Publications

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

Diagnostic performance of artificial intelligence for histologic melanoma recognition compared to 18 international expert pathologists

Authors: Brinker TJ, Schmitt M, Krieghoff-Henning EI, Barnhill R, Beltraminelli H, Braun SA, Carr R, Fernandez-Figueras MT, Ferrara G, Fraitag S, Gianotti R, Llamas-Velasco M, Müller CSL, Perasole A, Requena L, Sangueza OP, Santonja C, Starz H, Vale E, Weyers W, Hekler A, Kather JN, Fröhling S, Krahl D, Holland-Letz T, Utikal JS, Saggini A, Kutzner H.
J Am Acad Dermatol. 2021 Feb 10;S0190-9622(21)00331-5. doi: 10.1016/j.jaad.2021.02.009.

Specialties: Dermatology, Oncology

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

Evolution of Specimen Self-Collection in the COVID-19 Era: Implications for Population Health Management of Infectious Disease

Authors: Cockerill FR, Wohlgemuth JG, Radcliff J, Sabol CE, Kapoor H, Dlott JS, Marlowe EM, Clarke NJ.
Popul Health Manag. 2021 Feb;24(S1):S26-S34. doi: 10.1089/pop.2020.0296.

Specialties: COVID-19, Infectious Disease

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy

Authors: Koskenvuo JW, Saarinen I, Ahonen S, Tommiska J, Weckström S, Seppälä EH, Tuupanen S, Kangas-Kontio T, Schleit J, Heliö K, Hathaway J, Gummesson A, Dahlberg P, Ojala TH, Vepsäläinen V, Kytölä V, Muona M, Sistonen J, Salmenperä P, Gentile M, Paananen J, Myllykangas S, Alastalo TP, Heliö T.
PLoS One. 2021 Feb 3;16(2):e0245681. doi: 10.1371/journal.pone.0245681. eCollection 2021.

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.

Asymptomatic pink nodules on a 28-year-old patient.

Authors: Lin A, Schwartzberg L, Friedler S, Cohen J.
JAAD Case Rep. 2020 Dec 10;8:47-49. doi: 10.1016/j.jdcr.2020.11.030. eCollection 2021 Feb.

Specialties: Dermatology

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

Prenatal Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes

Authors: Lawrence AK, Whitehead MT, Kruszka P, Sanapo L, Yano S, Tanpaiboon P, Muenke M, Fraser JL, du Plessis AJ.
Prenat Diagn. 2021 Feb 1. doi: 10.1002/pd.5909. Online ahead of print.

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

Performance of unobserved self-collected nasal swabs for detection of SARS-CoV-2 by RT-PCR utilizing a remote specimen collection strategy.

Authors: Kagan RM, Rogers AA, Borillo GA, Clarke NJ, Marlowe EM
Open Forum Infect Dis. 2021 Jan 28. Online ahead of print.

Specialties: COVID-19, Infectious Disease

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14-3-3 η Protein as a Potential Biomarker in Juvenile Idiopathic Arthritis

Authors: Dalrymple A, Tuttle P, Feller L, Zhukov O, Lagier R, Popov J, Naides S, Moore T.
Pediatr Rep. 2021 Jan 25;13:65-71. doi: 10.3390/pediatric13010008.

Specialties: Infectious Disease

Model for Mitigation of Workplace Transmission of COVID-19 Through Population-Based Testing and Surveillance

Authors: Plantes PJ, Fragala MS, Clarke C, Goldberg ZN, Radcliff J, Goldberg SE.
Popul Health Manag. 2021 Jan 25. doi: 10.1089/pop.2020.0322. Online ahead of print.

Specialties: COVID-19, Infectious Disease

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CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

Authors: Zarate YA, Uehara T, Abe K, Oginuma M, Harako S, Ishitani S, Lehesjoki AE, Bierhals T, Kloth K, Ehmke N, Horn D, Holtgrewe M, Anderson K, Viskochil D, Edgar-Zarate CL, Sacoto MJG, Schnur RE, Morrow MM, Sanchez-Valle A, Pappas J, Rabin R, Muona M, Anttonen AK, Platzer K, Luppe J, Gburek-Augustat J, Kaname T, Okamoto N, Mizuno S, Kaido Y, Ohkuma Y, Hirose Y, Ishitani T, Kosaki K.
HGenet Med. 2021 Jan 25. doi: 10.1038/s41436-020-01091-9. Online ahead of print.

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.

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

Authors: Zarate YA, Uehara T, Abe K, Oginuma M, Harako S, Ishitani S, Lehesjoki AE, Bierhals T, Kloth K, Ehmke N, Horn D, Holtgrewe M, Anderson K, Viskochil D, Edgar-Zarate CL, Sacoto MJG, Schnur RE, Morrow MM, Sanchez-Valle A, Pappas J, Rabin R, Muona M, Anttonen AK, Platzer K, Luppe J, Gburek-Augustat J, Kaname T, Okamoto N, Mizuno S, Kaido Y, Ohkuma Y, Hirose Y, Ishitani T, Kosaki K.
Genet Med. 2021 Jan 25. doi: 10.1038/s41436-020-01091-9. Online ahead of print.

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.