David L Masica

发表

Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework

Elizabeth Brunk, Binghuang Cai, Yang Zhang, 2017, Genome Medicine.

Network Analysis of Protein Adaptation: Modeling the Functional Impact of Multiple Mutations

Yunfan Fan, Rachel Karchin, David L. Masica, 2018, Molecular biology and evolution.

Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.

Rachel Karchin, David L Masica, R. Karchin, 2015, Human molecular genetics.

Phenotype‐optimized sequence ensembles substantially improve prediction of disease‐causing mutation in cystic fibrosis

Rachel Karchin, David L. Masica, David L Masica, 2012, Human mutation.

A combination of molecular markers and clinical features improve the classification of pancreatic cysts.

Jin-Young Jang, Amanda Blackford, Mari Mino-Kenudson, 2015, Gastroenterology.

Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.

Chunling Hu, Rachel Karchin, Fergus J Couch, 2018, American journal of human genetics.

CRAVAT 4: Cancer-Related Analysis of Variants Toolkit

Collin Tokheim, Michael C. Ryan, Rachel Karchin, 2017, bioRxiv.

Neutron reflectometry studies of the adsorbed structure of the amelogenin, LRAP.

David L. Masica, David L Masica, Paul Kienzle, 2013, The journal of physical chemistry. B.

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

George P Patrinos, Rachel Karchin, David L. Masica, 2013, Nature Genetics.