Rare copy number variation in cerebral palsy

Customised assessment of fetal growth potential: implications for perinatal care

(2012) Jason Gardosi   Archives of Disease in Childhood-Fetal and Neonatal Edition

Genetic insights into the causes and classification of the cerebral palsies

(2012) Andres Moreno-De-Luca et al.   LANCET NEUROLOGY

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

(2012) Peter Bauer et al.   NEUROGENETICS

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

(2011) Rami Abou Jamra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations

(2011) Miriam Aza-Carmona et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Rare structural variation of synapse and neurotransmission genes in autism

(2011) X Gai et al.   MOLECULAR PSYCHIATRY

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Epidemiologic Associations With Cerebral Palsy

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

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

(2011) Santhosh Girirajan et al.   PLoS Genetics

What constitutes cerebral palsy?

(2010) Nadia Badawi et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Development and reliability of a system to classify gross motor function in children with cerebral palsy

(2010) Robert Palisano et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

Variability in gene expression underlies incomplete penetrance

(2010) Arjun Raj et al.   NATURE

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

Understanding variable expressivity in microdeletion syndromes

(2010) Joris A Veltman et al.   NATURE GENETICS

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

(2009) Annemieke J.M.H. Verkerk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

(2009) C. G. F. de Kovel et al.   BRAIN

Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders

(2009) HM Ozgen et al.   CLINICAL GENETICS

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

(2009) H. C. Mefford et al.   GENOME RESEARCH

The genomic basis of cerebral palsy: a HuGE systematic literature review

(2009) M. E. O’Callaghan et al.   HUMAN GENETICS

Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients

(2008) Terry Vrijenhoek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Peroxisomal acyl‐CoA‐oxidase deficiency: Two new cases

(2008) Rosalba Carrozzo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome

(2008) Jessica Molina et al.   HUMAN MOLECULAR GENETICS