Clinical Education Center

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.

Specialties: Genetics, Neurology

Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts

Authors: Rabinowitz NZ, Yokoyama JS, Bright AR, Lee SE, Fong JC, Karydas A, Bonham LW, Karbassi ID, Pribadi M, Meservey MA, Gallen M, Ramos EM, Liaquat K, Hoffman C, Krasner M, Dodge W, Rosen HJ, Boxer AL, Geschwind MD, Rankin KP, Coppola G, Miller BL, Higgins JJ
Adv Genomics Genet. 2018 Oct 25 vol 8:23–33

Specialties: Genetics, Geriatrics/Age Management, Neurology

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Clinical Molecular Genetic Laboratory Practice, Where We Stand in 2018

Authors: Meng H and Xu W
J Mol Genet Med. 2018 Oct 8;12(4)

Specialties: Clinical and Lab healthcare professionals, Genetics

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]

Specialties: Cardiology, Genetics

A multigene test could cost-effectively help extend life expectancy for women at risk of hereditary breast cancer-Reply to letter to the editor by Petelin et al.

Authors: Li Y, Devlin JJ.
Value Health. 2018 Jul;21(7):893-894. Epub 2018 Apr 5.

Specialties: Genetics, Oncology, Women's Health/OB/GYN

Projecting the Supply and Demand for Certified Genetic Counselors: a Workforce Study.

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.

Specialties: Genetics

A Rare Deletion Mutation in the Alpha-globin Gene Locus for Diagnosis of Hemoglobin H Disease

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.

Specialties: Genetics

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 Feb;20(2):106-112.

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Genetics

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

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.

Specialties: Genetics, Neurology

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Projecting the Supply and Demand for Certified Genetic Counselors: a Workforce Study.

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]

Specialties: Genetics