Publications by Medical Specialty - Neurology

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

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

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.

Pharmacological Treatment of Severe Breathing Abnormalities in a Case of HNRNPU Epileptic Encephalopathy

Authors: Spagnoli C, Rizzi S, Salerno GG, Frattini D, Koskenvuo J, Fusco C.
Mol Syndromol. 2021 Apr;12(2):101-105. doi: 10.1159/000512566. Epub 2021 Jan 11.

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.

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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Diphthamide-deficiency Syndrome: A Novel Human Developmental Disorder and Ribosomopathy

Authors: Hawer H, Mendelsohn BA, Mayer K, Kung A, Malhotra A, Tuupanen S, Schleit J, Brinkmann U, Schaffrath R.
Eur J Hum Genet. 2020 Nov;28(11):1497-1508. doi: 10.1038/s41431-020-0668-y. Epub 2020 Jun 23.

Specialties: Neurology

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

Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project

Authors: Prior TW, Bayrak-Toydemir P, Lynnes TC, Mao R, Metcalf JD, Muralidharan K, Iwata-Otsubo A, Pham HT, Pratt VM, Qureshi S, Requesens D, Shen J, Vetrini F, Kalman L.
J Mol Diagn. 2021 Jan;23(1):103-110. doi: 10.1016/j.jmoldx.2020.10.011. Epub 2020 Nov 14.

Specialties: Neurology

Progressive myoclonus epilepsy caused by a homozygous splicing variant of SLC7A6OS

Authors: Mazzola L, Oliver KL, Labalme A, Baykan B, Muona M, Joensuu TH, Courage C, Chatron N, Borsani G, Alix E, Ramond F, Touraine R, Bahlo M, Bebek N, Berkovic SF, Lehesjoki AE, Lesca G.
Ann Neurol. 2020 Oct 21. doi: 10.1002/ana.25941. Online ahead of print.

Specialties: Neurology

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

X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant

Authors: Kraatari M, Tuominen H, Tuupanen S, Haapaniemi T, Moilanen J, Rahikkala E.
Eur J Med Genet. 2020 Nov;63(11):104040. doi: 10.1016/j.ejmg.2020.104040. Epub 2020 Aug 14.

Specialties: Neurology

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

Effects of 4% Ethanol Sclerosing Injection on Morton's Neuroma: A histological study

Authors: Patrick A DeHeer, Rickinder Bains, Faye-Rose Grebenyuk, Shrunjay Patel Tea Nguyen
J Am Podiatr Med Assoc. 2020 Jul 15. doi: 10.7547/17-094. Online ahead of print.

Specialties: Neurology

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