HLBS-PopOmics - Heart, Lung, Blood, and Sleep Disorders Knowledge Base in Population Genomics -

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HLBS-PopOmics

- Heart, Lung, Blood, and Sleep Disorders Knowledge Base in Population Genomics -

What's New

Last Posted: Apr 30, 2018

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• Living With COPD 
• Doctors cure seven adult patients of sickle cell disease using stem cells  
  The Guardian, Apr 27, 2018
• The 2018 Global FH Summit focuses on implementation science  
  The FH Foundation, Oct 1-2, 2018
• [Genetic heterogeneity and complexity of congenital heart defects].  
  Nagy Dóra et al. Orvosi hetilap 2018 Apr 159(17) 661-670
• 5 reasons your doctor may recommend genetic counseling during pregnancy  
  Geisinger Health, Apr 2018
• A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.  
  Rama Mélanie et al. European journal of human genetics : EJHG 2018 Apr
• A Qualitative Analysis of the Information Needs of Parents of Children with Cystic Fibrosis prior to First Admission.  
  Fixter Vera et al. Journal of pediatric nursing 34e29-e33
• Assessment of the interlaboratory variability and robustness of JAK2V617F mutation assays: A study involving a consortium of 19 Italian laboratories.  
  Perricone Margherita et al. Oncotarget 2017 May 8(20) 32608-32617
• Associations of Fitness, Physical Activity, Strength, and Genetic Risk With Cardiovascular Disease: Longitudinal Analyses in the UK Biobank Study.  
  Tikkanen Emmi et al. Circulation 2018 Apr
• At-Home Genetic Testing Is Blurring Lines Between Patient and Consumer  
  E Glowatz, Newsweek, Apr 24, 2018
• Clinical experience with multigene carrier panels in the reproductive setting.  
  Terhaar Catherine et al. Prenatal diagnosis 2018 Apr
• Decoding your baby's DNA: It can be done. But should it be?  
  S Karlamangla, LA Times, Apr 21, 2018
• Detection of oncogenic mutations in resected bronchial margins by next-generation sequencing indicates early relapse in stage IA lung adenocarcinoma patients.  
  Lv Tangfeng et al. Oncotarget 2017 Jun 8(25) 40643-40653
• Gene Therapy as a Curative Option for β-Thalassemia.  
  Biffi Alessandra et al. The New England journal of medicine 2018 378(16) 1551-1552
• Gene therapy helps patients avoid blood transfusion, study says  
  CNN, Apr 19, 2018