Rare Diseases
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Last Posted: Nov 08, 2019
- 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
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