Publications by Medical Specialty - Genetics

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

Identification of 22 novel BTK gene variants in B cell deficiency with hypogammaglobulinemia

Authors: Kraft MT, Pyle R, Dong X, Hagan JB, Varga E, van Hee M, Boyce TG, Pozos TC, Yilmaz-Demirdag Y, Bahna SL, Abraham RS.
Clin Immunol. 2021 Jun 25;108788. doi: 10.1016/j.clim.2021.108788. Online ahead of print.

Specialties: Genetics, Infectious Disease

Variant Reinterpretation in Survivors of Cardiac Arrest With Preserved Ejection Fraction (the Cardiac Arrest Survivors With Preserved Ejection Fraction Registry) by Clinicians and Clinical Commercial Laboratories

Authors: Davies B, Bartels K, Hathaway J, Xu F, Roberts JD, Tadros R, Green MS, Healey JS, Simpson CS, Sanatani S, Steinberg C, Gardner M, Angaran P, Talajic M, Hamilton R, Arbour L, Seifer C, Fournier A, Joza J, Krahn AD, Lehman A, Laksman ZWM.
Circ Genom Precis Med. 2021 Jun;14(3):e003235. doi: 10.1161/CIRCGEN.120.003235. Epub 2021 May 7.

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.

Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates

Authors: MacPherson MJ, Erickson SL, Kopp D, Wen P, Aghanoori MR, Kedia S, Burns KML, Vitobello A, Tran Mau-Them F, Thomas Q, Gold NB, Brucker W, Amlie-Wolf L, Gripp KW, Bodamer O, Faivre L, Muona M, Menzies L, Baptista J, Guegan K, Male A, Wei XC, He G, Long Q, Innes AM, Yang G.
Cell Rep. 2021 Jun 8;35(10):109226. doi: 10.1016/j.celrep.2021.109226.

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.

High-resolution targeted bisulfite sequencing reveals blood cell type-specific DNA methylation patterns in IL13 and ORMDL3

Authors: Söderhäll C, Reinius LE, Salmenperä P, Gentile M, Acevedo N, Konradsen JR, Nordlund B, Hedlin G, Scheynius A, Myllykangas S, Kere J.
Clin Epigenetics. 2021 May 10;13(1):106. doi: 10.1186/s13148-021-01093-7.

Specialties: Genetics

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

Variant Re-interpretation in Survivors of Cardiac Arrest with Preserved Ejection Fraction (CASPER Registry) by Clinicians and Clinical Commercial Laboratories

Authors: Davies B, Bartels K, Hathaway J, Xu F, Roberts JD, Tadros R, Green MS, Healey JS, Simpson CS, Sanatani S, Steinberg C, Gardner M, Angaran P, Talajic M, Hamilton R, Arbour L, Seifer C, Fournier A, Joza J, Krahn AD, Lehman A, Laksman ZWM.
Circ Genom Precis Med. 2021 Jun;14(3):e003235. doi: 10.1161/CIRCGEN.120.003235. Epub 2021 May 7.

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.

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

Authors: Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A; CAUSES Study, Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J; Genomics England Research Consortium, Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT.
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.

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.

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