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Functional impact of global rare copy number variation in autism spectrum disorders
TLDR
The genome-wide characteristics of rare (<1% frequency) copy number variation in ASD are analysed using dense genotyping arrays to reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
A forkhead-domain gene is mutated in a severe speech and language disorder
TLDR
It is suggested that the gene FOXP2, which encodes a putative transcription factor containing a polyglutamine tract and a forkhead DNA-binding domain, is involved in the developmental process that culminates in speech and language.
Molecular evolution of FOXP2, a gene involved in speech and language
TLDR
It is shown that human FOXP2 contains changes in amino-acid coding and a pattern of nucleotide polymorphism, which strongly suggest that this gene has been the target of selection during recent human evolution.
A functional genetic link between distinct developmental language disorders.
TLDR
The FOXP2-CNTNAP2 pathway provides a mechanistic link between clinically distinct syndromes involving disrupted language, and is found to be associated with language delays in children with autism.
Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
TLDR
The 14 kb human Duchenne muscular dystrophy cDNA corresponding to a complete representation of the fetal skeletal muscle transcript has been cloned and the majority of deletions are concentrated in a single genomic segment corresponding to only 2 kb of the transcript.
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
TLDR
The complete sequence of the human Duchenne muscular dystrophy cDNA has been determined and dystrophin shares many features with the cytoskeletal protein spectrin and alpha-actinin and is likely to adopt a rod shape about 150 nm in length.
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
TLDR
Linkage and copy number variation analyses implicate chromosome 11p12–p13 and neurexins, respectively, among other candidate loci, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
TLDR
The gene responsible for the disease, DAX-1, which is deleted or mutated in X-linked adrenal hypoplasia patients, is isolated and encodes a new member of the nuclear hormone receptor super-family displaying a novel DNA-binding domain.
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.
TLDR
A molecular mechanism to explain the clinical difference in severity between DMD and BMD patients who bear partial deletions of the same gene locus is presented and is applicable to potential 5' and 3' intron splice mutations and their effect on protein production and clinical phenotype.
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
TLDR
Empirical evidence of shared genetic etiology for psychiatric disorders can inform nosology and encourages the investigation of common pathophysiologies for related disorders.
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