Publications

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

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.

Multifocal Langerhans Cell Histiocytosis: A Unique Presentation of Eosinophilic Granuloma with Intracranial Extension, Massive Lymphadenopathy, and Epstein-Barr Viral Infection in an Adolescent Female

Authors: Foster KW, Robinson SK, Tung-Hahn E, Gibbons G, Cruse CW, Mudaliar K, Tung R, Kim W.
Case Rep Dermatol. 2021 Jan 25;13(1):28-35. doi: 10.1159/000511488.

Specialties: Dermatology, Infectious Disease

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

A Diagnostically Challenging Case of Febrile Ulceronecrotic Mucha-Habermann Disease in an Adult Female Successfully Treated with Methotrexate and Cyclosporine

Authors: Ngo T, Hossain C, Cohen J, McLellan B, Blasiak R, Balagula E.
Case Rep Dermatol. 2021 Jan 21;13(1):12-17. doi: 10.1159/000511537.

Specialties: Dermatology

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

Opinion: Standardizing gene product nomenclature-a call to action

Authors: Fujiyoshi K, Bruford EA, Mroz P, Sims CL, O'Leary TJ, Lo AWI, Chen N, Patel NR, Patel KP, Seliger B, Song M, Monzon FA, Carter AB, Gulley ML, Mockus SM, Phung TL, Feilotter H, Williams HE, Ogino S.
Proc Natl Acad Sci U S A. 2021 Jan 19;118:e2025207118. doi: 10.1073/pnas.2025207118.

Specialties: Genetics

Relationship between hepatitis C virus (HCV) IgG index values and quantitative HCV RNA results in HCV IgG-reactive serum samples

Authors: Prince HE, Marlowe EM, Schwab DS.
Diagn Microbiol Infect Dis. 2021 May;100(1):115311. doi: 10.1016/j.diagmicrobio.2021.115311. Epub 2021 Jan 19.

Specialties: Infectious Disease

New Onset Granulomatosis with Polyangiitis Associated with COVID-19.

Authors: Bressler MY, Pathak N, Cervellione K, Bagheri F, Epstein E, Mir A, Tamez R.
Case Rep Dermatol Med. 2021 Jan 13;2021:8877292. doi: 10.1155/2021/8877292.

Specialties: COVID-19, Dermatology

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

A STAT3 inhibitor ameliorates CNS autoimmunity by restoring Teff:Treg balance

Authors: Aqel SI, Yang X, Kraus EE, Song J, Farinas MF, Zhao EY, Pei W, Lovett-Racke AE, Racke MK, Li C, Yang Y.
JCI Insight. 2021 Feb 22;6(4):142376. doi: 10.1172/jci.insight.142376.

Specialties: Neurology

Workplace Mental Health: Application of a Population Health Approach of Proactive Screening to Identify Risk and Engage in Care

Authors: Fragala MS, Hunter JL, Satish A, Jelovic NA, Carr S, Bailey AM, Stokes M, Hayward JI, Kim PM, Peters ME.
J Occup Environ Med. 2021 Jan 4. doi: 10.1097/JOM.0000000000002116. Online ahead of print.

Specialties: General Health and Wellness, Neurology

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Rash on the Chest of a Woman With Lymphadenopathy: Challenge.

Authors: Mi X, Lee BA.
Am J Dermatopathol. 2021 Jan 1;43(1):e1-e2. doi: 10.1097/DAD.0000000000001558.

Specialties: Dermatology

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