Lessons learned from additional research analyses of unsolved clinical exome cases - Eldomery, Mohammad K.; Coban-Akdemir, Zeynep; Harel, Tamar; Rosenfeld, Jill A.; Gambin, Tomasz; Stray-Pedersen, Asbjørg; Küry, Sébastien; Mercier, Sandra; Lessel, Davor; Denecke, Jonas; Wiszniewski, Wojciech; Penney, Samantha; et al. (Genome medicine, 2017)
Keywords: Adenosine Triphosphatases - genetics; Age; Alleles; Ataxia; ATPases Associated with Diverse Cellular Activities; Autism; Bcl protein; Bioinformatics; Burrows; Calcium channels (voltage-gated); Cerebellar ataxia; Cerebellum; Cholesterol; Clonal deletion; Coenzyme A; Computational Biology - methods; Computer applications; Computer programs; DNA Copy Number Variations; DNA-Binding Proteins - genetics; Epilepsy; Exome; Exons; Female; Genes; Genetic Diseases, Inborn - diagnosis; Genetic Diseases, Inborn - genetics; Genetic Diseases, Inborn - metabolism; Genomics; Genomics - methods; GTP-Binding Protein beta Subunits - genetics; Humans; Laboratories; Macular degeneration; Male; Membrane Proteins - genetics; Metalloendopeptidases - genetics; Mitochondrial Proteins - genetics; Mutation; Nucleotide sequence; Pathogenicity; Pilot Projects; Polymorphism, Single Nucleotide; Retina; Sequence Analysis, DNA - methods; Siblings; Transcription Factors - genetics