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Rare Diseases

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Last Posted: Aug 12, 2019

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• Insight into genetic predisposition to chronic lymphocytic leukemia from integrative epigenomics.  
  Speedy Helen E et al. Nature communications 2019 Aug (1) 3615
• What to Tell a Parent Who Worries a Young Child Has Autism.  
  Estes Annette et al. JAMA psychiatry 2019 Aug
• Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA.  
  Grati Francesca Romana et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Aug
• A mini-review and implementation model for using ataluren to treat nonsense mutation Duchenne muscular dystrophy.  
  Landfeldt Erik et al. Acta paediatrica (Oslo, Norway : 1992) 2019 Feb 108(2) 224-230
• A Phase 3 Randomized Trial of Voxelotor in Sickle Cell Disease.  
  Vichinsky Elliott et al. The New England journal of medicine 2019 Aug 381(6) 509-519
• Assessing the barriers to cardiac care in carriers of Duchenne and Becker muscular dystrophy.  
  Eekhoff Lauren et al. Journal of genetic counseling 2019 Aug
• Changes in Bone Mineral Density After Prophylactic Bilateral Salpingo-Oophorectomy in Carriers of a BRCA Mutation.  
  Kotsopoulos Joanne et al. JAMA network open 2019 Aug 2(8) e198420
• European expert consensus statement on therapeutic goals in Fabry disease.  
  Wanner Christoph et al. Molecular genetics and metabolism 2018 124(3) 189-203
• High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR.  
  Czibere Ludwig et al. European journal of human genetics : EJHG 2019 Jul
• Identification of Waardenburg Syndrome and the Management of Hearing Loss and Associated Sequelae: A Review for the Pediatric Nurse Practitioner.  
  Ringer Jonathan et al. Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 2019 Jul
• Inherited Cardiac Arrhythmias and Channelopathies.  
  Kline Jessica et al. The Medical clinics of North America 2019 Sep 103(5) 809-820
• Merkel Cell Carcinoma, Version 1.2018, NCCN Clinical Practice Guidelines in Oncology.  
  Bichakjian Christopher K et al. Journal of the National Comprehensive Cancer Network : JNCCN 2018 Jun 16(6) 742-774
• miR-142-3p as a novel biomarker for predicting poor prognosis in renal cell carcinoma patients after surgery.  
  Peng Xiqi et al. The International journal of biological markers 2019 Aug 1724600819866456
• Outcomes of Endoscopic Surveillance in Individuals With Genetic Predisposition to Hereditary Diffuse Gastric Cancer.  
  Jacobs Michelle F et al. Gastroenterology 2019 157(1) 87-96
• Precision Medicine for Idiopathic Hypersomnia.  
  Arnulf Isabelle et al. Sleep medicine clinics 2019 Sep 14(3) 333-350
• Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations.  
  Kazachkov Mikhail et al. Respiratory medicine 2018 14137-46
• The German National Registry of Primary Immunodeficiencies (2012-2017).  
  El-Helou Sabine M et al. Frontiers in immunology 2019 101272
• Transfer of embryos with positive results following preimplantation genetic testing for monogenic disorders (PGT-M): experience of two high-volume fertility clinics.  
  Besser Andria G et al. Journal of assisted reproduction and genetics 2019 Jul
• Screening for Pancreatic Cancer: US Preventive Services Task Force Reaffirmation Recommendation Statement.  
  et al. JAMA 2019 Aug (5) 438-444
• 18 F-FDG PET/CT Radiomic Analysis with Machine Learning for Identifying Bone Marrow Involvement in the Patients with Suspected Relapsed Acute Leukemia.  
  Li Hebei et al. Theranostics 2019 9(16) 4730-4739