OOIR: Observatory of International Research

Papers

(The H4-Index of Genetics in Medicine is 39. 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 2022-08-01 to 2026-08-01.)

Article	Citations
Editorial Board	412
Educational considerations based on medical student use of polygenic risk information and apparent race in a simulated consultation	257
Desperately seeking solutions	187
Editorial Board	181
Table of Contents	160
Correspondence on “Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder” by Rawlins et al	129
Where there is no genetic counselor: An online decision-aid supports the majority of parents’ diagnostic genomic testing choices for their children	116
Correspondence on “Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome” by Valenzuela et al	97
Adult outcomes of clinically relevant genomic disorders: A systematic review and meta-analysis	87
Correspondence on “Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort” by Akter et al	85
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities	83
The clinical geneticist workforce: Community forums to address challenges and opportunities	82
Scoping review and classification of deep learning in medical genetics	78
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies	77
The PREDICT Study: Medically actionable outcomes and health care utilization of predictive genome sequencing results in a generally healthy adult population	73
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time	70
Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories	69
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder	67
Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries	58
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities	58
Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review	57
Masthead	54
Forced resilience: Indigenous perspectives on systemic barriers and humanizing genomic medicine in British Columbia, Canada	54
Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden	51
Correspondence on “Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants” by Vogel et al	50

Masthead	50
Characterization of central manifestations in patients with Niemann-Pick disease type C	48
Calibrating variant curation by clinical context based on factors that influence patients’ tolerance of uncertainty	48
Clinical implementation of genetic testing in adults for hereditary hematologic malignancy syndromes	47
A comprehensive approach to evaluating the clinical utility of genome sequencing in rare disease: A large prospective Canadian cohort	44
The splicing effect of variants at branchpoint elements in cancer genes	43
Editorial Board	41
Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1	41
CFTR genotype analysis of Asians in international registries highlights disparities in the diagnosis and treatment of Asian patients with cystic fibrosis	40
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome	40
Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada	40
“The truth should not be hidden”: Experiences and recommendations of individuals making NPE discoveries through genetic genealogy databases	40
Genetics providers’ perspectives on the use of digital tools in clinical practice	39
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections	39