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

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

(2016) Yu Kobayashi et al.   BRAIN & DEVELOPMENT

Gestational stress induces the unfolded protein response, resulting in heart defects

(2016) Hongjun Shi et al.   DEVELOPMENT

A special supplement: findings from the Australian Cerebral Palsy Register, birth years 1993 to 2006

(2016) Hayley Smithers-Sheedy et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

HeterozygousKIDINS220/ARMSnonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

(2016) Dragana J. Josifova et al.   HUMAN MOLECULAR GENETICS

PANTHER version 11: expanded annotation data from Gene Ontology and Reactome pathways, and data analysis tool enhancements

(2016) Huaiyu Mi et al.   NUCLEIC ACIDS RESEARCH

The Interaction between the Immune System and Epigenetics in the Etiology of Autism Spectrum Disorders

(2016) Stefano Nardone et al.   Frontiers in Neuroscience

De novopoint mutations in patients diagnosed with ataxic cerebral palsy

(2015) Ricardo Parolin Schnekenberg et al.   BRAIN

Altering 5-hydroxymethylcytosine modification impacts ischemic brain injury

(2015) Zhigang Miao et al.   HUMAN MOLECULAR GENETICS

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

(2015) G McMichael et al.   MOLECULAR PSYCHIATRY

Copy number variations in cryptogenic cerebral palsy

(2015) R. Segel et al.   NEUROLOGY

Rare variants in the neurotrophin signaling pathway implicated in schizophrenia risk

(2015) Thorsten M. Kranz et al.   SCHIZOPHRENIA RESEARCH

Clinically relevant copy number variations detected in cerebral palsy

(2015) Maryam Oskoui et al.   Nature Communications

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

(2015) Katia Hardies et al.   HUMAN MOLECULAR GENETICS

A new syndrome of intellectual disability with dysmorphism due toTBL1XR1deletion

(2014) Linda Pons et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

HTSeq--a Python framework to work with high-throughput sequencing data

(2014) S. Anders et al.   BIOINFORMATICS

A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

(2014) Muhammad Jameel et al.   BMC Medical Genetics

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

(2014) Hengameh Abdollahpour et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Neurotrophins: Role in adverse pregnancy outcome

(2014) Madhavi Dhobale   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Brain-derived neurotrophic factor: a bridge between inflammation and neuroplasticity

(2014) Francesca Calabrese et al.   Frontiers in Cellular Neuroscience

Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism

(2014) Simone Gupta et al.   Nature Communications

Mutations in gamma adducin are associated with inherited cerebral palsy

(2013) Michael C. Kruer et al.   ANNALS OF NEUROLOGY

Rare copy number variation in cerebral palsy

(2013) Gai McMichael et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Familial KANK1 deletion that does not follow expected imprinting pattern

(2013) Rena J. Vanzo et al.   European Journal of Medical Genetics

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

Antecedents of Cerebral Palsy and Perinatal Death in Term and Late Preterm Singletons

(2013) Sarah McIntyre et al.   OBSTETRICS AND GYNECOLOGY

Thyroxin Treatment Protects Against White Matter Injury in The Immature Brain via Brain-Derived Neurotrophic Factor

(2013) P.-L. Hung et al.   STROKE

The sva package for removing batch effects and other unwanted variation in high-throughput experiments

(2012) Jeffrey T. Leek et al.   BIOINFORMATICS

Tertiary mechanisms of brain damage: a new hope for treatment of cerebral palsy?

(2012) Bobbi Fleiss et al.   LANCET NEUROLOGY

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

Epidemiologic Associations With Cerebral Palsy

(2011) Michael E. OʼCallaghan et al.   OBSTETRICS AND GYNECOLOGY

Dual-specificity histone demethylase KIAA1718 (KDM7A) regulates neural differentiation through FGF4

(2010) Chengyang Huang et al.   CELL RESEARCH

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

(2010) A. Moreno-De-Luca et al.   JOURNAL OF MEDICAL GENETICS

Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

(2010) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

(2009) M. D. Robinson et al.   BIOINFORMATICS

Fgfr1 Is Required for Cortical Regeneration and Repair after Perinatal Hypoxia

(2009) D. M. Fagel et al.   JOURNAL OF NEUROSCIENCE

WGCNA: an R package for weighted correlation network analysis

(2008) Peter Langfelder et al.   BMC BIOINFORMATICS