Subject Areas on Research
- A new resource for characterizing X-linked genes in Drosophila melanogaster: systematic coverage and subdivision of the X chromosome with nested, Y-linked duplications.
- A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.
- An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation.
- Association test for X-linked QTL in family-based designs.
- Bimodal quantitative relationships between histone modifications for X-linked and autosomal loci.
- Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
- Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?
- Novel CASK mutations in cases with syndromic microcephaly.
- Rare coding variants and X-linked loci associated with age at menarche.
- X-LRT: a likelihood approach to estimate genetic risks and test association with X-linked markers using a case-parents design.
- X-chromosome hyperactivation in mammals via nonlinear relationships between chromatin states and transcription.
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