Rare Diseases Knowledge Base for the latest information on rare disease, genomics and precision health.

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Last Posted: Apr 04, 2019

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• 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
• Pharmacogenomics of chronic obstructive pulmonary disease.  
  Hersh Craig P et al. Expert review of respiratory medicine 2019 Mar
• Selected features of breast and peritoneal cancers diagnosed in BRCA1 carriers after risk-reducing salpingo-oophorectomy.  
  Menkiszak Janusz et al. Hereditary cancer in clinical practice 2019 1710
• Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta.  
  Hill Melissa et al. European journal of human genetics : EJHG 2019 Mar
• The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.  
  Abu Diab Alaa et al. Acta ophthalmologica 2019 Mar
• The impact of hereditary angioedema on quality of life and family planning decisions.  
  Kuman Tunçel Özlem et al. International journal of psychiatry in medicine 2019 Mar 91217419837068
• Current and emerging biologics for the treatment of hereditary angioedema.  
  Perego Francesca et al. Expert opinion on biological therapy 2019 Mar 1-10
• Diffusion-weighted imaging negative M232R familial Creutzfeldt-Jakob disease.  
  Kang Yoon-Jung et al. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2019 Mar
• Machine learning for patient risk stratification for acute respiratory distress syndrome.  
  Zeiberg Daniel et al. PloS one 2019 14(3) e0214465
• Management of genetically determined colorectal cancer.  
  Clark S K et al. The surgeon : journal of the Royal Colleges of Surgeons of Edinburgh and Ireland 2019 Mar
• Mutational testing in gastrointestinal stromal tumor.  
  Wang Yu et al. Current cancer drug targets 2019 Mar
• Precision medicine for cell therapy in acute respiratory distress syndrome - Authors' reply.  
  Matthay Michael A et al. The Lancet. Respiratory medicine 2019 Apr 7(4) e14
• Precision medicine for cell therapy in acute respiratory distress syndrome.  
  Zhang Haibo et al. The Lancet. Respiratory medicine 2019 Apr 7(4) e13