Publications by Medical Specialty - Genetics

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

Genetics 

Electronic health record interventions at the point of care improve documentation of care processes and decrease orders for genetic tests commonly ordered by nongeneticists.

Authors: Scheuner MT, Peredo J, Tangney K, Schoeff D, Sale T, Lubick-Goldzweig C, Hamilton A, Hilborne L, Lee M, Mittman B, Yano EM, Lubin IM.
Genet Med. 2016-06-30 [Epub ahead of print]

Specialties: Genetics, Health Information Technology

KIF6 719Arg Genetic Variant and Risk for Thoracic Aortic Dissection

Authors: Iakoubova O, Tong C, Catanese J, Rowland C, Luke M, Tranquilli M, Elefteriades JA
Aorta (Stamford). 2016;4:83-90

Specialties: Cardiology, Genetics

Interstitial Chromosome 3p14.1 Deletion due to a Maternal Insertion: Phenotype and Association with Balanced Parental Rearrangement.

Authors: Hajek C, Wang J, Mahon L, Martinez A, Saitta SC.
Mol Syndromol. 2016;7:43-48

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

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

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