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Rare Diseases

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Last Posted: Jan 24, 2020

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• Acute leukemias harboring KMT2A/MLLT10 fusion: a 10-year experience from a single genomics laboratory. 
  Peterson Jess F et al. Genes, chromosomes & cancer 2019 58(8) 567-577
• Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders. 
  Giugliano Teresa et al. Genes 2019 10(8)
• Combination therapy of brain radiotherapy and EGFR-TKIs is more effective than TKIs alone for EGFR-mutant lung adenocarcinoma patients with asymptomatic brain metastasis. 
  Chen Yanxin et al. BMC cancer 2019 Aug 19(1) 793
• Discovery of 5-Signature Predicting Survival of Patients with Lower-Grade Glioma. 
  Xiao Huaming et al. World neurosurgery 2019 Jun 126e765-e772
• EGFR Mutations in Cell-free Plasma DNA from Patients with Advanced Lung Adenocarcinoma: Improved Detection by Droplet Digital PCR. 
  Buder Anna et al. Targeted oncology 2019 14(2) 197-203
• Gene therapy as a potential therapeutic option for Duchenne muscular dystrophy: A qualitative preference study of patients and parents. 
  Landrum Peay Holly et al. PloS one 2019 14(5) e0213649
• Identification of a 5-Gene Signature Predicting Progression and Prognosis of Clear Cell Renal Cell Carcinoma. 
  Pan Qiufeng et al. Medical science monitor : international medical journal of experimental and clinical research 2019 Jun 254401-4413
• Promoter Hypermethylation of Tumor-Suppressor Genes p16 INK4a , RASSF1A , TIMP3 , and PCQAP/MED15 in Salivary DNA as a Quadruple Biomarker Panel for Early Detection of Oral and Oropharyngeal Cancers. 
  Liyanage Chamikara et al. Biomolecules 2019 9(4)
• Spectrum of mutations of cystic fibrosis in the 22 Arab countries: A systematic review. 
  Al-Sadeq Duaa et al. Respirology (Carlton, Vic.) 2019 24(2) 127-136
• A 13-gene risk score system and a nomogram survival model for predicting the prognosis of clear cell renal cell carcinoma. 
  Zhang Chao et al. Urologic oncology 2020 Jan
• Applications of Next Generation Sequencing to the Analysis of Familial Breast/Ovarian Cancer. 
  Zelli Veronica et al. High-throughput 2020 Jan 9(1)
• Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. 
  Rochtus Anne et al. Epilepsia 2020 Jan
• Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population. 
  Noor Farjana Akther et al. Orphanet journal of rare diseases 2020 Jan 15(1) 15
• Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia. 
  Vats Pallavi et al. Indian pediatrics 2020 Jan 57(1) 49-55
• Newborn screening for Fabry disease in the western region of Japan. 
  Sawada Takaaki et al. Molecular genetics and metabolism reports 2020 Mar 22100562
• Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review. 
  Pugliese Michael et al. Orphanet journal of rare diseases 2020 Jan 15(1) 12
• Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD study. 
  Jahan Sadia et al. Orphanet journal of rare diseases 2020 Jan 15(1) 10
• Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy. 
  Ramchand Jay et al. Journal of the American Heart Association 2020 Jan 9(2) e013346
• The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes. 
  Welsink-Karssies M M et al. Molecular genetics and metabolism 2020 Jan
• Clinical diagnostics and treatment strategies for Philadelphia chromosome-like acute lymphoblastic leukemia. 
  Harvey Richard C et al. Blood advances 2020 Jan 4(1) 218-228