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 2022-05-01 to 2026-05-01.)

Article	Citations
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases	156
GPD1 deficiency—a rare, overlooked cause of liver disease	130
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites	116
Ectopic co-expression of canonical and LINE1 and THE1A-exonizing IL23R transcripts in sarcoid myopathy	53
Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport	43
Genome-wide functional annotation and interpretation of splicing variants: toward RNA-targeted therapies	40
Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns	35
Hidden SVA retrotransposon insertion in BRCA1 revealed by nanopore targeted sequencing causes hereditary breast and ovarian cancer	29
Imaging flow cytometry-based multiplex FISH for three IGH translocations in multiple myeloma	27
Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases	25
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study	24
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review	17
Psychological distress and cancer worry in unaffected relatives undergoing cascade testing with multigene panel testing	17
Acknowledgment to the reviewers in 2024	16
Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese family	16
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability	15
Identification of an IL17RC missense variant in a Chinese family with multiple osteochondromas and ankylosing spondylitis	15
Evidence for nonhomologous meiotic coorientation in man	14
Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China	14
Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study	14
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals	14
Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot	14
Diagnostic yield of trio exome sequencing as a first-tier test for identifying genetic causes of pregnancy loss	13
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

Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle	12
Interaction between human oxoguanine glycosylase 1 gene polymorphisms and smoking status on nasopharyngeal carcinoma risk	12
Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1	12
The genetic architecture of age at menarche and its causal effects on other traits	12
Genome-wide association study of age at menarche in the Taiwan Biobank suggests NOL4 as a novel associated gene	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
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation	11
Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping	11
Analysis of LIN28A variants in patients with Parkinson’s disease	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	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
Contribution of rare variants to heritability of a disease is much greater than conventionally estimated: modification of allele distribution model	10
Congenital disorders caused by aberrations in the biosynthesis of chondroitin/dermatan sulfate	10
Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models	10
Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy	9
Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern	9
Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings	9
Unstable FGF14 GAA repeat expansions in Indian ataxia patients: a broader phenotype and involvement of modifier loci?	9
Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency	8
Mosaic deletions detected by genome sequencing in two families	8
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing	8
CDiP technology for reverse engineering of sporadic Alzheimer’s disease	8
Assessment of whole-exome sequencing results in neurogenetic diseases	8
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene	8
Hemizygous SMARCA1 variants cause X-linked intellectual disability	8
A Japanese case of ovarian mucinous adenocarcinoma with germline double variants of MSH2 and BRCA2	8
Polygenic risk score as a tool to predict gestational weight gain and gestational diabetes among pregnant women in Taiwan	8
A comprehensive assessment of pharmacogenomic annotation tools for next-generation sequencing data: an emphasis on cyp2d6 and vietnamese genomic data	8
Heterogeneity of the Southeast Belarusian mitochondrial gene pool	8
Enhanced multi-FISH analysis of immunophenotyped plasma cells by imaging flow cytometry	7
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C	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
Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort	7
Somatic and mosaic HRAS mutations in pediatric malignant ectomesenchymoma	7
Patterns and distribution of de novo mutations in multiplex Middle Eastern families	7
The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population	7
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype	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
Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability	7
Concurrence of novel mutations causing Gilbert’s and Dubin–Johnson syndrome with poor clinical outcomes in a Han Chinese family	7
Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants	7
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia	6
Galactose mutarotase deficiency as the galactosemia type IV	6
Germline pathogenic variants detected by GenMineTOP: insight from a nationwide tumor/normal paired comprehensive genomic profiling test, in Japan	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
Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families	6
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome	6

On the modelling of variance components in classical twin studies	6
Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia	6
A novel USP27X missense variant identified in an individual with intellectual disability	6
Translocation-specific polymerase chain reaction in preimplantation genetic testing for recurrent translocation carrier	6
An application supporting diagnosis for rare genetic diseases – UR-DBMS and Syndrome Finder –	6
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome	6
Mitogenomics of the Koryaks and Evens of the northern coast of the Sea of Okhotsk	6
Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer	6
Novel glycan-related biomarker discovery by total glycomic and focused protein glycomic analyses	6
Clinical and molecular characteristics of Korean patients with Kabuki syndrome	6
Molecular genetics of dystrophinopathy	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
Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers	6
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	6
Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizures	6
A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms	6
Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia	6
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis	6
Artificial intelligence in medical genomics	5
Elucidating the impact of a synonymous SEC24D variant on aberrant splicing in a patient with cole-carpenter syndrome 2	5
Promoter hypermethylation of GALR1 acts as an early epigenetic susceptibility event in colorectal carcinogenesis	5
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism	5
Exploring the molecular and clinical spectrum of COVID-19-related acute necrotizing encephalopathy in three pediatric cases	5
Genotyping, characterization, and imputation of known and novel CYP2A6 structural variants using SNP array data	5
Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay	5
The c.644 G > A p.(Trp215*) founder variant in the CLIC5 gene causes progressive autosomal recessive deafness 103 (DFNB103) in Eastern Siberia	5
When ganglioside pathways go awry: congenital disorders and experimental insights	5
Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish	5
A case report of spinocerebellar ataxia with TRPC3 gene mutation and review of literature	5
Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome	5
INTS11-related neurodevelopmental disorder: a case report and literature review	5
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias	5
A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family	5
Rare variants in embryonic development and cell signalling genes in syndromic and non-syndromic orofacial clefts: evidence from a Colombian Caribbean cohort	5
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome	5
Triple mosaic variants of PURA in a patient with multiple congenital anomalies	5
PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?	5
A copy number variant overlapping the 3ʹUTR of PLP1 causes spastic paraplegia	5