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Rare Diseases

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Last Posted: Nov 08, 2019

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• Systematic review and meta-analysis of prognostic microRNA biomarkers for survival outcome in nasopharyngeal carcinoma. 
  Sabarimurugan Shanthi et al. PloS one 2019 14(2) e0209760
• High-resolution mapping of tuberculosis transmission: Whole genome sequencing and phylogenetic modelling of a cohort from Valencia Region, Spain. 
  Xu Yuanwei et al. PLoS medicine 2019 Oct (10) e1002961
• Clinical utility of plasma cell-free DNA in adult patients with newly diagnosed glioblastoma - a pilot prospective study. 
  Bagley Stephen et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2019 Oct
• Clinical Validation and Implementation of a Measurable Residual Disease Assay for NPM1 in Acute Myeloid Leukemia by Error-Corrected Next-Generation Sequencing. 
  Ritterhouse Lauren L et al. Molecular diagnosis & therapy 2019 Oct
• Cystic Fibrosis Diagnosis in Newborns, Children, and Adults. 
  Castellani Carlo et al. Seminars in respiratory and critical care medicine 2019 Nov
• Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years. 
  Skov Marianne et al. Pediatric pulmonology 2019 Nov
• Five genes as a novel signature for predicting the prognosis of patients with laryngeal cancer. 
  Zhang Guihai et al. Journal of cellular biochemistry 2019 Oct
• High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults. 
  Hureaux Marguerite et al. Kidney international 2019 Sep
• Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain). 
  Martin-Nalda Andrea et al. Molecular genetics & genomic medicine 2019 Oct e1016
• Impact of Genetic Testing on Risk-Management Behavior of Black Breast Cancer Survivors: A Longitudinal, Observational Study. 
  Conley Claire C et al. Annals of surgical oncology 2019 Nov
• International consensus on the use of genetics in the management of hereditary angioedema. 
  Germenis Anastasios E et al. The journal of allergy and clinical immunology. In practice 2019 Oct
• Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium. 
  Goggins Michael et al. Gut 2019 Oct
• Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism ? 
  Coppin Lucie et al. European journal of endocrinology 2019 Oct
• Survey of primary care physicians' views about breast and ovarian cancer screening for true BRCA1/2 non-carriers. 
  Pelletier S et al. Journal of community genetics 2019 Oct
• Validation of fetal DNA fraction estimation and its application in noninvasive prenatal testing for aneuploidy detection in multiple pregnancies. 
  Chen Min et al. Prenatal diagnosis 2019 Oct
• Evaluation of the accuracy of 99DOTS, a novel cellphone-based strategy for monitoring adherence to tuberculosis medications 
  BE Thomas et al, MedRXIV, November 5, 2019
• Gene-Editing Advance Puts More Gene-Based Cures Within Reach 
  F Collins, NIH Director Blog, November 5, 2019
• Molecular genetic framework underlying pulmonary arterial hypertension. 
  Southgate Laura et al. Nature reviews. Cardiology 2019 Aug
• [Newborn screening program and blood amino acid profiling in early neonates with citrin deficiency]. 
  Tang C F et al. Zhonghua er ke za zhi = Chinese journal of pediatrics 2019 Oct 57(10) 797-801
• Automatic Prediction of Meningioma Grade Image Based on Data Amplification and Improved Convolutional Neural Network. 
  Zhu Hong et al. Computational and mathematical methods in medicine 2019 20197289273