Next Generation Sequencing Technologies in Medical Genetics (SpringerBriefs in Genetics)

Genome Analysis and Human Health. Transgenic Models in Endocrinology.

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You've successfully reported this review. We appreciate your feedback. October 16, Imprint: Disease-causing variants in TCF4 are a frequent cause of intellectual disability: European Journal of Human Genetics Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome. Genetics in Medecine Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

Journal of Assisted Reproduction and Genetics SCA13 causes dominantly inherited non-progressive myoclonus ataxia. Intragenic FMR1 disease-causing variants: American Journal of Human Genetics Expanding the spectrum of PEXrelated peroxisomal biogenesis disorders: Journal of Neurology Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

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Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. Orphanet Journal of Rare Diseases. Frontiers in Physiology Journal of Human Genetics A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. Journal of Medical Genetic