Novel genetic causes for cerebral visual impairment

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

(2015) Ahmet Okay Caglayan et al.   European Journal of Medical Genetics

A novel KCNQ3 gene mutation in a child with infantile convulsions and partial epilepsy with centrotemporal spikes

(2015) Carlo Fusco et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea

(2014) Fan Xia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

(2014) Daniëlle G.M. Bosch et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel variant inGABRB2associated with intellectual disability and epilepsy

(2014) Siddharth Srivastava et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novelKCNQ3mutation in familial epilepsy with focal seizures and intellectual disability

(2014) Francesco Miceli et al.   EPILEPSIA

Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novoGRIN2Amutation

(2014) Sunita Venkateswaran et al.   EPILEPSIA

The variable phenotypes of KCNQ-related epilepsy

(2014) Nicholas M. Allen et al.   EPILEPSIA

The genetic architecture of microphthalmia, anophthalmia and coloboma

(2014) Kathleen A. Williamson et al.   European Journal of Medical Genetics

Chromosomal aberrations in cerebral visual impairment

(2014) Daniëlle G.M. Bosch et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

(2014) Gregory M. Enns et al.   GENETICS IN MEDICINE

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

(2014) Claire Redin et al.   JOURNAL OF MEDICAL GENETICS

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

(2014) Mitsuko Nakashima et al.   NEUROGENETICS

The InterPro protein families database: the classification resource after 15 years

(2014) Alex Mitchell et al.   NUCLEIC ACIDS RESEARCH

Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes

(2014) Daniëlle GM Bosch et al.   BMC Ophthalmology

Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy

(2014) Yoshiko Murakami et al.   PLoS Genetics

Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

(2013) Bobby G. Ng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: A neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload

(2013) Kathryn J. Swoboda et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

GRIN2Bmutations in west syndrome and intellectual disability with focal epilepsy

(2013) Johannes R. Lemke et al.   ANNALS OF NEUROLOGY

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

(2013) Inga Freunscht et al.   Behavioral and Brain Functions

Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance

(2013) Federico Zara et al.   EPILEPSIA

De Novo Mutations inSLC35A2Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy

(2013) Hirofumi Kodera et al.   HUMAN MUTATION

NovelKCNQ2andKCNQ3Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A

(2013) Maria Virginia Soldovieri et al.   HUMAN MUTATION

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

(2013) Janneke H M Schuurs-Hoeijmakers et al.   JOURNAL OF MEDICAL GENETICS

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations inPIGT

(2013) Malin Kvarnung et al.   JOURNAL OF MEDICAL GENETICS

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Polycomb recruitment attenuates retinoic acid–induced transcription of the bivalent NR2F1 gene

(2013) Kristian B. Laursen et al.   NUCLEIC ACIDS RESEARCH

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Deletion 12p12 Involving SOX5 in Two Children With Developmental Delay and Dysmorphic Features

(2013) Ryan W.Y. Lee et al.   PEDIATRIC NEUROLOGY

An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions

(2013) Bum Jun Kim et al.   PLoS One

Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability

(2012) Ina Schanze et al.   European Journal of Medical Genetics

Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: A European case

(2012) Petja Fister et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Haploinsufficiency ofSOX5at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

(2012) Allen N. Lamb et al.   HUMAN MUTATION

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Changes in causes of low vision between 1988 and 2009 in a Dutch population of children

(2011) Nienke Boonstra et al.   ACTA OPHTHALMOLOGICA

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

(2011) G. Maydan et al.   JOURNAL OF MEDICAL GENETICS

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

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

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

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism

(2010) Eva Morava et al.   BRAIN

Rere controls retinoic acid signalling and somite bilateral symmetry

(2010) Gonçalo C. Vilhais-Neto et al.   NATURE

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

(2010) Sabine Endele et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Assessment of cerebral visual impairment with the L94 visual perceptual battery: clinical value and correlation with MRI findings

(2009) E ORTIBUS et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions

(2008) Haiyan Li et al.   EPILEPSY RESEARCH

KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes

(2008) B. A. Neubauer et al.   NEUROLOGY

Regulation of NMDA receptor subunit expression and its implications for LTD, LTP, and metaplasticity

(2008) Koji Yashiro et al.   NEUROPHARMACOLOGY