OOIR: Observatory of International Research

Papers

(The H4-Index of Genetics in Medicine is 45. 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 2021-08-01 to 2025-08-01.)

Article	Citations
Table of Contents	503
Desperately seeking solutions	413
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder	396
Editorial Board	240
Table of Contents	230
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)	211
Editorial Board	184
eP169: A case report of Ververi-Brady syndrome: Expanding the genotype and phenotype	157
eP256: Intrafamilial variability in chromosome 2q13 microdeletion: Case report and review of the literature	149
eP162: Mosaic variant in ENG in infant with pulmonary arteriovenous malformations: Case report and review of hereditary hemorrhagic telangiectasia	124
eP498: Detection of congenital cytomegalovirus infection on high-risk newborn population	116
OP037: Assessing the impact of expanded ACMG secondary findings recommendations on population genomic screening in the Geisinger MyCode Community Health Initiative	113
eP033: COASY-associated pontocerebellar hypoplasia – A possible additional secondary target detectable by expanded newborn screening?	112
eP049: Discordant fluorescence in situ hybridization and RNASeq results in the identification of fusion partners in recurring translocations in hematological malignancies	99
eP179: Expanding the phenotype of CLCN6-associated early-onset neurodegeneration	98
eP290: A mosaic Angelman syndrome case with language apraxia and symptoms overlapping Prader-Willi syndrome	80
eP234: SERPINA1 sequencing facilitates detection of undiagnosed Alpha-1 antitrypsin deficiency	79
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time	74
Correspondence on “Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort” by Akter et al	74
OP055: Comparing error rates in disclosure of genome sequencing results between non-genetics providers and genetic counselors	71
Educational considerations based on medical student use of polygenic risk information and apparent race in a simulated consultation	70
Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review	65
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities	64
Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories	64
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities	62

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency	62
The clinical geneticist workforce: Community forums to address challenges and opportunities	60
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes	59
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies	57
Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype–phenotype correlation in congenital central hypoventilation syndrome (CCHS)	56
Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions	55
Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries	53
Scoping review and classification of deep learning in medical genetics	51
Where there is no genetic counselor: An online decision-aid supports the majority of parents’ diagnostic genomic testing choices for their children	50
Editorial Board	49
Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden	49
Masthead	49
Increasing inclusivity in precision medicine research: Views of deaf and hard of hearing individuals	48
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome	48
eP229: A case report of a complex chromosome 8 rearrangement with partial monosomy of 8p and partial trisomy of 8q	47
eP114: De novo prenatal diagnosis of X-linked Acromegaly Gigantism (X-LAG)	47
eP358: Genetic findings in a cohort of patients with pulmonary arterial hypertension referred for NGS panel testing	46
eP263: A pathogenic deletion at 13q32.1q33.1 presenting with bilateral sensorineural hearing loss and pigmentation anomalies, mimicking Waardenburg syndrome	46
eP509: Implementation and impact of dedicated inpatient genetic counselors in a children’s hospital	45
eP512: Identifying clinical and psychological factors associated with genomics-related outcomes in a centralized sequencing protocol	45