Publications by Medical Specialty - Genetics

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

Next-Generation Sequencing in High-Sensitive Detection of Mutations in Tumors: Challenges, Advances and Applications

Authors: Singh RR
J Mol Diagn. 2020 May 29:S1525-1578(20)30330-5. doi: 10.1016/j.jmoldx.2020.04.213.

Specialties: Genetics, Oncology

Impacts of Genesurance Considerations on Genetic Counselors' Practice and Attitudes

Authors: Thoreson E, Murphy L, Lemons J, Farach L, Wilson K, Woodson A, Wagner C.
J Genet Couns. 2020 May 20. doi: 10.1002/jgc4.1291. Online ahead of print.

Specialties: Genetics

Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Authors: Bean LJH, Funke B, Carlston CM, Gannon JL, Kantarci S, Krock BL, Zhang S, Bayrak-Toydemir P
Genet Med. 2019 Nov 16. doi: 10.1038/s41436-019-0666-z. [Epub ahead of print]

Specialties: Genetics

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Authors: Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.
Genet Med. 2019 Nov 6. doi: 10.1038/s41436-019-0686-8. [Epub ahead of print]

Specialties: Genetics

Evolving Roles of Genetic Counselors in the Clinical Laboratory.

Authors: Cho MT and Guy C.
Cold Spring Harb Perspect Med 2019 Sep 30. doi: 10.1101/cshperspect.a036574. [Epub ahead of print]

Specialties: Genetics

Erythrocyte ion content and dehydration modulate maximal Gardos channel activity in KCNN4 V282M/+ Hereditary Xerocytosis (HX) red cells.

Authors: Rivera A, Vandorpe DH, Shmukler BE, Andolfo I, Iolascon A, Archer NM, Shabani E, Auerbach M, Hamerschlak N, Morton J, Wohlgemuth JG, Brugnara C, Snyder LM, Alper SL.
Am J Physiol Cell Physiol. 2019 May 15. doi: 10.1152/ajpcell.00074.2019. [Epub ahead of print]

Specialties: General Health and Wellness, Genetics

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Genetic counseling job market in the United States and Canada: An analysis of job advertisements 2014-2016.

Authors: Burns K, Swanson A, Hoskovec J, Leonhard J, Hahn S, Stein QP.
J Genet Counsl. 2019 May 6. doi: 10.1002/jgc4.1129. [Epub ahead of print]

Specialties: Genetics

Laboratory validation of a clinical metagenomic sequencing assay for pathogen detection in cerebrospinal fluid.

Authors: Miller S, Naccache SN, Samayoa E, Messacar K, Arevalo S, Federman S, Stryke D, Pham E, Fung B, Bolosky WJ, Ingebrigtsen D, Lorizio W, Paff SM, Leake JA, Pesano R, DeBiasi R, Dominguez S, Chiu CY
Genomer Res. 2019 May;29:831-842. [Epub 2019 Apr 16.]

Specialties: Genetics, Neurology