Genomics|Update|Current: Birth Defects & Child Health

Genomics|Update|Current

Birth Defects & Child Health

Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study

Schofl C, et al. J Clin Endocrinol Metab 2014 Aug:jc20142094

Genetic education and sickle cell disease: Feasibility and efficacy of a program tailored to adolescents

Porter JS, et al. J Pediatr Hematol Oncol 2014 Aug

Molecular diagnostic testing by eyeGENE(R).Analysis of patients with hereditary retinal dystrophy phenotype involving central vision loss

Alapati AN, et al. Invest Ophthalmol Vis Sci 2014 Jul

Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys

Lyon E, et al. Genet Med 2014 Jul

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.

Campbell IM, et al. Am J Hum Genet. 2014 Jul 29. pii: S0002-9297(14)00312-7.

Having more than one set of DNA carries legacy of risk, The New York Times, Jul 31

Pharmacogenetics of drug-induced birth defects: the role of polymorphisms of placental transporter proteins.

Aizati NA Daud et al. Pharmacogenomics May 2014

NIH News: A specialized bone marrow transplant successfully reversed severe sickle cell disease in adults, August, 2014