Publications by Medical Specialty - Genetics

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

R634W KIT Mutation in an Adult With Systemic Mastocytosis.

Authors: Astle JM, Rose MG, Racke FK, Tormey CA, Siddon AJ.
Lab Med. 2017 doi: 10.1093/labmed/lmx026. [Epub ahead of print]

Specialties: Genetics, Hematology/Hemostasis/Thrombosis, Oncology

Patients with McCune-Albright syndrome have a broad spectrum of abnormalities in the gastrointestinal tract and pancreas.

Authors: Wood LD, Noë M, Hackeng W, Brosens LA, Bhaijee F, Debeljak M, Yu J, Suenaga M, Singhi AD, Zaheer A, Boyce A, Robinson C, Eshleman JR, Goggins MG, Hruban RH, Collins MT, Lennon AM, Montgomery EA.
Virchows Arch. 2017;470:391-400

Specialties: Gastroenterology, Genetics, Oncology, Pathology

Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS).

Authors: Strom CM, Anderson B, Tsao D1, Zhang K, Liu Y, Livingston K, Elzinga C2, Evans M, Nguyen Q, Wolfson D, Rowland C, Kolacki P, Maxwell M, Wang JC, Rabin D, Catanese J, Owen R, Braastad C, Sun W.
PLoS One. 2017;12:e0167130

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

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Armc5 deletion causes developmental defects and compromises T-cell immune responses

Authors: Hu Y, Lao L, Mao J, Jin W, Luo H, Charpentier T, Qi S, Peng J, Hu B, Marcinkiewicz MM, Lamarre A, Wu J.
Nat Commun. 2017 Feb 7;8:13834

Specialties: 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. 2017;19:112-120.

Specialties: General Health and Wellness, Genetics, Health Information Technology

Bringing Precision Medicine to Community Oncologists.

Authors: [No authors listed]
Cancer Discov. 2017;7:6-7.

Specialties: Genetics, Health Information Technology, Oncology

Two novel mutations in KIND1 in Indian patients with Kindler syndrome.

Authors: Kantheti P, Kubba A, Prabhu A, Batrani M, Hiremagalore R.
Clin Exp Dermatol. 2017;42:95-97

Specialties: Dermatology, Genetics