OOIR: Observatory of International Research

Papers

(The TQCC of Journal of Human Genetics is 4. 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 2021-09-01 to 2025-09-01.)

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
Identification of an IL17RC missense variant in a Chinese family with multiple osteochondromas and ankylosing spondylitis	22
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)	22
Acknowledgment to the reviewers in 2024	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
The genetic architecture of age at menarche and its causal effects on other traits	14
Evidence for nonhomologous meiotic coorientation in man	14
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
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
Diagnostic yield of trio exome sequencing as a first-tier test for identifying genetic causes of pregnancy loss	12

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
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
Genome-wide association study of age at menarche in the Taiwan Biobank suggests NOL4 as a novel associated gene	10
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
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
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
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
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
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
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
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
Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia	6
Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer	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
An application supporting diagnosis for rare genetic diseases – UR-DBMS and Syndrome Finder –	6
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia	6
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes	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
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
Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families	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
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
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
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
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