What's New

Last Posted: Apr 02, 2020

• Genetic testing in male infertility - reassessing screening thresholds.
  Liu James L et al. Current opinion in urology 2020 May 30(3) 317-323
• Comparison of US Federal and Foundation Funding of Research for Sickle Cell Disease and Cystic Fibrosis and Factors Associated With Research Productivity
  F Farook et al, JAMA Network Open, March 27, 2020
• Cystic Fibrosis: A Simple and Customized Strategy for Genetic Screening Able to Detect Over 90% of Identified Mutated Alleles in Brazilian Newborns.
  Rispoli Thaiane et al. Molecular diagnosis & therapy 2020 Mar
• Newborn Screening for Cystic Fibrosis in Mersin Province: Yearly Assessment of the National Program.
  Özdemir Ali et al. Turkish thoracic journal 2020 Mar 21(2) 100-104
• Current and future diagnosis of cystic fibrosis: Performance and limitations.
  Bienvenu T et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2020 Feb 27 Suppl 1eS19-eS24
• Genetic counseling for cystic fibrosis: A basic model with new challenges.
  Bieth E et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2020 Feb 27 Suppl 1eS30-eS34
• Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders.
  Pagin A et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2020 Feb 27 Suppl 1eS25-eS29
• Cost of precision medicine at a referral center for cystic fibrosis.
  Marson Fernando Augusto Lima et al. Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia 2020 Mar 46(2) e20190308
• Minimal change in structural, functional and inflammatory markers of lung disease in newborn screened infants with cystic fibrosis at one year.
  Davies Gwyneth et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2020 Feb
• [Italian Cystic Fibrosis Registry (ICFR). Report 2015-2016].
  Giordani Barbara et al. Epidemiologia e prevenzione 43(4S1) 1-36
• Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.
  Wilk Melissa A et al. Cold Spring Harbor molecular case studies 2020 Feb 6(1)
• Opportunities for machine learning to transform care for people with cystic fibrosis.
  Abroshan Mahed et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2020 Jan 19(1) 6-8
• Cystic fibrosis heterozygosity: Carrier state or haploinsufficiency?
  Fisman David et al. Proceedings of the National Academy of Sciences of the United States of America 2020 Jan
• Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.
  Hernandez-Nieto Carlos et al. Prenatal diagnosis 2020 Jan
• Two years of newborn screening for cystic fibrosis in Turkey: Çukurova experience.
  Sasihüseyinoglu Ayse Senay et al. The Turkish journal of pediatrics 2019 61(4) 505-512