OOIR: Observatory of International Research

Papers

(The H4-Index of Genetics in Medicine is 42. 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 2022-01-01 to 2026-01-01.)

Article	Citations
Masthead	310
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency	237
Editorial Board	203
eP234: SERPINA1 sequencing facilitates detection of undiagnosed Alpha-1 antitrypsin deficiency	170
Desperately seeking solutions	151
eP033: COASY-associated pontocerebellar hypoplasia – A possible additional secondary target detectable by expanded newborn screening?	138
eP162: Mosaic variant in ENG in infant with pulmonary arteriovenous malformations: Case report and review of hereditary hemorrhagic telangiectasia	128
eP049: Discordant fluorescence in situ hybridization and RNASeq results in the identification of fusion partners in recurring translocations in hematological malignancies	117
eP179: Expanding the phenotype of CLCN6-associated early-onset neurodegeneration	98
eP169: A case report of Ververi-Brady syndrome: Expanding the genotype and phenotype	92
eP290: A mosaic Angelman syndrome case with language apraxia and symptoms overlapping Prader-Willi syndrome	85
Editorial Board	82
OP037: Assessing the impact of expanded ACMG secondary findings recommendations on population genomic screening in the Geisinger MyCode Community Health Initiative	77
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities	70
eP498: Detection of congenital cytomegalovirus infection on high-risk newborn population	70
Table of Contents	70
OP055: Comparing error rates in disclosure of genome sequencing results between non-genetics providers and genetic counselors	70
Table of Contents	65
Correspondence on “Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder” by Rawlins et al	64
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time	63
Editorial Board	62
Scoping review and classification of deep learning in medical genetics	59
Where there is no genetic counselor: An online decision-aid supports the majority of parents’ diagnostic genomic testing choices for their children	59
Educational considerations based on medical student use of polygenic risk information and apparent race in a simulated consultation	58
Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden	56

The clinical geneticist workforce: Community forums to address challenges and opportunities	56
Correspondence on “Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort” by Akter et al	55
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)	55
Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review	54
eP256: Intrafamilial variability in chromosome 2q13 microdeletion: Case report and review of the literature	49
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome	49
Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions	49
Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries	47
Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories	46
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies	45
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder	45
Increasing inclusivity in precision medicine research: Views of deaf and hard of hearing individuals	44
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities	44
Improving racial diversity in the genomics workforce: An examination of challenges and opportunities	43
Universal tumor screening in a population with MSH6- and PMS2-associated Lynch syndrome	43
Correspondence on “Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants” by Vogel et al	43
Masthead	43