in genes encoding microRNAs as biomarkers predicting the risk of adult T-cell leukemia/lymphoma	2
GLUT9 as a potential drug target for chronic kidney disease: Drug target validation by a Mendelian randomization study	2
A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay	2
Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration	2
Genome analysis through image processing with deep learning models	2
A genotype-first analysis in a cohort of Mullerian anomaly	2
Detecting genomic mosaicism in “de novo” genetic epilepsy by amplicon-based deep sequencing	2
Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A	2
The usefulness of comprehensive genome profiling test in screening of Lynch syndrome independent of the conventional clinical screening or microsatellite instability tests	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
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
Potential drug targets for gastroesophageal reflux disease and Barrett’s esophagus identified through Mendelian randomization analysis	2
Assessment of different promoters in lentiviral vectors for expression of the N-acetyl-galactosamine-6-sulfate sulfatase gene	2
Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model	2
Comparison of two families with and without ataxia harboring novel variants in PRKCG	2
CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy	2
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility	2
Whole exome sequencing and transcriptome analysis in two unrelated patients with novel SET mutations	2
Advances in AI and machine learning for predictive medicine	2
NGLY1 deficiency - clinical features and therapeutic strategy	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
The mitochondrial genomes of two Pre-historic Hunter Gatherers in Sri Lanka	1
Molecular genetics of myotonic dystrophy and the evolution of therapeutic approaches	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
Approaches to diagnostic screening for congenital disorders of glycosylation and its prevalence in Japan	1
Ovarian cancer risk of Chinese women with BRCA1/2 germline pathogenic variants	1
Illuminating the potential causality of serum level of matrix metalloproteinases and the occurrence of cardiovascular and cerebrovascular diseases: a Mendelian randomization study	1
Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps	1
Novel ITPA variants identified by whole genome sequencing and RNA sequencing	1
The impact of public insurance on RRSO for HBOC in Japan: a nationwide data study	1
Genetic factors associated with serum amylase in a Japanese population: combined analysis of copy-number and single-nucleotide variants	1
Genetics of autism spectrum disorders and future direction	1
Cancer and disease profiles for PTEN pathogenic variants in Japanese population	1
Mortality and morbidity of infants with trisomy 21, weighing 1500 grams or less, in Japan	1
Polygenic and single-locus selection on BMI during Polynesian expansion	1
Whole exome sequencing in Japanese spinocerebellar ataxia identifies novel variants	1
Tetralogy of Fallot and craniosynostosis – differential manifestation in a familial case of CHDED syndrome caused by novel pathogenic PRKD1 variant	1
Gardos channelopathies: novel insights into KCNN4 mutations and their clinical impact	1
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis	1
Regulation of MCCC1 expression by a Parkinson’s disease-associated intronic variant: implications for pathogenesis	1
Analyzing complex traits and diseases using GxE PRS: genotype-environment interaction in polygenic risk score models	1
Novel susceptibility gene SLC23A2 functions via PI3K-AKT-mTOR pathway in etiology of non-syndromic cleft palate	1
Association of rs9939609 in FTO with BMI among Polynesian peoples living in Aotearoa New Zealand and other Pacific nations	1
Biosynthesis of GPI anchored proteins, its deficiencies and treatment	1
Cis-regulated expression of non-conserved lincRNAs associates with cardiometabolic related traits	1
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance	1
Why are men taller than women?: Genetic and hormonal factors involved in sex differences in human height	1
Clinical and genetic spectrum of patients with IRF2BPL syndrome	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