Publications

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

Association of CETP Gene Variants with Atherogenic Dyslipidemia Among Thai Patients Treated with Statin

Authors: Srisawasdi P, Rodcharoen P, Vanavanan S, Chittamma A, Sukasem C, Na Nakorn C, Dejthevaporn C, Kroll MH.
Pharmgenomics Pers Med. 2021 Jan 6;14:1-13. doi: 10.2147/PGPM.S278671. eCollection 2021.

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Changes in test volumes during coronavirus disease 2019 (COVID-19): a laboratory stewardship opportunity

Authors: Ila R Singh, Michael Dowlin, Thomas H Chong, Jon M Nakamoto, Lee H Hilborne
Arch Pathol Lab Med 2021 Mar 25. doi: 10.5858/arpa.2021-0058-SA. Online ahead of print.

Specialties: COVID-19

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

Authors: Hathaway J, Heliö K, Saarinen I, Tallila J, Seppälä EH, Tuupanen S, Turpeinen H, Kangas-Kontio T, Schleit J, Tommiska J, Kytölä V, Valori M, Muona M, Sistonen J, Gentile M, Salmenperä P, Myllykangas S, Paananen J, Alastalo TP, Heliö T, Koskenvuo J.
BMC Cardiovasc Disord. 2021 Mar 5;21(1):126. doi: 10.1186/s12872-021-01927-5.

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Genetics

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

Authors: Huang Y, Sharma R, Feigenbaum A, Lee C, Sahai I, Sanchez Russo R, Neira J, Brooks SS, Jackson KE, Wong D, Cederbaum S, Lacbawan FL, Rowland CM, Tanpaiboon P, Salazar D.
Mol Genet Metab Rep. 2021 Mar 3;27:100735. doi: 10.1016/j.ymgmr.2021.100735. eCollection 2021 Jun.

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

A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype

Authors: Soliani L, Spagnoli C, Salerno GG, Mehine M, Rizzi S, Frattini D, Koskenvuo J, Fusco C.
J Neuroophthalmol. 2021 Mar 1;41(1):e85-e88. doi: 10.1097/WNO.0000000000000921.

Specialties: Genetics, Neurology

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

Assessing comfort level with pediatric skin specimens among dermatopathologists and pediatric pathologists: a national cross-sectional survey

Authors: Enos T, Hughes C, Kelley S, Mir A, Rakheja D, Vandergriff T.
J Cutan Pathol. 2021 Feb 26. doi: 10.1111/cup.13997. Online ahead of print.

Specialties: Dermatology

Disclaimer: One or more of the authors of this publication were employed at the time by DermPath, a subsidiary of Quest Diagnostics.

Association of SARS-CoV-2 Seropositive Antibody Test With Risk of Future Infection

Authors: Harvey RA, Rassen JA, Kabelac CA, Turenne W, Leonard S, Klesh R, Meyer WA 3rd, Kaufman HW, Anderson S, Cohen O, Petkov VI, Cronin KA, Van Dyke AL, Lowy DR, Sharpless NE, Penberthy LT.
JAMA Intern Med. 2021 Feb 24. doi: 10.1001/jamainternmed.2021.0366. Online ahead of print.

Specialties: COVID-19, Infectious Disease

Two Adult Cases of Multisystem Inflammatory Syndrome Associated with SARS-CoV-2

Authors: Mieczkowska K, Zhu TH, Hoffman L, Blasiak RC, Shulman KJ, Birnbaum M, Ciocon DH, Srikantha R, McLellan BN.
JAAD Case Rep. 2021 Feb 23. doi: 10.1016/j.jdcr.2021.02.015.

Specialties: COVID-19, Infectious Disease

Disclaimer: One or more of the authors of this publication were employed at the time by DermPath, a subsidiary of Quest Diagnostics.

Antibody affinity maturation and plasma IgA associate with clinical outcome in hospitalized COVID-19 patients

Authors: Tang J, Ravichandran S, Lee Y, Grubbs G, Coyle EM, Klenow L, Genser H, Golding H, Khurana S.
Nat Commun. 2021 Feb 22;12(1):1221. doi: 10.1038/s41467-021-21463-2.

Specialties: COVID-19, Infectious Disease

Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study

Authors: Maron JL, Kingsmore SF, Wigby K, Chowdhury S, Dimmock D, Poindexter B, Suhrie K, Vockley J, Diacovo T, Gelb BD, Stroustrup A, Powell CM, Trembath A, Gallen M, Mullen TE, Tanpaiboon P, Reed D, Kurfiss A, Davis JM.
JAMA Pediatr. 2021 Feb 15;e205906. doi: 10.1001/jamapediatrics.2020.5906. Online ahead of print.

Specialties: Genetics, Neurology