Clinical Education Center

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

Reduced H3K27me3 expression in radiation-associated angiosarcoma of the breast.

Authors: Mentzel T, Kiss K
Virchows Arch. 2017 Oct 5. doi: 10.1007/s00428-017-2242-8. [Epub ahead of print]

Specialties: Genetics, Oncology, Pathology, Pathology, Anatomic, Pathology, Laboratory Medicine, Women's Health/OB/GYN

CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1.

Authors: Hemmat M, Rumple MJ, Mahon LW, Morrow M, Zach T, Anguiano A, Elnaggar MM, Wang BT, Boyar FZ
Mol Cytogenet 2017;10:33

Specialties: Genetics, Neurology, Pediatrics

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.

Specialties: Dermatology, Genetics, Pathology, Laboratory Medicine

Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach.

Authors: Samimi G, Bernardini MQ, Brody LC, Caga-Anan CF, Campbell IG, Chenevix-Trench G, Couch FJ, Dean M, de Hullu JA, Domchek SM, Drapkin R, Spencer Feigelson H, Friedlander M, Gaudet MM, Harmsen MG, Hurley K, James PA, Kwon JS, Lacbawan F, Lheureux S, Mai PL, Mechanic LE, Minasian LM, Myers ER, Robson ME, Ramus SJ, Rezende LF, Shaw PA, Slavin TP, Swisher EM, Takenaka M, Bowtell DD, Sherman ME.
J Clin Oncol. 2017;35:2329-2337.

Specialties: Clinical and Lab healthcare professionals, Genetics, Nurse practitioners, Oncology, Pathology, PCPs, Women's Health/OB/GYN