Publications by Medical Specialty - Genetics

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

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.

Authors: Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, Bardakjian TM, Striano P, Poduri A, Siegert RK, Grant AR, Helbig KL, Mefford HC.
Hum Mutat. 2018 Nov;39(11):1476-1484.

Specialties: Genetics, Neurology

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.

Authors: Kazi ZB, Desai AK, Troxler RB, Kronn D, Packman S, Sabbadini M, Rizzo WB, Scherer K, Abdul-Rahman O, Tanpaiboon P, Nampoothiri S, Gupta N, Feigenbaum A, Niyazov DM, Sherry L, Segel R, McVie-Wylie A, Sung C, Joseph AM, Richards S, Kishnani PS.
Genet Med. 2018 Sep 14. doi: 10.1038/s41436-018-0270-7. [Epub ahead of print]

Specialties: Cardiology, Genetics

Projecting the Supply and Demand for Certified Genetic Counselors: a Workforce Study.

Authors: Hoskovec JM, Bennett RL, Carey ME, DaVanzo JE, Dougherty M, Hahn SE, LeRoy BS, O'Neal S, Richardson JG, Wicklund CA.
J Genet Couns. 2018 Feb;27(1):16-20.

Specialties: Genetics

A Rare Deletion Mutation in the Alpha-globin Gene Locus for Diagnosis of Hemoglobin H Disease

Authors: Chen N, Franklin CR, and Quan F
AMP CAP Today 2018 http://www.captodayonline.com/detection-rare-deletion-mutation-alpha-globin-gene-locus-establishes-diagnosis-hb-h-disease/ 2018;Feb. Accessed February 2018.

Specialties: Genetics

Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes?

Authors: Majidi S, Fouts A, Pyle L, Chambers C, Armstrong T, Wang Z, Batish SD, Klingensmith G, Steck AK
Diabetes Technol Ther. 2018;20(2):106-112. doi: 10.1089/dia.2017.0317.

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Genetics

Projecting the Supply and Demand for Certified Genetic Counselors: a Workforce Study.

Authors: Hoskovec JM, Bennett RL, Carey ME, DaVanzo JE, Dougherty M, Hahn SE, LeRoy BS, O'Neal S, Richardson JG, Wicklund CA
J Genet Couns. 2017 Oct doi: 10.1007/s10897-017-0158-8. [Epub ahead of print]

Specialties: Genetics

Reduced H3K27me3 expression in radiation-associated angiosarcoma of the breast.

Authors: Mentzel T, Kiss K
Virchows Arch. 2017 Oct 5. doi: 10.1007/s00428-017-2242-8. [Epub ahead of print]

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

CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1.

Authors: Hemmat M, Rumple MJ, Mahon LW, Morrow M, Zach T, Anguiano A, Elnaggar MM, Wang BT, Boyar FZ
Mol Cytogenet 2017;10:33

Specialties: Genetics, Neurology, Pediatrics