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Disruptive CHD8 mutations define a subtype of autism early in development. Stessman H. A genotype-first approach to defining the subtypes of a complex disease. Helsmoortel C.
Mullegama S. Phenotypic and molecular convergence of 2q Giannandrea M. De novo gene disruptions in children on the autistic spectrum. Neale B. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Fromer M. De novo mutations in schizophrenia implicate synaptic networks.
Fukai R. A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.see url
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Buxbaum J. Gulsuner S. Deciphering Developmental Disorders S. Hashimoto R. Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder. Krumm N. Excess of rare, inherited truncating mutations in autism. Sanders S. White J. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly. Cold Spring Harb. Case Stud. Nozawa R. Cell Biol.
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Hormozdiari F. The discovery of integrated gene networks for autism and related disorders. Genome Res. Isidor B. De novo truncating mutations in the kinetochore-microtubules attachment gene CHAMP1 cause syndromic intellectual disability. Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Fischbach G.
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The Simons Simplex Collection: a resource for identification of autism genetic risk factors. The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses. Samocha K. A framework for the interpretation of de novo mutation in human disease. Rosenfeld J. Estimates of penetrance for recurrent pathogenic copy-number variations. Dietzl G. A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila. Willemsen M.
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. CEP89 is required for mitochondrial metabolism and neuronal function in man and fly. Kramer J.
PLoS Biol. Coe B. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Achenbach T. Child Dev. GTEx Consortium Human genomics. Drosophila models of early onset cognitive disorders and their clinical applications.
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Flicek P. Ensembl Ruan J. Graveley B. The developmental transcriptome of Drosophila melanogaster. Chintapalli V. Using FlyAtlas to identify better Drosophila melanogaster models of human disease. Brand A. Targeted gene expression as a means of altering cell fates and generating dominant phenotypes. Engel J.
Altered habituation of an identified escape circuit in Drosophila memory mutants. Homsy J. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.