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Lung Diseases

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Last Posted: Dec 20, 2018

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• Hereditary breast cancer; Genetic penetrance and current status with BRCA.  
  Mahdavi Morteza et al. Journal of cellular physiology 2018 Dec
• Parental awareness of newborn bloodspot screening in Ireland.  
  Fitzpatrick Patricia et al. Irish journal of medical science 2018 Dec
• Recombinant growth hormone therapy for cystic fibrosis in children and young adults.  
  Thaker Vidhu et al. The Cochrane database of systematic reviews 2018 Dec 12CD008901
• The increasing challenge of genetic counseling for cystic fibrosis.  
  Foil Kimberly E et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 Dec
• Cystic Fibrosis: Advancing Along the Continuum.  
  Bono-Neri Francine et al. Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 2018 Oct
• Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma.  
  Muth A et al. Journal of internal medicine 2018 Dec
• 2019 Digital Toolkit: NATIONAL BIRTH DEFECTS PREVENTION MONTH  
• Health professionals' involvement and information provision in genetic counseling following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong.  
  So Po Lam et al. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2018 Dec
• Metabolic Signatures of Cystic Fibrosis Identified in Dried Blood Spots For Newborn Screening Without Carrier Identification.  
  DiBattista Alicia et al. Journal of proteome research 2018 Dec
• Next-generation sequencing with a 54-gene panel identified unique mutational profile and prognostic markers in Chinese patients with myelofibrosis.  
  Gill Harinder et al. Annals of hematology 2018 Dec
• Polygenic risk score identifies associations between sleep duration and diseases determined from an electronic medical record biobank.  
  Dashti Hassan S et al. Sleep 2018 Dec
• Prenatal Diagnosis of Cystic Fibrosis.  
  Fedick Anastasia M et al. Methods in molecular biology (Clifton, N.J.) 2019 1885221-231
• Can You Inherit Pulmonary Hypertension? Here’s What You Should Know  
  Cleveland Clinic, December 10, 2018
• A Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults  
  M. Murray and the Genomics and Population Health Action Collaborative, National Academies of Medicine, December 3, 2018
• Cardiac MRI biomarkers for Duchenne muscular dystrophy.  
  Magrath Patrick et al. Biomarkers in medicine 2018 Nov