January is Birth Defects Prevention Month

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2019 Digital Toolkit: NATIONAL BIRTH DEFECTS PREVENTION MONTH
NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results. Sikkema-Raddatz Birgit et al. Scientific reports 2016 638359 Similar articles in PubMed
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers. Gainotti Sabina et al. European journal of human genetics : EJHG 2018 Feb Similar articles in PubMed
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer. Sernadela Pedro et al. BioMed research international 2017 20178327980 Similar articles in PubMed
Evidence-based practices on reducing transfusion complications in sickle cell disease Provider Training Video Series, Georgia Health Policy Center, 2017
eRAM: encyclopedia of rare disease annotations for precision medicine. Jia Jinmeng et al. Nucleic acids research 2017 Nov Similar articles in PubMed
Sickle Cell Disease: What You Should Know  CDC podcast, 2017
Hemophilia Treatment Center (HTC) Directory
Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders. G C C L Cardenas Raony et al. PLoS computational biology 2017 Jun 13(6) e1005520 Similar articles in PubMed
Molecular diagnostics for hereditary hearing loss in children. Sommen Manou et al. Expert review of molecular diagnostics 2017 Jun Similar articles in PubMed
Massive-scale genomic data sharing to improve rare disease diagnosis D MacArthur VIDEO presentation, Scripps Institute, Future of Genomic Medicine 2017
ApreciseKUre: an approach of Precision Medicine in a Rare Disease. Spiga Ottavia et al. BMC medical informatics and decision making 2017 Apr 17(1) 42 Similar articles in PubMed
DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD. Zhou Jiapeng et al. BMC bioinformatics 2017 Feb 18(1) 87 Similar articles in PubMed
Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. Pavan Sonia et al. PloS one 2017 12(1) e0170365 Similar articles in PubMed
A comprehensive global genotype–phenotype database for rare diseases R. Trujillano et al, Molecular Genetics and Genomic Medicine, November 2016
Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool. Jongmans Marjolijn C J et al. European journal of medical genetics 2016 Jan Similar articles in PubMed
DS-Connect: A Promising Tool to Improve Lives and Engage Down Syndrome Communities Worldwide. Peprah Emmanuel K et al. Glob Heart 2015 Aug 11. Similar articles in PubMed
eHealth Services for the European Reference Network on Rare Anaemias (eENERCA). Antoniou Zinonas et al. Stud Health Technol Inform 2015 213153-6 Similar articles in PubMed
Findings from the National Birth Defects Prevention Study: Interpretation and translation for the clinician. Alwan Sura et al. Birth Defects Res. Part A Clin. Mol. Teratol. 2015 Jun 25. Similar articles in PubMed
Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines. Similar articles in PubMed
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome. Similar articles in PubMed
A Toolkit to assess health needs for congenital disorders in low- and middle-income countries: an instrument for public health action. Similar articles in PubMed
The use of a Toolkit for health needs assessment on neural tube defects in Argentina. Similar articles in PubMed
wANNOVAR: annotating genetic variants for personal genomes via the web. Similar articles in PubMed