Genomics & Health Impact Scan Database|Search|PHGKB|Birth Defects/Child Health

Genomics & Health Impact Scan Database|Search|PHGKB

Publication	Product Type	Category
Gene Therapy in a Patient with Sickle Cell Disease.   Ribeil Jean-Antoine et al. The New England journal of medicine 2017 Mar 376(9) 848-855	Original Studies [A]	Birth Defects/Child Health
Epigenetics studies of fetal alcohol spectrum disorder: where are we now?   Lussier Alexandre A et al. Epigenomics 2017 Mar 9(3) 291-311	Reviews/Commentaries [E]	Birth Defects/Child Health
Sickle Cell Disease: A Brief Update.   Azar Sharl et al. The Medical clinics of North America 2017 Mar 101(2) 375-393	Reviews/Commentaries [E]	Birth Defects/Child Health
10 Years of Rare Disease Day.   Yáñez-Muñoz R J et al. Gene therapy 2017 Feb 24(2) 67	Reviews/Commentaries [E]	Birth Defects/Child Health
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results   D Baldridge et al, Genetics in Medicine, March 2, 2017	Original Studies [A]	Birth Defects/Child Health
Optimism on Rare Disease Day: With Research, Possibilities are Limitless   SP Denker, PLOS Blogs, February 2017	Reviews/Commentaries [E]	Birth Defects/Child Health
Does maternal mental well-being in pregnancy impact the early human epigenome?  Ryan Joanne et al. Epigenomics 2017 Mar 9(3) 313-332	Reviews/Commentaries [E]	Birth Defects/Child Health
Advice from the Rare Disease Community   Genome Magazine, February 28, 2017	Reviews/Commentaries [E]	Birth Defects/Child Health
Ethnicity impacts the cystic fibrosis diagnosis: A note of caution.   Bosch Barbara et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2017 Feb	Original Studies [A]	Birth Defects/Child Health
"Set in Stone" or "Ray of Hope": Parents' Beliefs About Cause and Prognosis After Genomic Testing of Children Diagnosed with ASD.   Reiff Marian et al. Journal of autism and developmental disorders 2017 Feb	Original Studies [A]	Birth Defects/Child Health
Appropriate Use of Genetic Testing in Congenital Heart Disease Patients.   Ito Seiji et al. Current cardiology reports 2017 Mar 19(3) 24	Reviews/Commentaries [E]	Birth Defects/Child Health
Modeling strategy to identify patients with primary immunodeficiency utilizing risk management and outcome measurement.   Modell Vicki et al. Immunologic research 2017 Feb	Original Studies [A]	Birth Defects/Child Health
A systematic review of the literature for severity predictors in children with sickle cell anemia.   Meier Emily Riehm et al. Blood cells, molecules & diseases 2017 Feb	Research Synthesis / Modeling / Meta Analysis/ Systematic reviews [B]	Birth Defects/Child Health
Rare Disease Day 2017: Talia’s Story   R Lewis, PLOS Blogs, February 2017	Reviews/Commentaries [E]	Birth Defects/Child Health