• A new form of X-linked mental retardation with growth retardation, deafness, and microgenitalism
• Construction of a YAC contig spanning the Xq13.3 subband
• Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase
• Helicases and aging
• HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
• Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities
• Juberg-Marsidi syndrome: report of an additional case
• Lethal X-linked microcephaly with dysmorphic features, bilateral optic pathway aplasia and normal eyes
• Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?
• Molecular-clinical spectrum of the ATR-X syndrome
• Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia
• The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21)
• X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene
• XNP mutation in a large family with Juberg-Marsidi syndrome