Genomics|Update|Current ► Genomic Tests & Practice

Genomics|Update|Current

Genomic Tests & Practice

A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands
Weinreich SS, et al. Eur J Hum Genet. 2014 Apr 16.

Criteria for diagnosis of familial hypercholesterolemia: A comprehensive analysis of the different guidelines, appraising their suitability in the Omani Arab population 
Al-Rasadi K, et al. Oman Med J 2014 Mar;29(2):85-91

High-resolution melt as a screening method in autosomal dominant polycystic kidney disease (ADPKD).
Virzì GM, et al. J Clin Lab Anal. 2014 Mar 22.

High-risk HPV nucleic acid detection kit–the careHPV test –a new detection method for screening
Ying H,et al. Scientific Reports 4, Article number:4704 2014 Apr 16

Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.
Brett M, et al. PLoS One. 2014 Apr 1;9(4):e93409

Misinterpretation of TPMT by a DTC genetic testing company 
Brownstein CA, et al. Clin Pharmacol Ther 2014 Mar

Predictive testing for inherited prion disease: report of 22 years experience 
Owen J, et al. Eur J Hum Genet 2014 Apr

Predictors of genetic testing decisions: A systematic review and critique of the  literature 
Sweeny K, et al. J Genet Couns 2014 Apr

Primary hyperparathyroidism in young people. When should we perform genetic testing for multiple endocrine neoplasia 1 (MEN-1)? 
T L, et al. J Clin Endocrinol Metab 2014 Apr:jc20134491

Ten years of the national genetic diabetes nurse network: a model for the translation of genetic information into clinical care 
Shepherd M, et al. Clin Med 2014 Mar;14(2):117-21

The impact of multiplex genetic testing on disease risk perceptions 
Shiloh S, et al. Clin Genet 2014 Apr

What is new in familial hypercholesterolemia?
Santos, Raul D.; Maranhao, Raul C. Current Opinion in Lipidology, April 2, 2014