Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders

(2012) Magdalena Bartnik et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Array comparative genomic hybridization: Results from an adult population with drug-resistant epilepsy and co-morbidities

(2012) Elizabeth C. Galizia et al.   European Journal of Medical Genetics

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia

(2011) Mark A. Corbett et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Abundant Pleiotropy in Human Complex Diseases and Traits

(2011) Shanya Sivakumaran et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare copy number variants are an important cause of epileptic encephalopathies

(2011) Heather C. Mefford et al.   ANNALS OF NEUROLOGY

Clinical Significance of Rare Copy Number Variations in Epilepsy

(2011) Pasquale Striano   ARCHIVES OF NEUROLOGY

A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism

(2011) HE Yu et al.   CLINICAL GENETICS

Genetic contribution to common epilepsies

(2011) Sanjay M Sisodiya et al.   CURRENT OPINION IN NEUROLOGY

Epilepsy and the new cytogenetics

(2011) John C. Mulley et al.   EPILEPSIA

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

(2010) Mark A. Corbett et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

(2010) Erin L. Heinzen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of theTRPM1,CHRNA7, and other homozygously deleted genes

(2010) Jean-Baptiste LePichon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results

(2010) Sung-Hae L. Kang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3

(2010) Sarah E. Heron et al.   EPILEPSIA

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

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Genetically complex epilepsies, copy number variants and syndrome constellations

(2010) Heather C Mefford et al.   Genome Medicine

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

(2010) Heather C. Mefford et al.   PLoS Genetics

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth 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

SCN1Aduplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

(2009) Carla Marini et al.   EPILEPSIA

Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 includingCACNA1Aassociated with mental retardation and epilepsy with infantile spasms

(2009) Stéphane Auvin et al.   EPILEPSIA

Xp22.3 genomic deletions involving theCDKL5gene in girls with early onset epileptic encephalopathy

(2009) Davide Mei et al.   EPILEPSIA

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment and seizures

(2009) Stephen R Williams et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

(2009) Hashem Shahin et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

(2009) Sandesh Chakravarthy Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities

(2009) Anna Bremer et al.   European Journal of Medical Genetics

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

(2009) L. M. Dibbens et al.   HUMAN MOLECULAR GENETICS

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi et al.   JOURNAL OF MEDICAL GENETICS

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

Microchromosomal deletions involvingSCN1Aand adjacent genes in severe myoclonic epilepsy in infancy

(2008) Ji-wen Wang et al.   EPILEPSIA

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

(2008) Leanne M Dibbens et al.   NATURE GENETICS

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE