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 2022-06-01 to 2026-06-01.)

Article	Citations
Editorial Board	377
Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories	252
Educational considerations based on medical student use of polygenic risk information and apparent race in a simulated consultation	245
Desperately seeking solutions	170
Editorial Board	164
Table of Contents	150
Correspondence on “Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder” by Rawlins et al	119
Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden	106
Where there is no genetic counselor: An online decision-aid supports the majority of parents’ diagnostic genomic testing choices for their children	91
Masthead	91
Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review	88
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities	84
The clinical geneticist workforce: Community forums to address challenges and opportunities	82
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder	79
Scoping review and classification of deep learning in medical genetics	79
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies	73
Forced resilience: Indigenous perspectives on systemic barriers and humanizing genomic medicine in British Columbia, Canada	72
Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries	67
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome	64
Correspondence on “Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome” by Valenzuela et al	63
Adult outcomes of clinically relevant genomic disorders: A systematic review and meta-analysis	62
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities	61
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time	56
Correspondence on “Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort” by Akter et al	55
Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions	53

“The truth should not be hidden”: Experiences and recommendations of individuals making NPE discoveries through genetic genealogy databases	52
The PREDICT Study: Medically actionable outcomes and health care utilization of predictive genome sequencing results in a generally healthy adult population	52
Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1	50
Masthead	49
Correspondence on “Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants” by Vogel et al	48
Challenges for precision public health communication in the era of genomic medicine	47
Improving racial diversity in the genomics workforce: An examination of challenges and opportunities	45
Characterization of central manifestations in patients with Niemann-Pick disease type C	44
Calibrating variant curation by clinical context based on factors that influence patients’ tolerance of uncertainty	43
De novo variants are a common cause of genetic hearing loss	43
Clinical implementation of genetic testing in adults for hereditary hematologic malignancy syndromes	40
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome	40
Genetics providers’ perspectives on the use of digital tools in clinical practice	39
Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada	39
Using bioinformatic tools to identify high-risk variants of uncertain significance in aortopathy genes that increase aortic dissection risk	39