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

Decreases in Hepatitis C Testing and Treatment During the COVID-19 Pandemic

Authors: Kaufman HW, Bull-Otterson L, Meyer III WA, Huang X, Doshani M, Thompson WW, Osinubi A, Khan MA, Harris A, Gupta N, Van Handel M, Wester C, Mermin J, Nelson N
Am J Prev Med. 2021 May10; https://doi.org/10.1016/j.amepre.2021.03.011 Online ahead of print

Specialties: COVID-19, Infectious Disease

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Response to brentuximab vedotin versus physician's choice by CD30 expression and large cell transformation status in patients with mycosis fungoides: An ALCANZA sub-analysis

Authors: Kim YH, Prince HM, Whittaker S, Horwitz SM, Duvic M, Bechter O, Sanches JA, Stadler R, Scarisbrick J, Quaglino P, Zinzani PL, Wolter P, Eradat H, Pinter-Brown LC, Ortiz-Romero PL, Akilov OE, Trotman J, Taylor K, Weichenthal M, Walewski J, Fisher D, McNeeley M, Gru AA, Brown L, Palanca-Wessels MC, Lisano J, Onsum M, Bunn V, Little M, Trepicchio WL, Dummer R.
Eur J Cancer. 2021 May;148:411-421. doi: 10.1016/j.ejca.2021.01.054. Epub 2021 Mar 29.

Specialties: Oncology

Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms

Authors: Rosenthal SH, Gerasimova A, Ma C, Li HR, Grupe A, Chong H, Acab A, Smolgovsky A, Owen R, Elzinga C, Chen R, Sugganth D, Freitas T, Graham J, Champion K, Bhattacharya A, Racke F, Lacbawan F.
PLoS One. 2021 Apr 28;16(4):e0243683. doi: 10.1371/journal.pone.0243683. eCollection 2021.

Specialties: Oncology

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 III WA, Kaufman HW, Anderson S, Cohen O, Petkov VI, Cronin KA, VanDyke AL, Lowy DR, Sharpless NE, Penberthy LT
JAMA Intern Med. 2021 Feb 24;e210366. doi: 10.1001/jamainternmed.2021.0366. Online ahead of print.

Specialties: COVID-19, Infectious Disease

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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

Authors:
Am J Hum Genet. 2021 Apr 21;S0002-9297(21)00138-5. doi: 10.1016/j.ajhg.2021.04.007.

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.

Biochemical Diagnosis of Acute Hepatic Porphyria: Updated Expert Recommendations for Primary Care Physicians

Authors: Anderson KE, Lobo R, Salazar D, Schloetter M, Spitzer G, White AL, Young RM, Bonkovsky HL, Frank EL, Mora J, Tortorelli S.
Am J Med Sci. 2021 Apr 15;S0002-9629(21)00093-8. doi: 10.1016/j.amjms.2021.03.004. Online ahead of print.

Specialties: Neurology

The complete genome sequence of Listeria monocytogenes strain S2542 and expression of selected genes under high-pressure processing

Authors: Duru IC, Bucur FI, Andreevskaya M, Ylinen A, Crauwels P, Grigore-Gurgu L, Nikparvar B, Rode TM, Laine P, Paulin L, Løvdal T, Riedel CU, Bar N, Borda D, Nicolau AI, Auvinen P.
BMC Res Notes. 2021 Apr 15;14(1):137. doi: 10.1186/s13104-021-05555-2.

Specialties: Genetics, Infectious Disease

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

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Authors: Courage C, Oliver KL, Park EJ, Cameron JM, Grabińska KA, Muona M, Canafoglia L, Gambardella A, Said E, Afawi Z, Baykan B, Brandt C, di Bonaventura C, Chew HB, Criscuolo C, Dibbens LM, Castellotti B, Riguzzi P, Labate A, Filla A, Giallonardo AT, Berecki G, Jackson CB, Joensuu T, Damiano JA, Kivity S, Korczyn A, Palotie A, Striano P, Uccellini D, Giuliano L, Andermann E, Scheffer IE, Michelucci R, Bahlo M, Franceschetti S, Sessa WC, Berkovic SF, Lehesjoki AE.
Am J Hum Genet. 2021 Apr 1;108(4):722-738. doi: 10.1016/j.ajhg.2021.03.013.

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.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

Authors: Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F.
Am J Med Genet A. 2021 Mar 30. doi: 10.1002/ajmg.a.62124. Online ahead of print.

Specialties: Neurology