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 2021-02-01 to 2025-02-01.)

Article	Citations
Diversity of thought: public perceptions of genetic testing across ethnic groups in the UK	75
Novel variants causing megalencephalic leukodystrophy in Sudanese families	65
Pathogenic variants in SHROOM3 associated with hemifacial microsomia	55
A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient	28
Chromosomal microarray analysis versus noninvasive prenatal testing in fetuses with increased nuchal translucency	27
Autosomal dominant familial acanthosis nigricans caused by a C-terminal nonsense mutation of FGFR3	25
Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients	25
Concurrence of novel mutations causing Gilbert’s and Dubin–Johnson syndrome with poor clinical outcomes in a Han Chinese family	24
A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia	23
Clinical and genetic features of cystic fibrosis in Japan	22
Integrated analysis of probability of type 2 diabetes mellitus with polymorphisms and methylation of SLC30A8 gene: a nested case-control study	22
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases	20
Genome-wide association study identifies APOE locus influencing plasma p-tau181 levels	20
Acknowledgment to the reviewers in 2022	20
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study	19
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome	19
DOK7 CpG hypermethylation in blood leukocytes as an epigenetic biomarker for acquired tamoxifen resistant in breast cancer	18
Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10	17
Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns	17
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy	17
Efficient HLA imputation from sequential SNPs data by transformer	14
Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers	14
A new association of PAX6 variation with Juvenile onset open angle glaucoma	14
Imaging flow cytometry-based multiplex FISH for three IGH translocations in multiple myeloma	13
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder	12

Y chromosome analysis for common surnames in the Japanese male population	12
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients	10
Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases	10
Genomic variants associated with age at diagnosis of childhood-onset type 1 diabetes	10
Identification of a missense variant of MND1 in meiotic arrest and non-obstructive azoospermia	9
Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition	9
Identification of unique DNA methylation sites in Kabuki syndrome using whole genome bisulfite sequencing and targeted hybridization capture followed by enzymatic methylation sequencing	9
Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome	9
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7	9
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2	9
A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis	9
Association of Crohn’s disease and ulcerative colitis with the risk of neurological diseases: a large-scale Mendelian randomization study	9
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata	9
BCS1L mutations produce Fanconi syndrome with developmental disability	8
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review	8
Cancer-associated miRNAs and their therapeutic potential	8
Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability	8
Novel biallelic mutations in PADI6 in patients with early embryonic arrest	8
Recontact: a survey of current practices and BRCA1/2 testing in Japan	8
Lifestyles, genetics, and future perspectives on gastric cancer in east Asian populations	8
Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort	8
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes	8
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing	8
Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population	8
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype	8
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation	7
Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients	7
Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families	7
ACAN biallelic variants in a girl with severe idiopathic short stature	7
Mitogenomics of the Koryaks and Evens of the northern coast of the Sea of Okhotsk	7
A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies	7
Genome-wide association study of the risk of chronic kidney disease and kidney-related traits in the Japanese population: J-Kidney-Biobank	7
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case	7
A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases	7
Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer	7
Modeling colorectal cancer evolution	7
Correction: Identification of cytotoxic T cells and their T cell receptor sequences targeting COVID-19 using MHC class I-binding peptides	7
The challenge of diagnosing primary ciliary dyskinesia: a commentary on various causative genes and their pathogenic variants	7
ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay	7
Healthy lifestyle practice correlates with decreased obesity prevalence in individuals with high polygenic risk: TMM CommCohort study	7
Secondary findings in 622 Turkish clinical exome sequencing data	7
Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures	7
Identification of epistatic SNP combinations in rheumatoid arthritis using LAMPLINK and Japanese cohorts	6
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy	6
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	6
A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor	6
Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease	6
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)	6
An application supporting diagnosis for rare genetic diseases – UR-DBMS and Syndrome Finder –	6
The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation	6

Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13	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
Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction	6
Prevalence of common aneuploidy in twin pregnancies	6
The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis	6
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome	6
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis	6
Prediction of protein structure and AI	6
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites	6
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2	6
Is legislation to prevent genetic discrimination necessary in Japan? An overview of the current policies and public attitudes	6
Intellectual disability and abnormal cortical neuron phenotypes in patients with Bloom syndrome	6
Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer	6
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	6
Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia	6
Genomic alterations in gynecological malignancies: histotype-associated driver mutations, molecular subtyping schemes, and tumorigenic mechanisms	6
A 3000-year-old founder variant in the DRC1 gene causes primary ciliary dyskinesia in Japan and Korea	6
Obituary Norio Niikawa, M.D., Ph.D., 1942–2022	5
Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases	5
Clinical risk management of breast, ovarian, pancreatic, and prostatic cancers for BRCA1/2 variant carriers in Japan	5
Triple mosaic variants of PURA in a patient with multiple congenital anomalies	5
Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy	5
Identity-by-descent analysis of CMTX3 links three families through a common founder	5
Looking back: three key lessons from 20 years of shaping Japanese genome research regulations	5
Comparison of two families with and without ataxia harboring novel variants in PRKCG	5
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene	5
Further delineation of KIF21B-related neurodevelopmental disorders	5
Y-SNP Haplogroup Hierarchy Finder: a web tool for Y-SNP haplogroup assignment	5
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability	5
Systematic analyses of GWAS summary statistics from UK Biobank identified novel susceptibility loci and genes for upper gastrointestinal diseases	5
Genetics of Alzheimer’s disease: an East Asian perspective	5
LncRNA-mRNA co-expression network revealing the regulatory roles of lncRNAs in melanogenesis in vitiligo	5
Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies	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
Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk	5
JHG Young Scientist Award 2023	5