A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 (Q29147508)

4 April 2017

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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 (English)

1 reference

neurodevelopmental disorder

4 April 2017

main subject

1 reference

based on heuristic

inferred from title

EBF transcription factor 3

1 reference

positive regulation of transcription, DNA-templated

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

4

John G. Pappas

1 reference

4 April 2017

Coral G. Warr

14

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Shinya Yamamoto

object named as

Shinya Yamamoto

16

0 references

Hugo J. Bellen

object named as

Hugo J. Bellen

Undiagnosed Diseases Network

20

0 references

15

object named as

Undiagnosed Diseases Network

1 reference

4 April 2017

Hsiao-Tuan Chao

1

1 reference

4 April 2017

Mariska Davids

2

1 reference

4 April 2017

Elizabeth Burke

3

1 reference

4 April 2017

Jill A. Rosenfeld

5

1 reference

4 April 2017

Alexandra J. McCarty

6

1 reference

4 April 2017

Taylor Davis

7

1 reference

4 April 2017

Lynne Wolfe

8

1 reference

4 April 2017

Camilo Toro

9

1 reference

4 April 2017

Cynthia Tifft

10

1 reference

4 April 2017

Fan Xia

11

1 reference

4 April 2017

Nicholas Stong

12

1 reference

4 April 2017

Travis K. Johnson

13

1 reference

4 April 2017

David R. Adams

17

1 reference

4 April 2017

Thomas C. Markello

18

1 reference

4 April 2017

William A. Gahl

19

1 reference

4 April 2017

Michael F. Wangler

21

1 reference

4 April 2017

May Christine V. Malicdan

22

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4 April 2017

publication date

5 January 2017

1 reference

American Journal of Human Genetics

4 April 2017

language of work or name

English

0 references

published in

1 reference

4 April 2017

volume

100

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4 April 2017

issue

1

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4 April 2017

page(s)

128–137

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Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

4 April 2017

cites work

1 reference

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Analysis of protein-coding genetic variation in 60,706 humans

6 April 2017

1 reference

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Reducing neurodevelopmental disorders and disability through research and interventions

6 April 2017

1 reference

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A framework for the interpretation of de novo mutation in human disease

6 April 2017

1 reference

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De novo mutations in epileptic encephalopathies

6 April 2017

1 reference

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"Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders

6 April 2017

1 reference

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Patterns and rates of exonic de novo mutations in autism spectrum disorders

6 April 2017

1 reference

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

6 April 2017

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A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)

6 April 2017

1 reference

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The EBF/Olf/Collier family of transcription factors: regulators of differentiation in cells originating from all three embryonal germ layers.

6 April 2017

1 reference

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Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

6 April 2017

1 reference

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Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation

6 April 2017

1 reference

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ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

6 April 2017

1 reference

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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

6 April 2017

1 reference

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The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223093

EBF contains a novel zinc coordination motif and multiple dimerization and transcriptional activation domains

6 April 2017

1 reference

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The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

6 April 2017

1 reference

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Morgan's legacy: fruit flies and the functional annotation of conserved genes.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223093

Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223093

A library of MiMICs allows tagging of genes and reversible, spatial and temporal knockdown of proteins in Drosophila

3 June 2018

1 reference

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Plug-and-play genetic access to drosophila cell types using exchangeable exon cassettes

3 June 2018

1 reference

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Gene-specific cell labeling using MiMIC transposons.

3 June 2018

1 reference

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Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

3 June 2018

1 reference

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Generation of a transgenic ORFeome library in Drosophila.

3 June 2018

1 reference

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

3 June 2018

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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

3 June 2018

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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

3 June 2018

1 reference

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Genic intolerance to functional variation and the interpretation of personal genomes

3 June 2018

1 reference

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De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

3 June 2018

1 reference

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The generation of chromosomal deletions to provide extensive coverage and subdivision of the Drosophila melanogaster genome

3 June 2018

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Early B-cell factors 2 and 3 (EBF2/3) regulate early migration of Cajal-Retzius cells from the cortical hem.

3 June 2018

1 reference

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MiMIC: a highly versatile transposon insertion resource for engineering Drosophila melanogaster genes

3 June 2018

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Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

3 June 2018

1 reference

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Fate of cajal-retzius neurons in the postnatal mouse neocortex.

3 June 2018

1 reference

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Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity

3 June 2018

1 reference

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Identification of Arx transcriptional targets in the developing basal forebrain

3 June 2018

1 reference

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Distinct ontogenic and regional expressions of newly identified Cajal-Retzius cell-specific genes during neocorticogenesis

3 June 2018

1 reference

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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223093

Xebf3 is a regulator of neuronal differentiation during primary neurogenesis in Xenopus.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223093

The COE transcription factor Collier is a mediator of short-range Hedgehog-induced patterning of the Drosophila wing

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223093

unc-3, a gene required for axonal guidance in Caenorhabditis elegans, encodes a member of the O/E family of transcription factors.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223093

Family of Ebf/Olf-1-related genes potentially involved in neuronal differentiation and regional specification in the central nervous system

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223093

Constitutively Methylated Cp G Dinucleotides as Mutation Hot Spots in the Retinoblastoma Gene (RB1)

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223093

The characterization of the Olf-1/EBF-like HLH transcription factor family: implications in olfactory gene regulation and neuronal development

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223093

Collier, a novel regulator of Drosophila head development, is expressed in a single mitotic domain

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223093

Ubiquitous and tenacious methylation of the CpG site in codon 248 of the p53 gene may explain its frequent appearance as a mutational hot spot in human cancer

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223093

Genes Encoding Components of the Olfactory Signal Transduction Cascade Contain a DNA Binding Site That May Direct Neuronal Expression

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223093

FOXP1mutations cause intellectual disability and a recognizable phenotype

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223093

Diagnostic exome sequencing in persons with severe intellectual disability

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223093

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223093

A mechanism for inside-out lamination in the neocortex

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223093

Refinement of the genetic cause of ATR-16.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223093

Genetic disruptions of O/E2 and O/E3 genes reveal involvement in olfactory receptor neuron projection

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223093

Head versus trunk patterning in the Drosophila embryo; collier requirement for formation of the intercalary segment

26 November 2018

1 reference

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Recommendations for introducing genetics services in developing countries

26 November 2018

1 reference

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inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2016.11.018

1 reference

4 April 2017

0 references

1 reference