Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

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Targeted resequencing identifies genes with recurrent variation in cerebral palsy

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Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism

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Genomic analysis identifies masqueraders of full-term cerebral palsy

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Spastin Interacts with CRMP5 to Promote Neurite Outgrowth by Controlling Microtubule Dynamics

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Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

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PANTHER version 14: more genomes, a new PANTHER GO-slim and improvements in enrichment analysis tools

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Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

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De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

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Truncating mutations of SPAST associated with hereditary spastic paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

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Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways

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Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families

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Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

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Congenital anomalies in cerebral palsy: where to from here?

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Sex differences in cerebral palsy on neuromotor outcome: a critical review

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Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants

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Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay

(2016) Myungjin Kim et al.   eLife

De novopoint mutations in patients diagnosed with ataxic cerebral palsy

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Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

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(2015) Richard A. Gibbs et al.   NATURE

Excess of rare, inherited truncating mutations in autism

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Copy number variations in cryptogenic cerebral palsy

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De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

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Clinically relevant copy number variations detected in cerebral palsy

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Quantitative Analysis of Climbing Defects in a Drosophila Model of Neurodegenerative Disorders

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Brain structural connectivity increases concurrent with functional improvement: Evidence from diffusion tensor MRI in children with cerebral palsy during therapy

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Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

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A Bayesian framework for de novo mutation calling in parents-offspring trios

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Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family

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Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A

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Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

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A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Medico-legal implications of hypoxic–ischemic birth injury

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AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

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Fault and Blame, Insults to the Perinatal Brain may be Remote from Time of Birth

(2013) Sidhartha Tan   CLINICS IN PERINATOLOGY

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Rare copy number variation in cerebral palsy

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Atlastin-1 regulates dendritic morphogenesis in mouse cerebral cortex

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The Centrosomal E3 Ubiquitin Ligase FBXO31-SCF Regulates Neuronal Morphogenesis and Migration

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Hallmarks in the history of cerebral palsy: From antiquity to mid-20th century

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Brain magnetic resonance imaging and motor and intellectual functioning in 86 patients born at term with spastic diplegia

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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

(2011) Joachim Hallmayer   ARCHIVES OF GENERAL PSYCHIATRY

Neuritogenesis: the prion protein controls β1 integrin signaling activity

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Wild-type and A315T mutant TDP-43 exert differential neurotoxicity in a Drosophila model of ALS

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Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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The C Terminus of Tubulin, a Versatile Partner for Cationic Molecules

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A Role for RhoB in Synaptic Plasticity and the Regulation of Neuronal Morphology

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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Homotypic fusion of ER membranes requires the dynamin-like GTPase Atlastin

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Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

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Oncogenic mutations of ALK kinase in neuroblastoma

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Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma

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