Publications by Category - Genetics

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

BRCA Share: A Collection of Clinical BRCA Gene Variants.

Authors: Beroud C, Letovsky SI, Braastad CD, Caputo SM, Beaudoux O, Bignon YJ, Bressac-De Paillerets B, Bronner M, Buell CM, Collod-Beroud G, Coulet F, Derive N, Divincenzo C, Elzinga CD, Garrec C, Houdayer C, Karbassi I, Lizard S, Love A, Muller D, Nagan N, Nery CR, Rai G, Revillion F, Salgado D, Sévenet N, Sinilnikova O, Sobol H, Stoppa-Lyonnet D, Toulas C, Trautman E, Vaur D, Vilquin P, Weymouth KS, Willis A
Hum Mutat. 2016;37:1318-1328.

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

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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

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