Clinical Education Center

A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies.

Authors: Reittinger AM1, Helm BM2, Boles DJ, Gadi IK, Schrier Vergano SA
Am J Med Genet A. 2017 Jun 27. doi: 10.1002/ajmg.a.38344. [Epub ahead of print]

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

Erythrocytes from hereditary xerocytosis patients heterozygous for KCNN4 V282M exhibit increased spontaneous Gardos channel-like activity inhibited by senicapoc

Authors: Rivera A, Vandorpe DH, Shmukler BE, Gallagher DR, Fikry CC, Kuypers FA, Brugnara C, Snyder LM, Alper SL.
Am J Hematol. 2017 Jun;92(6):E108-E110. doi: 10.1002/ajh.24716

Specialties: Genetics, Hematology/Hemostasis/Thrombosis

Histological, immunohistological and molecular characteristics of intraductal precursor of carcinoma ex pleomorphic adenoma support a multistep carcinogenic process.

Authors: Ihrler S, Guntinas-Lichius O, Agaimy A, Wolf A, Mollenhauer M.
Virchows Arch. 2017;470:601-609

Specialties: Genetics, Oncology, Pathology

R634W KIT Mutation in an Adult With Systemic Mastocytosis.

Authors: Astle JM, Rose MG, Racke FK, Tormey CA, Siddon AJ.
Lab Med. 2017 doi: 10.1093/labmed/lmx026. [Epub ahead of print]

Specialties: Genetics, Hematology/Hemostasis/Thrombosis, Oncology

A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.

Authors: Li Y, Arellano AR, Bare LA, Bender RA, Strom CM, Devlin JJ
Value Health. 2017;20:547-555.

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

Patients with McCune-Albright syndrome have a broad spectrum of abnormalities in the gastrointestinal tract and pancreas.

Authors: Wood LD, Noë M, Hackeng W, Brosens LA, Bhaijee F, Debeljak M, Yu J, Suenaga M, Singhi AD, Zaheer A, Boyce A, Robinson C, Eshleman JR, Goggins MG, Hruban RH, Collins MT, Lennon AM, Montgomery EA.
Virchows Arch. 2017;470:391-400

Specialties: Gastroenterology, Genetics, Oncology, Pathology

Metabolic Mediators of the Effects of Family History and Genetic Risk Score on Coronary Heart Disease—Findings from the Malmö Diet and Cancer Study

Authors: Fritz J, Shiffman D, Melander, Tada H, Ulmer H
J Am Heart Assoc. 2017;6:e005254

Specialties: Cardiology, Genetics

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Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS).

Authors: Strom CM, Anderson B, Tsao D1, Zhang K, Liu Y, Livingston K, Elzinga C2, Evans M, Nguyen Q, Wolfson D, Rowland C, Kolacki P, Maxwell M, Wang JC, Rabin D, Catanese J, Owen R, Braastad C, Sun W.
PLoS One. 2017;12:e0167130

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

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Armc5 deletion causes developmental defects and compromises T-cell immune responses

Authors: Hu Y, Lao L, Mao J, Jin W, Luo H, Charpentier T, Qi S, Peng J, Hu B, Marcinkiewicz MM, Lamarre A, Wu J.
Nat Commun. 2017 Feb 7;8:13834

Specialties: Genetics

Electronic health record interventions at the point of care improve documentation of care processes and decrease orders for genetic tests commonly ordered by nongeneticists.

Authors: Scheuner MT, Peredo J, Tangney K, Schoeff D, Sale T, Lubick-Goldzweig C, Hamilton A, Hilborne L, Lee M, Mittman B, Yano EM, Lubin IM.
Genet Med. 2017;19:112-120.

Specialties: General Health and Wellness, Genetics, Health Information Technology