Publications by Medical Specialty - Genetics

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

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

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

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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.

Specialties: Genetics, Oncology

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]

Specialties: Genetics, Oncology

Donnai-Barrow Syndrome.

Authors: Longoni M, Kantarci S, Donnai D, Pober BR.
GeneReviews® [Internet] [updated 2018 Nov 21] Initial Posting: August 28, 2008

Specialties: Genetics, Neurology

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

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

Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts

Authors: Rabinowitz NZ, Yokoyama JS, Bright AR, Lee SE, Fong JC, Karydas A, Bonham LW, Karbassi ID, Pribadi M, Meservey MA, Gallen M, Ramos EM, Liaquat K, Hoffman C, Krasner M, Dodge W, Rosen HJ, Boxer AL, Geschwind MD, Rankin KP, Coppola G, Miller BL, Higgins JJ
Adv Genomics Genet. 2018 Oct 25 vol 8:23–33

Specialties: Genetics, Geriatrics/Age Management, Neurology

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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