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Last Posted: Jun 06, 2019

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• AFM's Terrifying Randomness May Not Be So Random - Why does a virus leave one child paralyzed and others unscathed  
  C Arnold, Johns Hopkins School of Public Health, June 2019
• Cost-effectiveness of screening for HLA-B*1502 prior to initiation of carbamazepine in epilepsy patients of Asian ancestry in the United States.  
  Choi Hyunmi et al. Epilepsia 2019 Jun
• Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing.  
  Dallali Hamza et al. Acta diabetologica 2019 May 56(5) 515-523
• Genome-wide cell-free DNA fragmentation in patients with cancer.  
  Cristiano Stephen et al. Nature 2019 May
• Long-Term Outcomes and Aggressiveness of Hereditary Medullary Thyroid Carcinoma: 40 Years of Experience at One Center.  
  Raue Friedhelm et al. The Journal of clinical endocrinology and metabolism 2019 May
• Multiple displacement amplification as the first step can increase the diagnostic efficiency of preimplantation genetic testing for monogenic disease for β-thalassemia.  
  Fu Yu et al. The journal of obstetrics and gynaecology research 2019 May
• A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.  
  Barman-Aksözen Jasmin et al. Scandinavian journal of clinical and laboratory investigation 2019 Jun 1-9
• Adjusted Cost Analysis of Video Televisits for the Care of People with ALS.  
  Paganoni Sabrina et al. Muscle & nerve 2019 May
• Bespoke Babies: Genome Editing in Cystic Fibrosis Embryos.  
  Brothers Kyle B et al. The Annals of thoracic surgery 2019 May
• Current challenges in the management of patients with sickle cell disease - A report of the Italian experience.  
  Russo Giovanna et al. Orphanet journal of rare diseases 2019 14(1) 120
• Ethical issues in denial of church wedding based on couple's hemoglobin genotype in Enugu, south eastern Nigeria.  
  Ezugwu Euzebus C et al. BMC medical ethics 2019 May 20(1) 37
• Nutritional counseling with or without mobile health technology: a randomized open-label standard-of-care-controlled trial in ALS.  
  Wills Anne Marie et al. BMC neurology 2019 May 19(1) 104
• Predicting cochlear dead regions in patients with hearing loss through a machine learning-based approach: A preliminary study.  
  Chang Young-Soo et al. PloS one 2019 14(6) e0217790
• The implications and management of cystic fibrosis screen positive, inconclusive diagnosis patients.  
  Krishnananthan Thanuja et al. Paediatric respiratory reviews 2019 Mar
• The role of retinal photography and telemedicine in ROP screening.  
  Quinn Graham E et al. Seminars in perinatology 2019 May
• New Opportunities and Challenges in Hemophilia Care: 2019 Update  
  CDC Public Health Seminar, June 6, 2019
• Tumor-Stroma Proportion as a Predictive Biomarker of Resistance to Platinum-Based Chemotherapy in Patients With Ovarian Cancer  
  E Lou et al, JAMA Oncology, June 1, 2019
• Genetic Variation in LPA, Calcific Aortic Valve Stenosis in Patients Undergoing Cardiac Surgery, and Familial Risk of Aortic Valve Microcalcification.  
  Perrot Nicolas et al. JAMA cardiology 2019 May
• Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.  
  Yamaguchi-Kabata Yumi et al. Human genetics 2019 Apr 138(4) 389-409
• Evaluation of Cancer-Based Criteria for Use in Mainstream BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer.  
  Kemp Zoe et al. JAMA network open 2019 May 2(5) e194428