Rare Diseases [NEW TOPIC PAGE]

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Last Posted: Feb 26, 2020

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• Angelman Syndrome: a journey through the brain. 
  Maranga Carina et al. The FEBS journal 2020 Feb
• Automatic Recognition of Laryngoscopic Images Using a Deep-Learning Technique. 
  Ren Jianjun et al. The Laryngoscope 2020 Feb
• Clinical Care Recommendations for Cardiologists Treating Adults With Myotonic Dystrophy. 
  McNally Elizabeth M et al. Journal of the American Heart Association 2020 Feb 9(4) e014006
• Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative. 
  Hansmann Sandra et al. Pediatric rheumatology online journal 2020 Feb 18(1) 17
• Ethical concerns around use of artificial intelligence in health care research from the perspective of patients with meningioma, caregivers and health care providers: a qualitative study. 
  McCradden Melissa D et al. CMAJ open 8(1) E90-E95
• Expression and Prognostic Significance of m6A-Related Genes in Lung Adenocarcinoma. 
  Zhang Yingying et al. Medical science monitor : international medical journal of experimental and clinical research 2020 Feb 26e919644
• Genetic Predisposition to Myelodysplastic Syndrome in Clinical Practice. 
  Schratz Kristen E et al. Hematology/oncology clinics of North America 2020 Apr 34(2) 333-356
• Germline mutation in 1,338 BRCA-negative Chinese hereditary breast and/or ovarian cancer patients: clinical testing with a multigene test panel. 
  Kwong Ava et al. The Journal of molecular diagnostics : JMD 2020 Feb
• Improving Oral Cancer Outcomes with Imaging and Artificial Intelligence. 
  Ilhan B et al. Journal of dental research 2020 Mar 99(3) 241-248
• Penetrance and predictive value of genetic screening in acute porphyria. 
  Baumann K et al. Molecular genetics and metabolism 2020 Feb
• Using a single abdominal computed tomography image to differentiate five contrast-enhancement phases: A machine-learning algorithm for radiomics-based precision medicine. 
  Dercle Laurent et al. European journal of radiology 2020 Jan 125108850
• Association Between Genetically Proxied Inhibition of HMG-CoA Reductase and Epithelial Ovarian Cancer. 
  Yarmolinsky James et al. JAMA 2020 Feb (7) 646-655
• Adverse Outcomes and Economic Burden of Congenital Adrenal Hyperplasia Late Diagnosis in the Newborn Screening Absence. 
  Miranda Mirela Costa De et al. Journal of the Endocrine Society 2020 Feb 4(2) bvz013
• Challenges in molecular diagnosis of X-linked Intellectual disability. 
  De Luca Chiara et al. British medical bulletin 2020 Feb
• Clinical Impact and Cost Efficacy of Newborn Screening for Congenital Adrenal Hyperplasia. 
  Fox Danya A et al. The Journal of pediatrics 2020 Feb
• Facilitated referral pathway for genetic testing at the time of ovarian cancer diagnosis: uptake of genetic counseling and testing and impact on patient-reported stress, anxiety and depression. 
  Frey Melissa K et al. Gynecologic oncology 2020 Feb
• Familial Hypertrophic Cardiomyopathy: Late Potentials and Other Prognostic Markers. 
  Chaves-Markman Ândrea et al. Cureus 2020 Jan 12(1) e6530
• 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
• Review of current status of molecular diagnosis and characterization of monogenic diabetes mellitus: a focus on next-generation sequencing. 
  Campbell Michelle Renee et al. Expert review of molecular diagnostics 2020 Feb
• [Clinical Cancer Genetics: A guide for the pathologist]. 
  Basset Noémie et al. Annales de pathologie 2020 Feb