Publications by Medical Specialty - Neurology
These publications were authored or co-authored by Quest Diagnostics staff.
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A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype
Authors: Soliani L, Spagnoli C, Salerno GG, Mehine M, Rizzi S, Frattini D, Koskenvuo J, Fusco C.
J Neuroophthalmol. 2021 Mar 1;41(1):e85-e88. doi: 10.1097/WNO.0000000000000921.
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.
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study
Authors: Maron JL, Kingsmore SF, Wigby K, Chowdhury S, Dimmock D, Poindexter B, Suhrie K, Vockley J, Diacovo T, Gelb BD, Stroustrup A, Powell CM, Trembath A, Gallen M, Mullen TE, Tanpaiboon P, Reed D, Kurfiss A, Davis JM.
JAMA Pediatr. 2021 Feb 15;e205906. doi: 10.1001/jamapediatrics.2020.5906. Online ahead of print.
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.
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.
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
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.
