Last Posted: Jun 11, 2017
- Why we dont know what causes most birth defects
The Conversation, June 2017
- CDC analysis of data from US territories finds serious birth defects in about 1 in 12 fetuses or infants of pregnant women with Zika infection in the first trimester
CDC, June 7, 2017
- Advancing Treatment and Care for Fragile X Syndrome
- Barriers to Genetic Testing for Pediatric Medicaid Beneficiaries With Epilepsy.
Kutscher Eric J et al. Pediatric neurology 2017 Apr
- The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.
Khan Muzammil Ahmad et al. Annals of human genetics 2016 Nov 80(6) 342-368
- Why study rare genetic conditions?
N Rahman, TGMI blog post, June 2, 2017
- "It was a lot Tougher than I Thought It would be". A Qualitative Study on the Changing Nature of Being a Hemophilia Carrier.
von der Lippe Charlotte et al. Journal of genetic counseling 2017 May
- Cell-free DNA vs sequential screening for the detection of fetal chromosomal abnormalities.
Norton Mary E et al. American journal of obstetrics and gynecology 2016 Jun 214(6) 727.e1-6
- Clinical utility gene card for: Tangier disease.
Hooper Amanda J et al. European journal of human genetics : EJHG 2017 May
- Do the data really support ordering fragile X testing as a first-tier test without clinical features?
Weinstein Veronique et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 May
- Evolving locally appropriate models of care for indian sickle cell disease.
Serjeant Graham R et al. The Indian journal of medical research 2016 Apr 143(4) 405-13
- Factors predicting persistence of early wheezing through childhood and adolescence: a systematic review of the literature.
Rodríguez-Martínez Carlos E et al. Journal of asthma and allergy 2017 1083-98
- Parental Perspectives on Pharmacological Clinical Trials: a Qualitative Study in Down Syndrome and Fragile X Syndrome.
Reines Victoria et al. Journal of genetic counseling 2017 May
- Psychological impact of a genetic diagnosis on hearing impairment - an exploratory study.
Oonk A M M et al. Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery 2017 May
- Summary of Pediatrics Supplement
- Sweat test and cystic fibrosis: overview of test performance at public and private centers in the state of São Paulo, Brazil.
Servidoni Maria Fátima et al. Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia 43(2) 121-128