OOIR: Observatory of International Research

Papers

(The H4-Index of American Journal of Human Genetics is 55. 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 2020-04-01 to 2024-04-01.)

Article	Citations
Fast two-stage phasing of large-scale sequence data	251
30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?	168
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care	139
The Genetic Landscape and Epidemiology of Phenylketonuria	135
Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort	135
Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk	123
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria	120
Genotyping Array Design and Data Quality Control in the Million Veteran Program	117
Topologically associating domain boundaries that are stable across diverse cell types are evolutionarily constrained and enriched for heritability	113
Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial	111
Optical genome mapping enables constitutional chromosomal aberration detection	109
Insufficient Evidence for “Autism-Specific” Genes	107
Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility	106
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm	106
Constrained maximum likelihood-based Mendelian randomization robust to both correlated and uncorrelated pleiotropic effects	106
Combining evidence from Mendelian randomization and colocalization: Review and comparison of approaches	103
Targeted long-read sequencing identifies missing disease-causing variation	102
Genetic Consequences of the Transatlantic Slave Trade in the Americas	96
Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups	90
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy	88
Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping	87
High-Throughput Reclassification of SCN5A Variants	86
A Fast and Simple Method for Detecting Identity-by-Descent Segments in Large-Scale Data	85
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases	82
Accurate and Scalable Construction of Polygenic Scores in Large Biobank Data Sets	78

Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?	76
Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest	76
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa	76
15 years of GWAS discovery: Realizing the promise	74
Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility	74
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies	72
A unified framework for cross-population trait prediction by leveraging the genetic correlation of polygenic traits	72
A dyadic approach to the delineation of diagnostic entities in clinical genomics	71
Localizing Components of Shared Transethnic Genetic Architecture of Complex Traits from GWAS Summary Data	71
Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice	69
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals	68
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility	66
Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility	65
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype	63
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism	62
A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants	62
Probabilistic colocalization of genetic variants from complex and molecular traits: promise and limitations	62
Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks	61
Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos	61
The omnigenic model and polygenic prediction of complex traits	61
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk	60
Estimation of non-additive genetic variance in human complex traits from a large sample of unrelated individuals	60
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases	60
Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years	60
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project	59
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes	57
De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families	56
Fostering Responsible Research on Ancient DNA	56
Combined Utility of 25 Disease and Risk Factor Polygenic Risk Scores for Stratifying Risk of All-Cause Mortality	55
Somatic MAP3K3 mutation defines a subclass of cerebral cavernous malformation	55