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List of works by Jackie Boyle

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.

scientific article

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

scientific article

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

scientific article

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability

scientific article

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

scientific article

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

scientific article

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

scientific article

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