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Circulation. Genomic and Precision Medicine|February 16, 2024
Multiplexed Functional Assessments of <i>MYH7</i> Variants in Human CardiomyocytesClayton E Friedman, Shawn Fayer, Sriram Pendyala, et al.
Nutrition, Metabolism, and Cardiovascular Diseases : NMCD|August 12, 2016
Baseline metabolic disturbances and the twenty-five years risk of incident cancer in a Mediterranean populationD Noto, A B Cefalù, C M Barbagallo, et al.
Clinical Immunology (Orlando, Fla.)|March 31, 2012
CD40 agonist antibody mediated improvement of chronic Cryptosporidium infection in patients with X-linked hyper IgM syndromeXiying Fan, Bhaskar Upadhyaya, Liming Wu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 14, 2018
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq ProjectCasie A Genetti, Talia S Schwartz, Jill O Robinson, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2018
Reconciling newborn screening and a novel splice variant in <i>BTD</i> associated with partial biotinidase deficiency: a BabySeq Project case reportJaclyn B Murry, Kalotina Machini, Ozge Ceyhan-Birsoy, et al.
Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
Defining and Reducing Variant Classification DisparitiesMoez Dawood, Shawn Fayer, Sriram Pendyala, et al.
Genome Medicine|December 4, 2024
Using multiplexed functional data to reduce variant classification inequities in underrepresented populationsMoez Dawood, Shawn Fayer, Sriram Pendyala, et al.
Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Saturation genome editing of <i>BARD1</i> resolves VUS and provides insight into BRCA1-BARD1 tumor suppressionIvan Woo, Silvia Casadei, Matthew W Snyder, et al.
Biorxiv : the Preprint Server for Biology|July 9, 2025
Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effectsSriram Pendyala, Katie Partington, Nicholas Bradley, et al.
Medrxiv : the Preprint Server for Health Sciences|November 26, 2025
Editing stem cell genomes at scale to measure variant effects in diverse cell and genetic contextsShawn Fayer, Riddhiman K Garge, Melissa Hopkins, et al.
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