Journal of Human Genetics

Article	Citations
A review of UMAP in population genetics	89
Molecular genetics of Parkinson’s disease: Contributions and global trends	66
Cancer-associated miRNAs and their therapeutic potential	65
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy	55
Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease	45
Deep neural network improves the estimation of polygenic risk scores for breast cancer	39
Practical guide for managing large-scale human genome data in research	38
The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database	31
Association of an IGHV3-66 gene variant with Kawasaki disease	29
The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation	28
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing	27
Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies	25
The genetic architecture of schizophrenia: review of large-scale genetic studies	23
Lifestyles, genetics, and future perspectives on gastric cancer in east Asian populations	23
Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures	22
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses	21
Genomic landscape of hepatocarcinogenesis	20
Genetics of Alzheimer’s disease: an East Asian perspective	20
Prefecture-level population structure of the Japanese based on SNP genotypes of 11,069 individuals	20
Genetics of autism spectrum disorders and future direction	20
From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R	20
Clinical implementation and current advancement of blood liquid biopsy in cancer	19
Evaluation of the causal effects of blood lipid levels on gout with summary level GWAS data: two-sample Mendelian randomization and mediation analysis	19
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms	19
Clinical genetics of Charcot–Marie–Tooth disease	18

Molecular pathogenesis of breast cancer: impact of miR-99a-5p and miR-99a-3p regulation on oncogenic genes	18
Host genetic factors of COVID-19 susceptibility and disease severity in a Thai population	17
DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient	17
Modeling colorectal cancer evolution	17
Whole exome sequencing of fetal structural anomalies detected by ultrasonography	16
Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy	15
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy	15
Clinical and molecular spectra of BRAF-associated RASopathy	15
Spinal cord involvement and paroxysmal events in “Infantile Onset Transient Hypomyelination” due to TMEM63A mutation	14
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review	14
A review of major causative genes in congenital myopathies	13
A loss-of-function variant in DNA mismatch repair gene MLH3 underlies severe oligozoospermia	13
Application of targeted nanopore sequencing for the screening and determination of structural variants in patients with Lynch syndrome	12
Molecular diagnose of a large hearing loss population from China by targeted genome sequencing	11
Immunogenomics in personalized cancer treatments	11
Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients	11
DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A	11
A functional variant of SHARPIN confers increased risk of late-onset Alzheimer’s disease	10
A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders	10
Functional genomics for breast cancer drug target discovery	10
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes	10
Medieval Super-Grandfather founder of Western Kazakh Clans from Haplogroup C2a1a2-M48	10
Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes	10
A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review	9
Genetic background in late-onset sensorineural hearing loss patients	9
Genome-wide SNP data of Izumo and Makurazaki populations support inner-dual structure model for origin of Yamato people	9
Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients	9
Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder	9
Genome-wide association study of individual differences of human lymphocyte profiles using large-scale cytometry data	9
Polygenic risk scores for low-density lipoprotein cholesterol and familial hypercholesterolemia	9
Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability	9
Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome	9
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment	9
Clinical risk management of breast, ovarian, pancreatic, and prostatic cancers for BRCA1/2 variant carriers in Japan	9
Novel biallelic mutations in PADI6 in patients with early embryonic arrest	9
Human genetic variant E756del in the ion channel PIEZO1 not associated with protection from severe malaria in a large Ghanaian study	8
Novel HOXD13 variants in syndactyly type 1b and type 1c, and a new spectrum of TP63-related disorders	8
Genetics of bipolar disorder: insights into its complex architecture and biology from common and rare variants	8
Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia	8
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing	8
Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanese family with minor malformations, intellectual disability, and schizophrenia	8
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features	8
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies	8
BCS1L mutations produce Fanconi syndrome with developmental disability	8
Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant	8
Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey	8
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	8
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype	8
Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes	7
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy	7

Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations	7
Advances in AI and machine learning for predictive medicine	7
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene	7
The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins	7
LncRNA-mRNA co-expression network revealing the regulatory roles of lncRNAs in melanogenesis in vitiligo	7
Chromosomal microarray analysis versus noninvasive prenatal testing in fetuses with increased nuchal translucency	7
Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutation	7
OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype	7
Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience	7
Genetics of autosomal mosaic chromosomal alteration (mCA)	7
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis	7
Novel variants causing megalencephalic leukodystrophy in Sudanese families	7
A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1	7
The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project	7
Proteome-wide mendelian randomization identifies causal plasma proteins in venous thromboembolism development	7
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population	7
