A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability. (Q36902705)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

title

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

main subject

autism spectrum disorder

0 references

author

Thomas Bourgeron

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Julien Thevenon

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Julien Buratti

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Guillaume Dumas

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Richard Delorme

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Carlos Cardoso

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

32

Dominique Campion

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

33

Laurence Faivre

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Christel Thauvin-Robinet

15

object named as

Christel Thauvin-Robinet

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

16

Patrick Callier

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

30

Francine Mugneret

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

author name string

Anne-Laure Mosca-Boidron

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Lucie Gueneau

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Guillaume Huguet

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Alice Goldenberg

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Céline Henry

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Nadège Gigot

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Emilie Pallesi-Pocachard

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Antonio Falace

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Laurence Duplomb

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Yannis Duffourd

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Judith St-Onge

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Pascal Chambon

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Jean-Baptiste Rivière

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Nathalie Marle

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Muriel Payet

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Clemence Ragon

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Hany Goubran Botros

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Sophie Calderari

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Nathalie Lagarde

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Jean-Michel Pinoit

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Antoine Rosier

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Alice Masurel-Paulet

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Pascale Saugier-Veber

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

publication date

23 September 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

24 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

page(s)

838-843

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

From the genetic architecture to synaptic plasticity in autism spectrum disorder

24 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

The contribution of de novo coding mutations to autism spectrum disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

Synaptic, transcriptional and chromatin genes disrupted in autism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

Semaphorin 5A inhibits synaptogenesis in early postnatal- and adult-born hippocampal dentate granule cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

Most genetic risk for autism resides with common variation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

Semaphorins and the dynamic regulation of synapse assembly, refinement, and function.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

A de novo convergence of autism genetics and molecular neuroscience

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

The SEMA5A gene is associated with hippocampal volume, and their interaction is associated with performance on Raven's Progressive Matrices

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

The FMRP regulon: from targets to disease convergence

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

The genetic landscapes of autism spectrum disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

Common genetic variants, acting additively, are a major source of risk for autism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

A genome-wide linkage and association scan reveals novel loci for autism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

A synaptic trek to autism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

Semaphorin 5B mediates synapse elimination in hippocampal neurons

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

The Autistic Neuron: Troubled Translation?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

Neuroligins and neurexins link synaptic function to cognitive disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

Semaphorin signaling: progress made and promises ahead.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

Constitutional downregulation of SEMA5A expression in autism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

Semaphorin 5A is a bifunctional axon guidance cue regulated by heparan and chondroitin sulfate proteoglycans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

Developmental and behavioural characteristics of cri du chat syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

A novel class of murine semaphorins with homology to thrombospondin is differentially expressed during early embryogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

Semaphorin 5A is a bifunctional axon guidance cue for axial motoneurons in vivo.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867450

4 September 2018

Identifiers

DOI

10.1038/EJHG.2015.211

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

PubMed publication ID

26395558

1 reference