OOIR: Observatory of International Research

Papers

(The H4-Index of Genetics in Medicine is 47. 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 2020-03-01 to 2024-03-01.)

Article	Citations
ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)	325
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation	264
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (	219
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)	132
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)	122
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases	120
The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)	115
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)	115
X-linked diseases: susceptible females	107
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance	91
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics	85
Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)	84
Clinical outcomes of a genomic screening program for actionable genetic conditions	80
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders	80
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men	79
The implementation of newborn screening for spinal muscular atrophy: the Australian experience	78
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield	78
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants	76
Role of POLE and POLD1 in familial cancer	74
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data	73
Deletion of the NKG2C receptor encoding KLRC2 gene and HLA-E variants are risk factors for severe COVID-19	71
Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)	68
The 2019 US medical genetics workforce: a focus on clinical genetics	65
Clinical impact of genomic testing in patients with suspected monogenic kidney disease	65
Systematic review of the evidence on the cost-effectiveness of pharmacogenomics-guided treatment for cardiovascular diseases	64

Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care	64
The morbid genome of ciliopathies: an update	63
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)	61
Individuals with Down syndrome hospitalized with COVID-19 have more severe disease	60
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness	59
Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants	57
The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review	57
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4	57
Frequency of genomic secondary findings among 21,915 eMERGE network participants	56
A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism	56
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy	54
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations	54
Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)	54
Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis	54
A genomics approach to male infertility	54
Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq	54
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls	54
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening	54
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation	53
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification	50
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study	49
The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources	48
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Varia	47
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease	47