Clinical Education Center

A Young Woman With Recurrent Gestational Hypercalcemia and Acute Pancreatitis Caused by CYP24A1 Deficiency.

Authors: Woods GN, Saitman A, Gao H, Clarke NJ, Fitzgerald RL, Chi NW
J Bone Miner Res. 2016;31:1841-1844.

Specialties: Endocrinology, Diabetes & Metabolism, Genetics, Women's Health/OB/GYN

2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling.

Authors: Doyle DL, Awwad RI, Austin JC, Baty BJ, Bergner AL, Brewster SJ, Erby LA, Franklin CR, Greb AE, Grubs RE, Hooker GW, Noblin SJ, Ormond KE, Palmer CG, Petty EM, Singletary CN, Thomas MJ, Toriello H, Walton CS, Uhlmann WR
J Genet Couns. 2016;25:868-79

Specialties: Genetics

Best Practices for Genomic Assay Testing in Early-Stage Breast Cancer: Clinical and Medicolegal Perspectives.

Authors: Seidman AD, Amjadi DK, De La Melena T, Wheeler D.
Popul Health Manag. 2016 Sep 29. [Epub ahead of print] DOI: 10.1089/pop.2016.0133

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

BRCA Share: A Collection of Clinical BRCA Gene Variants.

Authors: Beroud C, Letovsky SI, Braastad CD, Caputo SM, Beaudoux O, Bignon YJ, Bressac-De Paillerets B, Bronner M, Buell CM, Collod-Beroud G, Coulet F, Derive N, Divincenzo C, Elzinga CD, Garrec C, Houdayer C, Karbassi I, Lizard S, Love A, Muller D, Nagan N, Nery CR, Rai G, Revillion F, Salgado D, Sévenet N, Sinilnikova O, Sobol H, Stoppa-Lyonnet D, Toulas C, Trautman E, Vaur D, Vilquin P, Weymouth KS, Willis A
Hum Mutat. 2016;37:1318-1328.

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

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Chromosomal microarray analysis as the first-tier test for the identification of pathogenic copy number variants in chromosome 9 pericentric regions and its challenge.

Authors: Wang JC, Boyar FZ
Mol Cytogenet. 2016;9:64.

Specialties: Genetics, Neurology, Pathology, Laboratory Medicine, Pediatrics

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. 2016-06-30 [Epub ahead of print]

Specialties: Genetics, Health Information Technology

KIF6 719Arg Genetic Variant and Risk for Thoracic Aortic Dissection

Authors: Iakoubova O, Tong C, Catanese J, Rowland C, Luke M, Tranquilli M, Elefteriades JA
Aorta (Stamford). 2016;4:83-90

Specialties: Cardiology, Genetics

Interstitial Chromosome 3p14.1 Deletion due to a Maternal Insertion: Phenotype and Association with Balanced Parental Rearrangement.

Authors: Hajek C, Wang J, Mahon L, Martinez A, Saitta SC.
Mol Syndromol. 2016;7:43-48

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

Frequency and Complexity of De Novo Structural Mutation in Autism.

Authors: Brandler WM, Antaki D, Gujral M, Noor A, Rosanio G, Chapman TR, Barrera DJ, Lin GN, Malhotra D, Watts AC, Wong LC, Estabillo JA, Gadomski TE, Hong O, Fajardo KV, Bhandari A, Owen R, Baughn M, Yuan J, Solomon T, Moyzis AG, Maile MS, Sanders SJ, Reiner GE, Vaux KK, Strom CM, Zhang K, Muotri AR, Akshoomoff N, Leal SM, Pierce K, Courchesne E, Iakoucheva LM, Corsello C, Sebat J
Am J Hum Genet. 2016;98:667-679

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

A novel method for simultaneous quantification of alpha-aminoadipic semialdehyde/piperideine-6-carboxylate and pipecolic acid in plasma and urine.

Authors: Yuzyuk T, Liu A, Thomas A, Wilson JE, De Biase I, Pasquali M.
J Chromatogr B Analyt Technol Biomed Life Sci. 2016;1017-1018:145-52

Specialties: Genetics, Pathology, Laboratory Medicine