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
Table of Contents	70
OP055: Comparing error rates in disclosure of genome sequencing results between non-genetics providers and genetic counselors	70
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	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
Where there is no genetic counselor: An online decision-aid supports the majority of parents’ diagnostic genomic testing choices for their children	59
Scoping review and classification of deep learning in medical genetics	59
Educational considerations based on medical student use of polygenic risk information and apparent race in a simulated consultation	58
The clinical geneticist workforce: Community forums to address challenges and opportunities	56

Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden	56
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)	55
Correspondence on “Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort” by Akter et al	55
Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review	54
Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions	49
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
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
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities	44
Increasing inclusivity in precision medicine research: Views of deaf and hard of hearing individuals	44
Masthead	43
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