Publications by authors named "Larry Babb"

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Improving the FAIRness and Sustainability of the NHGRI Resources Ecosystem.
Larry Babb, Carol Bult, Vincent J Carey, Robert J Carroll, Benjamin C Hitz

ArXiv· August 2025

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An Investigation of the Knowledge Overlap between Pharmacogenomics and Disease Genetics.
Binglan Li, Michelle Whirl-Carrillo, Matt W Wright, Larry Babb, Heidi L Rehm

Pac Symp Biocomput· January 2022

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The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Kent A Shefchek, Nomi L Harris, Michael Gargano, Nicolas Matentzoglu, Deepak Unni, Larry Babb

Nucleic Acids Res· January 2020

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ClinGen Allele Registry links information about genetic variants.
Piotr Pawliczek, Ronak Y Patel, Lillian R Ashmore, Andrew R Jackson, Chris Bizon, Larry Babb

Hum Mutat· November 2018

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ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.
Ronak Y Patel, Neethu Shah, Andrew R Jackson, Rajarshi Ghosh, Piotr Pawliczek, Larry Babb

Genome Med· January 2017

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Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Ahmed A Alfares, Melissa A Kelly, Gregory McDermott, Birgit H Funke, Matthew S Lebo, Larry J Babb

Genet Med· November 2015

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CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Ahmed A Alfares, Melissa A Kelly, Gregory McDermott, Birgit H Funke, Matthew S Lebo, Larry J Babb

Genet Med· April 2015

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