Publications by Medical Specialty - Genetics
These publications were authored or co-authored by Quest Diagnostics staff.
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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
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.]
Effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray on detection of copy number variants and uniparental disomy in prenatal diagnosis: Results from 5026 pregnancies.
Authors: Wang JC, Radcliff J, Coe SJ, Mahon LW.
Prenat Diagn. 2019 Feb;39(3):137-156.
Specialties: Genetics, Women's Health/OB/GYN
Prenatal cell-free DNA screening for fetal aneuploidy in pregnant women at average or high risk: Results from a large US clinical laboratory.
Authors: Guy C, Haji-Sheikhi F, Rowland CM, Anderson B, Owen R, Lacbawan FL, Alagia DP
Mol Genet Genomic Med. 2019 Jan 31:e545. doi: 10.1002/mgg3.545. [Epub ahead of print]
Specialties: Genetics, Women's Health/OB/GYN
Assessing copy number aberrations and copy-neutral loss-of-heterozygosity across the genome as best practice: An evidence-based review from the Cancer Genomics Consortium (CGC) working group for chronic lymphocytic leukemia.
Authors: Chun K, Wenger GD, Chaubey A, Dash DP, Kanagal-Shamanna R, Kantarci S, Kolhe R, Van Dyke DL, Wang L, Wolff DJ, Miron PM.
Cancer Genet. 2018 Dec;228-229:236-250.
PAX5, NOTCH3, CBFB, and ACD drive an activated RAS pathway and monosomy 7 to B-ALL and AML in donor cell leukemia.
Authors: Assi R, Mahfouz R, Owen R, Gunthorpe M, Chehab FF, Bazarbachi A.
Bone Marrow Transplant. 2018 Dec 10. doi: 10.1038/s41409-018-0419-7. [Epub ahead of print]
Donnai-Barrow Syndrome.
Authors: Longoni M, Kantarci S, Donnai D, Pober BR.
GeneReviews® [Internet] [updated 2018 Nov 21] Initial Posting: August 28, 2008
Leukocyte Nucleus Reveals a Linear Order of Chromosomes Separated in Two Parental Genomes That Favors the Process of Gene Activation.
Authors: Chaudhuri JP, Karamanov S, Scott L, Liehr T, Walther JU.
J Histochem Cytochem. 2018 Nov 19:22155418812879. doi: 10.1369/0022155418812879. [Epub ahead of print]
Specialties: Genetics