(Q53060436)

http://europepmc.org/abstract/PMC/6555908

1 July 2019

title

De novo mutations in HNRNPU result in a neurodevelopmental syndrome. (English)

1 reference

http://europepmc.org/abstract/PMC/6555908

1 July 2019

author

Meena Balasubramanian

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28944577%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Michael Yates

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28944577%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

5

Zornitza Stark

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28944577%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

author name string

Pradeep C Vasudevan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28944577%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Kate E Chandler

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28944577%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Deirdre E Donnelly

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28944577%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Simon Sadedin

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28944577%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Josh Willoughby

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28944577%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Broad Center for Mendelian Genomics

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28944577%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

DDD study

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28944577%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

language of work or name

English

0 references

publication date

25 September 2017

1 reference

http://europepmc.org/abstract/PMC/6555908

1 July 2019

published in

American Journal of Medical Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28944577%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

173

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28944577%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:28944577%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

3003-3012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28944577%20AND%20SRC:MED&resulttype=core&format=json

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

31 May 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38492

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38492

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38492

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38492

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38492

De novo mutations in epileptic encephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38492

The hnRNP family: insights into their role in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38492

De novo mutations in moderate or severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38492

The matrix protein hnRNP U is required for chromosomal localization of Xist RNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38492

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38492

Conserved function of the long noncoding RNA Blnc1 in brown adipocyte differentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38492

Clinical application of exome sequencing in undiagnosed genetic conditions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38492

The Matchmaker Exchange: a platform for rare disease gene discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38492

A Comprehensive Analysis of Cell Type-Specific Nuclear RNA From Neurons and Glia of the Brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38492

Hypomorphic mutation in hnRNP U results in post-implantation lethality

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38492

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38492

hnRNP U protein is required for normal pre-mRNA splicing and postnatal heart development and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38492

Maternal isodisomy of chromosome 9 with no impact on the phenotype in a woman with two isochromosomes: i(9p) and i(9q)

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28944577

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28944577

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.38492

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28944577%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28944577%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference