(Q34493173)

2 August 2017

Novel genetic causes for cerebral visual impairment (English)

1 reference

2 August 2017

1 reference

Joep de Ligt

6

0 references

Christian Gilissen

object named as

Christian Gilissen

7

0 references

James R. Lupski

9

object named as

James R Lupski

1 reference

2 August 2017

8

Shalini Jhangiani

1 reference

2 August 2017

4

Rolph Pfundt

1 reference

2 August 2017

11

Bert B A de Vries

1 reference

2 August 2017

3

Nicole de Leeuw

1 reference

2 August 2017

2

F Nienke Boonstra

1 reference

2 August 2017

Daniëlle G M Bosch

1

1 reference

PubMed ID

26350515

2 August 2017

Willy M Nillesen

5

1 reference

PubMed ID

26350515

2 August 2017

Frans P M Cremers

10

1 reference

2 August 2017

9 September 2015

1 reference

European Journal of Human Genetics

2 August 2017

1 reference

2 August 2017

24

1 reference

2 August 2017

5

1 reference

2 August 2017

660-665

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2015.186

2 August 2017

0 references

cites work

Cerebral visual impairment and intellectual disability caused by PGAP1 variants

1 reference

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

6 July 2018

1 reference

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A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability

6 July 2018

1 reference

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

6 July 2018

1 reference

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Molecular findings among patients referred for clinical whole-exome sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

The variable phenotypes of KCNQ-related epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

Genome sequencing identifies major causes of severe intellectual disability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

The genetic architecture of microphthalmia, anophthalmia and coloboma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

NR2F1 mutations cause optic atrophy with intellectual disability.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

De novo mutations in epileptic encephalopathies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

Rere controls retinoic acid signalling and somite bilateral symmetry

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

Histone deacetylase-associating Atrophin proteins are nuclear receptor corepressors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

Ophthalmic manifestations of congenital disorder of glycosylation type 1a.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

Cerebral visual impairment in children

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

Cortical visual impairment in infants and children

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

Cortical visual impairment in children

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

Targeted disruption of NMDA receptor 1 gene abolishes NMDA response and results in neonatal death

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

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

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

Cognitive visual impairment with good visual acuity in children with posterior periventricular white matter injury: a series of 7 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

Spectrum of visual disorders in children with cerebral visual impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

Cortical visual impairment: etiology, associated findings, and prognosis in a tertiary care setting.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

Cortical visual impairment in children with infantile spasms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

Chromosomal aberrations in cerebral visual impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

A novel variant in GABRB2 associated with intellectual disability and epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

Visual dysfunctions and ocular disorders in children with developmental delay. I. prevalence, diagnoses and aetiology of visual impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930090

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

27 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

Mutations in NGLY1 gene linked with new genetic disorder: parents' reports of children's symptoms help facilitate the discovery

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26350515

12 December 2020

inferred from PubMed ID database lookup

Orbital hydrocephalus: a proven cause for optic atrophy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26350515

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26350515

12 December 2020

inferred from PubMed ID database lookup

A novel mutation ofKCNQ3 (c.925T?C) in a Japanese family with benign familial neonatal convulsions

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.186

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2015.186

1 reference

2 August 2017

1 reference

2 August 2017

1 reference

PubMed ID

26350515