OOIR: Observatory of International Research

Papers

(The H4-Index of American Journal of Human Genetics is 49. 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
Fast two-stage phasing of large-scale sequence data	334
30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?	228
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria	194
Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort	184
Combining evidence from Mendelian randomization and colocalization: Review and comparison of approaches	181
Constrained maximum likelihood-based Mendelian randomization robust to both correlated and uncorrelated pleiotropic effects	173
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care	155
15 years of GWAS discovery: Realizing the promise	150
Optical genome mapping enables constitutional chromosomal aberration detection	138
Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial	137
Topologically associating domain boundaries that are stable across diverse cell types are evolutionarily constrained and enriched for heritability	133
Targeted long-read sequencing identifies missing disease-causing variation	123
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm	119
Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping	106
Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility	90
A unified framework for cross-population trait prediction by leveraging the genetic correlation of polygenic traits	89
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa	86
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies	82
Estimation of non-additive genetic variance in human complex traits from a large sample of unrelated individuals	79
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk	78
A dyadic approach to the delineation of diagnostic entities in clinical genomics	77
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14	76
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype	76
Probabilistic colocalization of genetic variants from complex and molecular traits: promise and limitations	76
Improved pathogenicity prediction for rare human missense variants	75

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases	75
The omnigenic model and polygenic prediction of complex traits	74
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals	73
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup	73
Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years	71
Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks	70
Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice	69
A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants	65
Using genetic association data to guide drug discovery and development: Review of methods and applications	65
Systematic comparison of family history and polygenic risk across 24 common diseases	65
De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families	65
Genetic control of the human brain proteome	64
Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia	64
Massively parallel characterization of CYP2C9 variant enzyme activity and abundance	64
Somatic MAP3K3 mutation defines a subclass of cerebral cavernous malformation	61
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN	59
Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice	58
Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations	58
A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos	57
Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans	56
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies	55
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females	54
Opportunities and challenges for the computational interpretation of rare variation in clinically important genes	51
Leveraging phenotypic variability to identify genetic interactions in human phenotypes	51
Disentangling selection on genetically correlated polygenic traits via whole-genome genealogies	49
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population	49