(Q34431288)

2 August 2017

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

1 reference

2 August 2017

0 references

intellectual disability

1 reference

disability affecting intellectual abilities

inferred from title

1 reference

high-throughput sequencing

inferred from title

1 reference

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Jean Muller

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Angélique Quartier

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Dominique Bonneau

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Didier Lacombe

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Julien Thevenon

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Amélie Piton

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

39

Martine Doco-Fenzy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

23

Bérénice Doray

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Michèle Mathieu-Dramard

31

object named as

Michèle Mathieu-Dramard

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

12

Serge Vicaire

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1

Claire Redin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

4

Yvan Herenger

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

44

Bernard Jost

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

2

Bénédicte Gérard

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

10

Salima El-Chehadeh

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

16

Claire Feger

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

42

Patrick Edery

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

22

Hélène Dollfus

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Christel Thauvin-Robinet

37

object named as

Christel Thauvin-Robinet

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

26

Elisabeth Flori

1 reference

31 May 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

21

Estelle Colin

1 reference

31 May 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

17

Nicolas Haumesser

1 reference

31 May 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

7

Alice Masurel-Paulet

1 reference

31 May 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

Dominique Martin-Coignard

32

object named as

Dominique Martin-Coignard

1 reference

31 May 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

28

Christine Francannet

1 reference

31 May 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

Julia Lauer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Marjolaine Willems

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Gaétan Lesca

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Stéphanie Le Gras

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Muriel Philipps

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Michaël Dumas

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Véronique Geoffroy

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Yves Alembik

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Magalie Barth

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Marie-Ange Delrue

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Valérie Drouin-Garraud

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Mélanie Fradin

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Alice Goldenberg

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Serge Lumbroso

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Gilles Morin

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Anne Polge

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Sylvie Sukno

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

David Genevieve

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Pierre Sarda

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Bertrand Isidor

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Laurence Olivier-Faivre

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

language of work or name

English

0 references

publication date

28 August 2014

1 reference

Journal of Medical Genetics

2 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

724-736

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

Genome sequencing identifies major causes of severe intellectual disability

31 May 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Further confirmation of the MED13L haploinsufficiency syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

The human language-associated gene SRPX2 regulates synapse formation and vocalization in mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Clinical whole-exome sequencing for the diagnosis of mendelian 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=4215287

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

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=4215287

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

XLID-causing mutations and associated genes challenged in light of data from large-scale human 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=4215287

Expanding the phenotype of IQSEC2 mutations: truncating mutations in 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=4215287

Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Dosage changes of MED13L further delineate its role in congenital heart defects and 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=4215287

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

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=4215287

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and 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=4215287

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

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=4215287

A noncoding, regulatory mutation implicates HCFC1 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=4215287

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

De Novo Gene Disruptions in Children on the Autistic 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=4215287

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=4215287

Fragile X and X-linked intellectual disability: four decades of discovery

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of 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=4215287

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Oligogenic heterozygosity in individuals with high-functioning 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=4215287

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=4215287

Prevalence of intellectual disability: a meta-analysis of population-based studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Genetics of early onset cognitive impairment

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause 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=4215287

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

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=4215287

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

No evidence for involvement of genetic variants in the X-linked neuroligin genes NLGN3 and NLGN4X in probands with autism spectrum disorder on high functioning level

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

The epidemiology of mental retardation: challenges and opportunities in the new millennium

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

A study of possible heterogeneity in Duchenne muscular dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Diagnostic exome sequencing in persons with severe intellectual disability

6 July 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102554

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102554

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102554

Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102554

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102554

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102554

Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102554

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102554

Parent-child exome sequencing identifies a de novo truncating mutation in TCF4 in non-syndromic intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102554

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102554

Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102554

Analysis of four neuroligin genes as candidates for autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102554

Filamin A mutation is one cause of FG syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102554

Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102554

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102554

Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102554

Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102554

Mutations in the chromatin-associated protein ATRX.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102554

Deletion status and intellectual impairment in Duchenne muscular dystrophy.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215287

Analysis ofELP4,SRPX2, and interacting genes in typical and atypical rolandic epilepsy

27 October 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102554

Central nervous system manifestations in childhood muscular dystrophy (CMD). I. Psychometric and electroencephalographic findings

21 January 2018

1 reference

12 December 2020

Large genomic rearrangements in MECP2

1 reference

12 December 2020

Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly

1 reference

12 December 2020

Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6

1 reference

12 December 2020

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature

1 reference

12 December 2020

10.1136/JMEDGENET-2014-102554

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25167861%20AND%20SRC:MED&resulttype=core&format=json