OOIR: Observatory of International Research

Papers

(The H4-Index of Genetics in Medicine is 43. 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 2021-11-01 to 2025-11-01.)

Article	Citations
Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden	431
Masthead	281
Correspondence on “Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder” by Rawlins et al	228
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome	188
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder	158
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time	138
Editorial Board	129
Scoping review and classification of deep learning in medical genetics	120
Where there is no genetic counselor: An online decision-aid supports the majority of parents’ diagnostic genomic testing choices for their children	111
The clinical geneticist workforce: Community forums to address challenges and opportunities	88
Correspondence on “Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort” by Akter et al	86
Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories	84
Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries	81
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies	77
Increasing inclusivity in precision medicine research: Views of deaf and hard of hearing individuals	73
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency	70
Editorial Board	69
eP234: SERPINA1 sequencing facilitates detection of undiagnosed Alpha-1 antitrypsin deficiency	68
Desperately seeking solutions	67
Educational considerations based on medical student use of polygenic risk information and apparent race in a simulated consultation	67
eP033: COASY-associated pontocerebellar hypoplasia – A possible additional secondary target detectable by expanded newborn screening?	66
eP162: Mosaic variant in ENG in infant with pulmonary arteriovenous malformations: Case report and review of hereditary hemorrhagic telangiectasia	64
eP256: Intrafamilial variability in chromosome 2q13 microdeletion: Case report and review of the literature	64
Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review	59
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes	57

eP049: Discordant fluorescence in situ hybridization and RNASeq results in the identification of fusion partners in recurring translocations in hematological malignancies	57
eP179: Expanding the phenotype of CLCN6-associated early-onset neurodegeneration	55
Editorial Board	54
eP290: A mosaic Angelman syndrome case with language apraxia and symptoms overlapping Prader-Willi syndrome	54
eP169: A case report of Ververi-Brady syndrome: Expanding the genotype and phenotype	54
OP037: Assessing the impact of expanded ACMG secondary findings recommendations on population genomic screening in the Geisinger MyCode Community Health Initiative	53
OP055: Comparing error rates in disclosure of genome sequencing results between non-genetics providers and genetic counselors	52
Table of Contents	51
eP498: Detection of congenital cytomegalovirus infection on high-risk newborn population	51
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities	51
Table of Contents	49
Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions	48
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities	48
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)	48
Correspondence on “Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants” by Vogel et al	44
Masthead	44
Improving racial diversity in the genomics workforce: An examination of challenges and opportunities	44
Characterization of central manifestations in patients with Niemann-Pick disease type C	44
eP073: Interstitial deletion of 3q21 in a child with multiple congenital anomalies; Expanding the phenotype	43