Characterization of X Chromosome Inactivation Using Integrated Analysis of Whole-Exome and mRNA Sequencing

Eitemau Tebyg

• A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome
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  Cyhoeddwyd: (2015)
• Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities
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  Cyhoeddwyd: (2015)
• A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia
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  Cyhoeddwyd: (2016)
• Novel pathogenic variants and genes for myopathies identified by whole exome sequencing
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  Cyhoeddwyd: (2015)
• Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability [version 1; referees: 2 approved]
  gan: Erika Banuelos, et al.
  Cyhoeddwyd: (2017-04-01)