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Rare Diseases

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Last Posted: Apr 11, 2019

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• Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results.  
  Thomas Caroline et al. Clinical immunology (Orlando, Fla.) 2019 Apr 20233-39
• Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India.  
  Sachdeva Anupam et al. Indian pediatrics 2019 Mar 56(3) 221-228
• Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR.  
  Nakaguma Marilena et al. Endocrine connections 2019 Apr
• Identifying Alpha-1 Antitrypsin Deficiency Based on Computed Tomography Evidence of Emphysema.  
  Miskoff Jeffrey A et al. Cureus 2019 Jan 11(1) e3971
• Newborn screening for cystic fibrosis: Is there benefit for everyone?  
  Course C W et al. Paediatric respiratory reviews 2019 Feb
• The Economic Burden of Cystic Fibrosis in Germany from a Payer Perspective.  
  Frey Simon et al. PharmacoEconomics 2019 Apr
• Better Cholera Counts Through Machine Learning Models.  
  Abbasi Jennifer et al. JAMA 2019 Apr (14) 1343
• Evaluation of telephone genetic counselling to facilitate germline BRCA1/2 testing in women with high-grade serous ovarian cancer.  
  Tutty Erin et al. European journal of human genetics : EJHG 2019 Apr
• [Application of next-generation sequencing in the molecular diagnosis of Duchenne muscular dystrophy].  
  Tian Pei-Chao et al. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2019 Mar 21(3) 244-248
• [Variant analysis for patients from Fujian area with Hong Kong αα type thalassemia]. 
  Zhang Min et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 Apr 36(4) 297-300
• Recent progress in laboratory diagnosis of thalassemia and hemoglobinopathy: a study by the Korean Red Blood Cell Disorder Working Party of the Korean Society of Hematology.  
  Lee Young Kyung et al. Blood research 2019 Mar 54(1) 17-22
• Seasonal malaria vector and transmission dynamics in western Burkina Faso.  
  Epopa Patric Stephane et al. Malaria journal 2019 Apr 18(1) 113
• Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.  
  Giau Vo Van et al. International journal of molecular sciences 2019 Mar 20(6)
• Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients.  
  Zhang Yan et al. Molecular genetics & genomic medicine 2019 Apr e622
• Assessing the Hereditary Hemorrhagic Telangiectasia Algorithms in a Community-Based Patient Population.  
  Saparia Tina et al. The Permanente journal 2019 23
• Brugada Syndrome: Progress in Genetics, Risk Stratification and Management.  
  Romero Jorge et al. Arrhythmia & electrophysiology review 2019 Mar 8(1) 19-27
• Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.  
  Zampatti Stefania et al. Neurogenetics 2019 Mar
• Genomic subtyping and therapeutic targeting of acute erythroleukemia.  
  Iacobucci Ilaria et al. Nature genetics 2019 Apr 51(4) 694-704
• Lack of consensus in ALS genetic testing practices and divergent views between ALS clinicians and patients.  
  Klepek Holly et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2019 Apr 1-6
• Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.  
  Feliubadaló Lídia et al. International journal of cancer 2019 Mar