Genome-wide meta-analysis revealed several genetic loci associated with serum uric acid levels in Korean population: an analysis of Korea Biobank data	6
ALOX12 mutation in a family with dominantly inherited bleeding diathesis	6
Expectations, concerns, and attitudes regarding whole-genome sequencing studies: a survey of cancer patients, families, and the public in Japan	6
Identification of cytotoxic T cells and their T cell receptor sequences targeting COVID-19 using MHC class I-binding peptides	6
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome	6
The challenge of diagnosing primary ciliary dyskinesia: a commentary on various causative genes and their pathogenic variants	6
Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients	6
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families	6
Assessment of NKG2C copy number variation in HIV-1 infection susceptibility, and considerations about the potential role of lacking receptors and virus infection	6
Screening of PCSK9 and LDLR genetic variants in Familial Hypercholesterolemia (FH) patients in India	6
Genotyping, characterization, and imputation of known and novel CYP2A6 structural variants using SNP array data	6
Further delineation of KIF21B-related neurodevelopmental disorders	6
Genomic alterations in gynecological malignancies: histotype-associated driver mutations, molecular subtyping schemes, and tumorigenic mechanisms	6
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2	6
Spinocerebellar ataxia type 31 (SCA31)	6
Genetics of brain arteriovenous malformations and cerebral cavernous malformations	6
Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene	6
Phenotypic implications of pathogenic variant types in Pompe disease	6
Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability	6
A genotype-first analysis in a cohort of Mullerian anomaly	6
Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer	6
Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review	6
Is legislation to prevent genetic discrimination necessary in Japan? An overview of the current policies and public attitudes	6
Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis	6
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders	6
Dual origins of the Northwest Chinese Kyrgyz: the admixture of Bronze age Siberian and Medieval Niru’un Mongolian Y chromosomes	5
Deciphering the genetic landscape of obesity: a data-driven approach to identifying plausible causal genes and therapeutic targets	5
Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease	5
Identification of OPN3 as associated with non-syndromic oligodontia in a Japanese population	5
Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan	5
A presumed missense variant in the U2AF2 gene causes exon skipping in neurodevelopmental diseases	5
Prevalence of common aneuploidy in twin pregnancies	5
Imaging flow cytometry-based multiplex FISH for three IGH translocations in multiple myeloma	5
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13	5
The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing	5
Novel CLTC variants cause new brain and kidney phenotypes	5
An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants	5
Mapping genetic variability in mature miRNAs and miRNA binding sites in prostate cancer	5
Genetic medicine in companion diagnostics of germline BRCA testing of Japanese pancreatic cancer patients	5
Mendelian randomization study on the causal effects of systemic lupus erythematosus on major depressive disorder	5
Genome-wide association study identifies APOE locus influencing plasma p-tau181 levels	5
Japanese insurers’ attitudes toward adverse selection and genetic discrimination: a questionnaire survey and interviews with employees about using genetic test results	5
APOBEC mediated mutagenesis drives genomic heterogeneity in endometriosis	5
Correlation between the risk of ovarian cancer and BRCA recurrent pathogenic variants in Japan	5
Postpartum questionnaire survey of women who tested negative in a non-invasive prenatal testing: examining negative emotions towards the test	5
Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data	5
Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes	5
Y-SNP Haplogroup Hierarchy Finder: a web tool for Y-SNP haplogroup assignment	5
Secondary findings in 622 Turkish clinical exome sequencing data	5
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2	5
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss	4
RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function	4
Characterization of LILRB3 and LILRA6 allelic variants in the Japanese population	4
Data-driven comparison of multiple high-dimensional single-cell expression profiles	4
Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification	4
Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease	4
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome	4
A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects	4
Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments	4
Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort study	4
Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G	4
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	4
Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia	4
Incidence of contralateral and ipsilateral breast cancers and prognosis in BRCA1/2 pathogenic variant carriers based on the Japanese HBOC Consortium registration	4

A forward selection algorithm to identify mutually exclusive alterations in cancer studies	4
Correction to: The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation	4
Public attitudes in the clinical application of genome editing on human embryos in Japan: a cross-sectional survey across multiple stakeholders	4
Genome-wide association study of age at menarche in the Taiwan Biobank suggests NOL4 as a novel associated gene	4
Analysis of genetic risk factors in Japanese patients with Parkinson’s disease	4
Fetal hemoglobin-boosting haplotypes of BCL11A gene and HBS1L-MYB intergenic region in the prediction of clinical and hematological outcomes in a cohort of children with sickle cell anemia	4
Participant mothers’ attitudes toward genetic analysis in a birth cohort study	4
DOK7 CpG hypermethylation in blood leukocytes as an epigenetic biomarker for acquired tamoxifen resistant in breast cancer	4
Intronic LINE-1 insertion in SLCO1B3 as a highly prevalent cause of rotor syndrome in East Asian population	3
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata	3
SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia	3
Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families	3
Postzygotic inactivating mutation of KIF13A located at chromosome 6p22.3 in a patient with a novel mosaic neuroectodermal syndrome	3
Y chromosome analysis for common surnames in the Japanese male population	3
The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis	3
