Last Posted: Jan 24, 2019
- Brief Report: Clinical Utility of Cerebrospinal Fluid Cell Free-DNA as Liquid Biopsy for Leptomeningeal Metastases in ALK-Rearranged NSCLC.
Zheng Mei-Mei et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2019 Jan - MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism.
Capkova Pavlina et al. PeerJ 2019 6e6183 - The Oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders.
Patel Aara et al. Ophthalmology 2019 Jan - Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research.
Innes A Micheil et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Dec 178(4) 387-397 - Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder.
Du Xiujuan et al. Frontiers in genetics 2018 9594 - Genomic insights into multidrug-resistance, mating and virulence in Candida auris and related emerging species.
Muñoz José F et al. Nature communications 2018 Dec 9(1) 5346 - Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy
MA Corbett et al,. NPJ Genomic Medicine, Decemeber 2018 - Assessing copy number aberrations and copy-neutral loss-of-heterozygosity across the genome as best practice: An evidence-based review from the Cancer Genomics Consortium (CGC) working group for chronic lymphocytic leukemia.
Chun Kathy et al. Cancer genetics 2018 Dec 228-229236-250 - Utility of chromosomal microarray in anomalous fetuses.
Parchem Jacqueline G et al. Prenatal diagnosis 2018 38(2) 140-147 - Panel-based next-generation sequencing identifies prognostic and actionable genes in childhood acute lymphoblastic leukemia and is suitable for clinical sequencing.
Ishida Hisashi et al. Annals of hematology 2018 Nov
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