Publications by Medical Specialty - Genetics

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

Genetics 

Mutational Analysis in Pediatric Thyroid Cancer and Correlations with Age, Ethnicity, and Clinical Presentation.

Authors: Nikita ME, Jiang W, Cheng SM, Hantash FM, McPhaul MJ, Newbury RO, Phillips SA, Reitz RE, Waldman FM, Newfield RS.
Thyroid 2016;26:227-234

Specialties: Cardiology, Genetics, Pediatrics

Mass Spectrometry in Precision Medicine: Phenotypic Measurements Alongside Pharmacogenomics.

Authors: Clarke NJ.
Clin Chem. 2016;62:70-76

Specialties: Genetics, Pathology, Laboratory Medicine, Toxicology/Pain Management

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

Comparison of cervical cancer screening results among 256,648 women in multiple clinical practices.

Quest Diagnostics Authors: Blatt, A, Kennedy, R, Luff, R, Rabin, D
Authors: Austin RM
Cancer Cytopathol 2015;123:282-288

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

Annotation of Sequence Variants in Cancer Samples: Processes and Pitfalls for Routine Assays in the Clinical Laboratory.

Quest Diagnostics Authors: Arvai, K, Jones, D, Lee, L
J Mol Diagn 2015

Specialties: Genetics, Oncology, Pathology, Laboratory Medicine

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

Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials.

Quest Diagnostics Authors: Devlin, J
Authors: Mega JL, Stitziel NO, Smith JG, Chasman DI, Caulfield MJ, Nordio F, Hyde CL, Cannon CP, Sacks FM, Poulter NR, Sever PS, Ridker PM, Braunwald E, Melander O, Kathiresan S, Sabatine MS
Lancet2015

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Genetics

Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.

Quest Diagnostics Authors: Anguiano, A, Deming, A, Elnaggar, M, Hafezi, K, Hinman, L, Mahon, L, Ross, L, Sahoo, T, Wang, J
Authors: Sanchez-Lara P, Bruno Y, Bartley JA, Liehr T, Jones M
Eur J Hum Genet 2015;23:61-66

Specialties: Genetics, Pathology, Laboratory Medicine