OOIR: Observatory of International Research

Papers

(The TQCC of Journal of Human Genetics is 5. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-04-01 to 2025-04-01.)

Article	Citations
Novel variants causing megalencephalic leukodystrophy in Sudanese families	94
A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient	83
Pathogenic variants in SHROOM3 associated with hemifacial microsomia	82
The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation	31
Concurrence of novel mutations causing Gilbert’s and Dubin–Johnson syndrome with poor clinical outcomes in a Han Chinese family	31
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites	31
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation	28
Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population	27
Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer	27
Mitogenomics of the Koryaks and Evens of the northern coast of the Sea of Okhotsk	26
ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay	26
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2	25
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population	25
Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction	24
Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases	22
Healthy lifestyle practice correlates with decreased obesity prevalence in individuals with high polygenic risk: TMM CommCohort study	22
Is legislation to prevent genetic discrimination necessary in Japan? An overview of the current policies and public attitudes	22
Genomic variants associated with age at diagnosis of childhood-onset type 1 diabetes	21
Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition	20
Modeling colorectal cancer evolution	19
A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies	18
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review	18
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2	17
Secondary findings in 622 Turkish clinical exome sequencing data	15
A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia	15

Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability	13
Identification of unique DNA methylation sites in Kabuki syndrome using whole genome bisulfite sequencing and targeted hybridization capture followed by enzymatic methylation sequencing	13
Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome	12
Novel biallelic mutations in PADI6 in patients with early embryonic arrest	12
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype	12
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases	12
Integrated analysis of probability of type 2 diabetes mellitus with polymorphisms and methylation of SLC30A8 gene: a nested case-control study	12
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes	12
Acknowledgment to the reviewers in 2022	11
ACAN biallelic variants in a girl with severe idiopathic short stature	11
Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns	11
Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10	11
Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients	11
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients	11
A new association of PAX6 variation with Juvenile onset open angle glaucoma	10
Genome-wide association study of the risk of chronic kidney disease and kidney-related traits in the Japanese population: J-Kidney-Biobank	10
Identification of a missense variant of MND1 in meiotic arrest and non-obstructive azoospermia	9
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata	9
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case	9
Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort	9
Recontact: a survey of current practices and BRCA1/2 testing in Japan	9
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome	9
A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis	9
The challenge of diagnosing primary ciliary dyskinesia: a commentary on various causative genes and their pathogenic variants	9
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing	9
DOK7 CpG hypermethylation in blood leukocytes as an epigenetic biomarker for acquired tamoxifen resistant in breast cancer	9
A 3000-year-old founder variant in the DRC1 gene causes primary ciliary dyskinesia in Japan and Korea	9
Efficient HLA imputation from sequential SNPs data by transformer	8
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder	8
BCS1L mutations produce Fanconi syndrome with developmental disability	8
Association of Crohn’s disease and ulcerative colitis with the risk of neurological diseases: a large-scale Mendelian randomization study	8
Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers	8
Correction: Identification of cytotoxic T cells and their T cell receptor sequences targeting COVID-19 using MHC class I-binding peptides	8
Lifestyles, genetics, and future perspectives on gastric cancer in east Asian populations	8
Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families	8
Diversity of thought: public perceptions of genetic testing across ethnic groups in the UK	8
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study	8
Cancer-associated miRNAs and their therapeutic potential	8
Genetic effects on gestational diabetes mellitus and their interactions with environmental factors among Japanese women	8
Genome-wide association study identifies APOE locus influencing plasma p-tau181 levels	8
Deciphering the phenotypic spectrum associated with MIA3-related odontochondrodysplasia	7
A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases	7
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy	7
Clinical and genetic features of cystic fibrosis in Japan	7
Promoter hypermethylation of GALR1 acts as an early epigenetic susceptibility event in colorectal carcinogenesis	7
Molecular gene signature of circulating stromal/stem cells	7
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7	7
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13	7
Triple mosaic variants of PURA in a patient with multiple congenital anomalies	7
Systematic analyses of GWAS summary statistics from UK Biobank identified novel susceptibility loci and genes for upper gastrointestinal diseases	7

Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures	7
Imaging flow cytometry-based multiplex FISH for three IGH translocations in multiple myeloma	7
Chromosomal microarray analysis versus noninvasive prenatal testing in fetuses with increased nuchal translucency	7
Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy	7
A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms	6
An application supporting diagnosis for rare genetic diseases – UR-DBMS and Syndrome Finder –	6
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	6
Clinical and molecular characteristics of Korean patients with Kabuki syndrome	6
Prediction of protein structure and AI	6
Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy	6
Prevalence of common aneuploidy in twin pregnancies	6
Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic mapping and molecular cytogenetic methodologies	6
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review	6
FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals	6
Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk	6
Identification of epistatic SNP combinations in rheumatoid arthritis using LAMPLINK and Japanese cohorts	6
Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases	6
Mendelian randomization study on the causal effects of systemic lupus erythematosus on major depressive disorder	6
Y-SNP Haplogroup Hierarchy Finder: a web tool for Y-SNP haplogroup assignment	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
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene	6
Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing	6
The distribution of regions of homozygosity (ROH) among consanguineous populations—implications for a routine genetic counseling service	6
Comparison of two families with and without ataxia harboring novel variants in PRKCG	6
Looking back: three key lessons from 20 years of shaping Japanese genome research regulations	5
Further delineation of KIF21B-related neurodevelopmental disorders	5
From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R	5
Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer	5
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)	5
The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis	5
Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease	5
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome	5
Obituary Norio Niikawa, M.D., Ph.D., 1942–2022	5
Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification	5
Intellectual disability and abnormal cortical neuron phenotypes in patients with Bloom syndrome	5
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	5
A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor	5
Identity-by-descent analysis of CMTX3 links three families through a common founder	5
Genomic alterations in gynecological malignancies: histotype-associated driver mutations, molecular subtyping schemes, and tumorigenic mechanisms	5
Genetic variants and altered expression of SERPINF1 confer disease susceptibility in patients with otosclerosis	5
Correction: Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction	5