Publications by Medical Specialty - Genetics
These publications were authored or co-authored by Quest Diagnostics staff.
- Clinical and Lab healthcare professionals
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The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
Authors: Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, Bardakjian TM, Striano P, Poduri A, Siegert RK, Grant AR, Helbig KL, Mefford HC.
Hum Mutat. 2018 Nov;39(11):1476-1484.
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.
Authors: Kazi ZB, Desai AK, Troxler RB, Kronn D, Packman S, Sabbadini M, Rizzo WB, Scherer K, Abdul-Rahman O, Tanpaiboon P, Nampoothiri S, Gupta N, Feigenbaum A, Niyazov DM, Sherry L, Segel R, McVie-Wylie A, Sung C, Joseph AM, Richards S, Kishnani PS.
Genet Med. 2018 Sep 14. doi: 10.1038/s41436-018-0270-7. [Epub ahead of print]
Authors: Hoskovec JM, Bennett RL, Carey ME, DaVanzo JE, Dougherty M, Hahn SE, LeRoy BS, O'Neal S, Richardson JG, Wicklund CA.
J Genet Couns. 2018 Feb;27(1):16-20.
Authors: Chen N, Franklin CR, and Quan F
AMP CAP Today 2018 http://www.captodayonline.com/detection-rare-deletion-mutation-alpha-globin-gene-locus-establishes-diagnosis-hb-h-disease/ 2018;Feb. Accessed February 2018.
Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes?
Authors: Majidi S, Fouts A, Pyle L, Chambers C, Armstrong T, Wang Z, Batish SD, Klingensmith G, Steck AK
Diabetes Technol Ther. 2018;20(2):106-112. doi: 10.1089/dia.2017.0317.
Cost Effectiveness of Karyotyping, Chromosomal Microarray Analysis, and Targeted Next-Generation Sequencing of Patients with Unexplained Global Developmental Delay or Intellectual Disability
Authors: Li Y, Anderson LA, Ginns EI, Devlin JJ
Mol Diagn Ther. 2018;22(1):129-138.
Authors: Hoskovec JM, Bennett RL, Carey ME, DaVanzo JE, Dougherty M, Hahn SE, LeRoy BS, O'Neal S, Richardson JG, Wicklund CA
J Genet Couns. 2017 Oct doi: 10.1007/s10897-017-0158-8. [Epub ahead of print]
Authors: Mentzel T, Kiss K
Virchows Arch. 2017 Oct 5. doi: 10.1007/s00428-017-2242-8. [Epub ahead of print]
Authors: Hemmat M, Rumple MJ, Mahon LW, Morrow M, Zach T, Anguiano A, Elnaggar MM, Wang BT, Boyar FZ
Mol Cytogenet 2017;10:33
CD13 is a marker for onychofibroblasts within nail matrix onychodermis: Comparison of its expression patterns in the nail unit and in the hair follicle.
Authors: Park JH, Lee DY, Jang KT, Ha SY, Kwon GY, Lee KH, Shim JS, Kwon EJ
J Cutan Pathol. 2017;44(11):909-914.