Publications by Category - Genetics

These publications were authored or co-authored by Quest Diagnostics staff.

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Authors: Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, Strom C
Hum Mutat. 2016;37:127-134

Specialties: Genetics, Oncology, Women's Health/OB/GYN

Genetic risk for atrial fibrillation could motivate patient adherence to warfarin therapy: a cost effectiveness analysis.

Authors: Shiffman D, Perez MV, Bare LA, Louie JZ, Arellano AR, Devlin JJ
BMC Cardiovasc Disord. 2015;15:104

Specialties: Cardiology, Genetics

Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory

Authors: Strom CM, Rivera S, Elzinga C, Angeloni T, Rosenthal SH, Goos-Root D, Siaw M, Platt J, Braastadt C, Cheng L, Ross D, Sun W.
PLoSOne 2015;10(8):e0136419.

Specialties: Genetics, Oncology

Chromothriptic cure of WHIM syndrome.

Quest Diagnostics Authors: Dai, Z, Hsu, N
Authors: McDermott DH, Gao JL, Liu Q, Siwicki M, Martens C, Jacobs P, Velez D, Yim E, Bryke CR, Marquesen MM, Stregevsky E, Kwatemaa N, Theobald N, Long Priel DA, Pittaluga S, Raffeld MA, Calvo KR, Maric I, Desmond R, Holmes KL, Kuhns DB, Balabanian K, Bachelerie
Cell 2015;160:686-699

Specialties: Dermatology, Genetics