Neurology Genetics · 2017 · 25 citations · 5 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeurogeneticsGenetic DisordersGenetic SyndromesMendelian DisordersMendelian Neurological DisordersNeurodevelopmental GeneticsNeurogenetic DisordersAutosomal Recessive InheritanceDevelopmental Disorder GenomicsExome SequencingGenetic Neurodevelopmental SyndromesMendelian Neurodevelopmental DisordersNeurodevelopmental Disorder MutationsWhole Exome Sequencing StudiesWhole-exome Sequencing Analysis
Pontocerebellar hypoplasias (PCHs) are a genetically and clinically heterogeneous group of autosomal recessive inherited neurodevelopmental disorders. In the past decade, whole-exome sequencing (WES) has led to the identification of new genes, allowing the recognition of at least 10 different PCH types with broad and overlapping phenotypes.1
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Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki et al. · Science · 2014 · 540 citations
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
Birgit Budde, Yasmin Namavar, P. G. Barth et al. · Nature Genetics · 2008 · 256 citations