Rare Diseases [NEW TOPIC PAGE]

Hot Topics of the Day|PHGKB

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Last Posted: Apr 06, 2020

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• Assessment of Specimen Pooling to Conserve SARS CoV-2 Testing Resources 
  B Abdalhamid et al, MEDRXIV, April 6, 2020
• Comparative genomics suggests limited variability and similar evolutionary patterns between major clades of SARS-Cov-2 
  M Chiara et al, BIORXIV, April 4, 2020
• Genomic epidemiology of SARS-CoV-2 in Guangdong Province, China 
  J Lu et al, MEDRXIV, April 4, 2020
• The Coronavirus Patients Betrayed by Their Own Immune Systems 
  New York Times, April 1, 2020
• Using ILI surveillance to estimate state-specific case detection rates and forecast SARS-CoV-2 spread in the United States 
  JD Silverman et al, MEDRXIV, April 3, 2020
• [Severe combined immunodeficiency: The time for newborn screening has come]. 
  Hoyos Bachiloglu Rodrigo et al. Revista chilena de pediatria 2019 Dec 90(6) 581-588
• Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations. 
  Skotko Brian G et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 21(10) 2285-2292
• Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants. 
  Cline Melissa S et al. Human mutation 2019 40(9) 1546-1556
• Biomarker panel for early detection of endometrial cancer in the Prostate, Lung, Colorectal, and Ovarian cancer screening trial. 
  Tarney Christopher M et al. American journal of obstetrics and gynecology 2019 221(5) 472.e1-472.e10
• Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature. 
  Schönewolf-Greulich B et al. Clinical genetics 2019 95(2) 221-230
• Comparison of the screening practices of unaffected noncarriers under 40 and between 40 and 49 in BRCA1/2 families. 
  Duprez Christelle et al. Journal of genetic counseling 2013 Aug 22(4) 469-81
• Comprehensive Genomic Profiling of Hodgkin Lymphoma Reveals Recurrently Mutated Genes and Increased Mutation Burden. 
  Liang Winnie S et al. The oncologist 2019 24(2) 219-228
• Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease. 
  Khan Mubeen et al. Human mutation 2019 40(10) 1749-1759
• Genetic approaches to the treatment of inherited neuromuscular diseases. 
  Ravi Bhavya et al. Human molecular genetics 2019 28(R1) R55-R64
• Management of Juvenile Polyposis Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group. 
  Cohen Shlomi et al. Journal of pediatric gastroenterology and nutrition 2019 68(3) 453-462
• Management of Peutz-Jeghers Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group. 
  Latchford Andrew et al. Journal of pediatric gastroenterology and nutrition 2019 68(3) 442-452
• Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants. 
  Romanet Pauline et al. Human mutation 2019 40(6) 661-674
• Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines. 
  Martin K et al. Orphanet journal of rare diseases 2019 14(1) 133
• Recent advances in molecular therapies for neurological disease: triplet repeat disorders. 
  Gonzalez-Alegre Pedro et al. Human molecular genetics 2019 28(R1) R80-R87
• Short Tandem Repeats Used in Preimplantation Genetic Testing of Β-Thalassemia: Genetic Polymorphisms For 15 Linked Loci in the Vietnamese Population. 
  Truong Dang Tien et al. Open access Macedonian journal of medical sciences 2019 Dec 7(24) 4383-4388