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

Article	Citations
Editorial Board	371
Desperately seeking solutions	251
Editorial Board	238
Table of Contents	205
Correspondence on “Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder” by Rawlins et al	168
Correspondence on “Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome” by Valenzuela et al	157
Forced resilience: Indigenous perspectives on systemic barriers and humanizing genomic medicine in British Columbia, Canada	145
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome	116
Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions	104
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time	90
Editorial Board	89
The PREDICT Study: Medically actionable outcomes and health care utilization of predictive genome sequencing results in a generally healthy adult population	83
Scoping review and classification of deep learning in medical genetics	83
Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries	79
Correspondence on “Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort” by Akter et al	78
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities	77
The clinical geneticist workforce: Community forums to address challenges and opportunities	74
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder	70
Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories	68
Educational considerations based on medical student use of polygenic risk information and apparent race in a simulated consultation	66
Masthead	62
Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden	61
Adult outcomes of clinically relevant genomic disorders: A systematic review and meta-analysis	60
Where there is no genetic counselor: An online decision-aid supports the majority of parents’ diagnostic genomic testing choices for their children	59
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies	58

Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review	54
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities	54
“The truth should not be hidden”: Experiences and recommendations of individuals making NPE discoveries through genetic genealogy databases	51
A comprehensive approach to evaluating the clinical utility of genome sequencing in rare disease: A large prospective Canadian cohort	50
Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1	49
De novo variants are a common cause of genetic hearing loss	48
Masthead	47
Correspondence on “Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants” by Vogel et al	46
Challenges for precision public health communication in the era of genomic medicine	45
Calibrating variant curation by clinical context based on factors that influence patients’ tolerance of uncertainty	44
The splicing effect of variants at branchpoint elements in cancer genes	42
Clinical implementation of genetic testing in adults for hereditary hematologic malignancy syndromes	42
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder	40
CFTR genotype analysis of Asians in international registries highlights disparities in the diagnosis and treatment of Asian patients with cystic fibrosis	39
Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada	39
Universal tumor screening in a population with MSH6- and PMS2-associated Lynch syndrome	39
Exploring Autistic adults’ perspectives on genetic testing for autism	39