Laboratory genetics and genomics

777 - Identification of Novel Genes in Patients with Autism Spectrum Disorders (ASD) Using Exome Sequencing

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771 - A Novel Bioinformatics Pipeline for Clinical Mitogenome Diagnostics

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781 - Sudden Unexplained Infant Death (SUID): “Molecular Autopsy” Using SUID Next Generation Sequencing Panel
782 - Evaluation of the Advanta™ CFTR NGS Library Prep Assay and the Juno™ System:  Perspective of a Diagnostic Testing Laboratory
787 - EWSR1 C-terminal Deletion Detected by FISH may Represent EWSR1 Rearrangement 
790 - Utility of Next Generation Sequencing Based Gene Panel in Reproductive Medicine – a Pilot Study on Indian Population
793 - GenomeDiver: An Interactive Tool to Explore Phenotypes and Variants in Interpreting Genetic Testing Results
794 - Incidental Finding of Hematological Malignancy by Whole Exome Sequencing and Chromosomal Microarray
804 - Sex Chromosome Abnormalities Identified among 3240 Participants in the Colorado Center for Personalized Medicine Biobank
815 - A 15Mb terminal deletion in a female with relatively normal clinical presentation further highlights phenotypic variability of 4q deletion syndrome
824 - Clinical Utility of Overlapping Gene Lists for Identifying Candidate Genes for Neurodevelopmental Disorders
825 - Molecular Diagnosis in Patients with Hereditary Spastic Paraplegia using Targeted NGS panels