(Q36695120)

15 August 2017

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome (English)

1 reference

15 August 2017

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intellectual disability

1 reference

disability affecting intellectual abilities

inferred from title

1 reference

inferred from title

author

Hermann-Josef Lüdecke

4

Johanna Christina Czeschik

Hermann-Josef Lüdecke

0 references

10

Johanna Christina Czeschik

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Avner Schlessinger

22

Avner Schlessinger

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Laura Mazzanti

Laura Mazzanti

18

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author name string

Alma Kuechler

1

1 reference

15 August 2017

Alexander M Zink

2

1 reference

15 August 2017

Thomas Wieland

3

1 reference

15 August 2017

Kirsten Cremer

5

1 reference

15 August 2017

Leonardo Salviati

6

1 reference

15 August 2017

Pamela Magini

7

1 reference

15 August 2017

Kimia Najafi

8

1 reference

15 August 2017

Christiane Zweier

9

1 reference

15 August 2017

Stefan Aretz

11

1 reference

15 August 2017

Sabine Endele

12

1 reference

15 August 2017

Federica Tamburrino

13

1 reference

15 August 2017

Claudia Pinato

14

1 reference

15 August 2017

Maurizio Clementi

15

1 reference

15 August 2017

Jasmin Gundlach

16

1 reference

15 August 2017

Carina Maylahn

17

1 reference

15 August 2017

Eva Wohlleber

19

1 reference

15 August 2017

Thomas Schwarzmayr

20

1 reference

15 August 2017

Roxana Kariminejad

21

1 reference

15 August 2017

Avner Schlessinger

22

1 reference

15 August 2017

Dagmar Wieczorek

23

1 reference

15 August 2017

Tim M Strom

24

1 reference

15 August 2017

Gaia Novarino

25

1 reference

15 August 2017

Hartmut Engels

26

1 reference

15 August 2017

20 August 2014

1 reference

European Journal of Human Genetics

15 August 2017

1 reference

15 August 2017

23

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15 August 2017

6

1 reference

15 August 2017

753-760

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https://scigraph.springernature.com/pub.10.1038/ejhg.2014.165

15 August 2017

0 references

cites work

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

CRISPR-Cas systems for editing, regulating and targeting genomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

The role of microhomology in genomic structural variation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

The genetics of cognitive epigenetics.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

Genome engineering using the CRISPR-Cas9 system

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

Genic intolerance to functional variation and the interpretation of personal genomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

Evolution of modular intraflagellar transport from a coatomer-like progenitor.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

Multiplex genome engineering using CRISPR/Cas systems

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

Updates in the genetic evaluation of the child with global developmental delay or intellectual disability

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

Identification of 67 histone marks and histone lysine crotonylation as a new type of histone modification

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

Genetic and epigenetic networks in intellectual disabilities.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

A conserved coatomer-related complex containing Sec13 and Seh1 dynamically associates with the vacuole in Saccharomyces cerevisiae

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

Genetics of early onset cognitive impairment

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

MutationTaster evaluates disease-causing potential of sequence alterations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

The PHD finger, a nuclear protein-interaction domain

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

The diverse functions of histone lysine methylation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

Regulation of chromatin structure by site-specific histone H3 methyltransferases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

SET domain proteins modulate chromatin domains in eu- and heterochromatin.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

Diagnostic exome sequencing in persons with severe intellectual disability

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

Microarray based analysis of 3p25-p26 deletions (3p- syndrome).

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795044

Distal 3p deletion syndrome: detailed molecular cytogenetic and clinical characterization of three small distal deletions and review

5 September 2018

1 reference

12 December 2020

Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1.

1 reference

12 December 2020

Microdeletion on 3p25 in a patient with features of 3p deletion syndrome

1 reference

12 December 2020

Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability

1 reference

12 December 2020

Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region

1 reference

12 December 2020

https://api.crossref.org/works/10.1038%2FEJHG.2014.165

1 reference

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2014.165

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

25138099

1 reference