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 2020-11-01 to 2024-11-01.)

Article	Citations
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation	381
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)	365
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 (	281
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)	174
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)	173
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)	164
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders	105
ACMG SF v3.2 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)	104
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men	99
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation	92
Clinical outcomes of a genomic screening program for actionable genetic conditions	87
The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources	82
The 2019 US medical genetics workforce: a focus on clinical genetics	82
Deletion of the NKG2C receptor encoding KLRC2 gene and HLA-E variants are risk factors for severe COVID-19	81
Role of POLE and POLD1 in familial cancer	80
Clinical impact of genomic testing in patients with suspected monogenic kidney disease	79
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	78
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)	78
Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants	72
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification	70
Health equity in the implementation of genomics and precision medicine: A public health imperative	69
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening	66
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	65
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls	65
Individuals with Down syndrome hospitalized with COVID-19 have more severe disease	65

A genomics approach to male infertility	63
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (AC	61
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants	55
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies	52
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation	51
Expanding evidence leads to new pharmacogenomics payer coverage	51
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project	51
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility	51
Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: a systematic review	50
Centers for Mendelian Genomics: A decade of facilitating gene discovery	50
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study	49
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes	49
Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort	49
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency	49
DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)	48
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes	48
Returning integrated genomic risk and clinical recommendations: The eMERGE study	46
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)	46
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies	45
Phase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children	45
Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis	45