Genome-wide association study of the risk of chronic kidney disease and kidney-related traits in the Japanese population: J-Kidney-Biobank	3
The collective effects of genetic variants and complex traits	3
Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy	3
Transcriptome-wide association analyses identify an association between ARL14EP and polycystic ovary syndrome	3
Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models	3
A nationwide survey of Schaaf-Yang syndrome in Japan	3
Genetic association of MMP14 promoter variants and their functional significance in gallbladder cancer pathogenesis	3
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case	3
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis	3
ACAN biallelic variants in a girl with severe idiopathic short stature	3
A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family	3
Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition	3
Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot	3
Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome	3
Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays	3
Comprehensive copy number analysis of Y chromosome-linked loci for detection of structural variations and diagnosis of male infertility	3
Cis-regulated expression of non-conserved lincRNAs associates with cardiometabolic related traits	3
Helicobacter pylori and gastric cancer risk in BRCA 1/2 pathogenic germline variant carriers	3
The association between RAPSN methylation in peripheral blood and breast cancer in the Chinese population	3
Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome	3
Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature	3
Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer	3
Exploring the molecular and clinical spectrum of COVID-19-related acute necrotizing encephalopathy in three pediatric cases	3
A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies	3
A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy	3
Autosomal dominant familial acanthosis nigricans caused by a C-terminal nonsense mutation of FGFR3	3
Genome-wide association study identifies novel susceptibilities to adult moyamoya disease	3
A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia	3
Common and rare variants associated with cardiometabolic traits across 98,622 whole-genome sequences in the All of Us research program	3
Pregnant women’s opinions toward prenatal pretest genetic counseling in Japan	3
Experimental method for haplotype phasing across the entire length of chromosome 21 in trisomy 21 cells using a chromosome elimination technique	3
The mitochondrial genomes of two Pre-historic Hunter Gatherers in Sri Lanka	3
Challenges of secondary finding disclosure in genomic medicine in rare diseases: A nation-wide survey of Japanese facilities outsourcing comprehensive genetic testing	3
Cancer predisposition genes in Japanese children with rhabdomyosarcoma	3
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)	3
Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEA	2
Whole exome and targeted sequencing reveal novel mutations associated with inherited PCOS condition in an Indian cohort	2
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism	2
A variant in orexin receptor-2 is associated with self-reported daytime sleepiness in the Japanese population	2
Association of rare PPARGC1A variants with Parkinson’s disease risk	2
Avoidance of cutaneous adverse drug reactions induced by antiepileptic drugs based on pharmacogenomics	2
A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor	2
Patterns and distribution of de novo mutations in multiplex Middle Eastern families	2
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario	2
Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern	2
Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency	2
Quantitative trait loci, G×E and G×G for glycemic traits: response to metformin and placebo in the Diabetes Prevention Program (DPP)	2
PSMC6 induces immune cell infiltration and inflammatory response to aggravate primary Sjögren’s syndrome	2
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome	2
Illuminating the potential causality of serum level of matrix metalloproteinases and the occurrence of cardiovascular and cerebrovascular diseases: a Mendelian randomization study	2
The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey	2
DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance	2
Comparison of two families with and without ataxia harboring novel variants in PRKCG	2
Loss of BRCA1 expression and morphological features associated with BRCA1 promoter methylation status in triple-negative breast cancer	2
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability	2
Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis	2
Mitogenomics of the Koryaks and Evens of the northern coast of the Sea of Okhotsk	2
Correction: Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study	2
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population	2
Assessment of whole-exome sequencing results in neurogenetic diseases	2
Adjusting for population stratification in polygenic risk score analyses: a guide for model specifications in the UK Biobank	2
Whole-genome sequencing of 1029 Indian individuals reveals unique and rare structural variants	2
Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay	2
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility	2
Online questionnaire on genetic testing for intractable diseases in Japan: response to and issues associated with the revised medical care act	2
Chédiak–Higashi syndrome presenting as a hereditary spastic paraplegia	2
Functional analysis of variants in DMD exon/intron 10 predicted to affect splicing	2
Interaction between the GCKR rs1260326 variant and serum HDL cholesterol contributes to HOMA-β and ISIMatusda in the middle-aged T2D individuals	2
Promoter hypermethylation of GALR1 acts as an early epigenetic susceptibility event in colorectal carcinogenesis	2
CFH-CFHR1 hybrid genes in two cases of atypical hemolytic uremic syndrome	2
Identity-by-descent analysis of CMTX3 links three families through a common founder	2
PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome	2
Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort	2
Association of mitochondrial DNA haplogroup and hearing impairment with aging in Japanese general population of the Iwaki Health Promotion Project	2
Whole exome sequencing and transcriptome analysis in two unrelated patients with novel SET mutations	2
Detecting genomic mosaicism in “de novo” genetic epilepsy by amplicon-based deep sequencing	2
GLUT9 as a potential drug target for chronic kidney disease: Drug target validation by a Mendelian randomization study	2
Functional restoration of mouse Nf1 nonsense alleles in differentiated cultured neurons	2
Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders	2