Award

R01CA121245

Funder: National Institutes of Health

Funded outputs count: 13

Funder award ID: R01CA121245

OpenAlex ID: G9000027870

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

2024 · Shantanu Jain, Constantina Bakolitsa, et al. · Genome biology · 60

Structural Insights into γH2Ax containing Nucleosomes

2023 · Rashmi Panigrahi, Ross Edwards, et al. · bioRxiv (Cold Spring Harbor Laboratory)

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

2022 · Vikas Pejaver, Alicia B. Byrne, et al. · The American Journal of Human Genetics · 579

Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions

2022 · Kathleen A. Clark, Andrew Paquette, et al. · The American Journal of Human Genetics · 21

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

2019 · Sarah E. Brnich, Ahmad N. Abou Tayoun, et al. · Genome Medicine · 638

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

2018 · Sean V. Tavtigian, Marc S. Greenblatt, et al. · Genetics in Medicine · 581

Resolving the Functional Significance of BRCA1 RING Domain Missense Substitutions

2016 · Andrew Paquette, Kayoko Tao, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2

ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry

2016 · Anne-Laure Renault, Fabienne Lesueur, et al. · PLoS ONE · 11

Multigene testing of moderate-risk genes: be mindful of the missense

2016 · E L Young, B J Feng, et al. · Journal of Medical Genetics · 34

Rare key functional domain missense substitutions in MRE11A, RAD50, and NBNcontribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study

2014 · Francesca Damiola, Maroulio Pertesi, et al. · Breast Cancer Research · 108

RAD51 and Breast Cancer Susceptibility: No Evidence for Rare Variant Association in the Breast Cancer Family Registry Study

2012 · Florence Le Calvez-Kelm, Javier Oliver, et al. · PLoS ONE · 33

Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2

2011 · Tú Nguyen-Dumont, Lars P Jordheim, et al. · BMC Medical Genomics · 7

Tests of association for rare variants: case control mutation screening

2011 · Sean V. Tavtigian, Mia Hashibe, et al. · Nature Reviews Genetics · 6

Rare, evolutionarily unlikely missense substitutions in CHEK2contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study

2011 · Florence Le Calvez-Kelm, Fabienne Lesueur, et al. · Breast Cancer Research · 86