Publications by Medical Specialty - Genetics

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

Frequency and Complexity of De Novo Structural Mutation in Autism.

Authors: Brandler WM, Antaki D, Gujral M, Noor A, Rosanio G, Chapman TR, Barrera DJ, Lin GN, Malhotra D, Watts AC, Wong LC, Estabillo JA, Gadomski TE, Hong O, Fajardo KV, Bhandari A, Owen R, Baughn M, Yuan J, Solomon T, Moyzis AG, Maile MS, Sanders SJ, Reiner GE, Vaux KK, Strom CM, Zhang K, Muotri AR, Akshoomoff N, Leal SM, Pierce K, Courchesne E, Iakoucheva LM, Corsello C, Sebat J
Am J Hum Genet. 2016;98:667-679

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

A novel method for simultaneous quantification of alpha-aminoadipic semialdehyde/piperideine-6-carboxylate and pipecolic acid in plasma and urine.

Authors: Yuzyuk T, Liu A, Thomas A, Wilson JE, De Biase I, Pasquali M.
J Chromatogr B Analyt Technol Biomed Life Sci. 2016;1017-1018:145-52

Specialties: Genetics, Pathology, Laboratory Medicine

Risk prediction by genetic risk scores for coronary heart disease is independent of self-reported family history.

Authors: Tada H, Melander O, Louie JZ, Catanese JJ, Rowland CM, Devlin JJ, Kathiresan S, Shiffman D.
Eur Heart J. 2016;37:561-567

Specialties: Cardiology, General Health and Wellness, 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

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