(Q101141250)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

title

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Kohei Hamanaka

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Matias Wagner

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Markus Ries

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Winnie Peitee Ong

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Hui Bein Chew

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Kavitha Rethanavelu

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Emmanuelle Ranza

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Xavier Blanc

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Yuri Uchiyama

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Naomi Tsuchida

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Atsushi Takata

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Noriko Miyake

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Etsuko Miyagi

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Yoshinori Tsurusaki

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Hiroshi Doi

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Stilianos Antonarakis

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Mitsuko Nakashima

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Hirotomo Saitsu

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Naomichi Matsumoto

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

author name string

Kazunori Sasaki

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Urania Kotzaeridou

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Ines Brösse

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Yu Kobayashi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Jun Tohyama

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Mitsuhiro Kato

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Atsushi Fujita

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Yoshiteru Azuma

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Eriko Koshimizu

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Takeshi Mizuguchi

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Hidehisa Takahashi

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Masataka Taguri

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

Satoko Miyatake

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

publication date

1 November 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

A method and server for predicting damaging missense mutations

4 November 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

NLSdb-major update for database of nuclear localization signals and nuclear export signals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

Diversity and conservation of CELF1 and CELF2 RNA and protein expression patterns during embryonic development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

Developmentally-regulated expression of mNapor encoding an apoptosis-induced ELAV-type RNA binding protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

Isolation and expression of Napor/CUG-BP2 in embryo development.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

Structural Biology and Regulation of Protein Import into the Nucleus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

The importance of CELF control: molecular and biological roles of the CUG-BP, Elav-like family of RNA-binding proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

Prevalence and architecture of de novo mutations in developmental disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

The mutational constraint spectrum quantified from variation in 141,456 humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

A general framework for estimating the relative pathogenicity of human genetic variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

Multiple domains control the subcellular localization and activity of ETR-3, a regulator of nuclear and cytoplasmic RNA processing events

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

Dynamic balance between activation and repression regulates pre-mRNA alternative splicing during heart development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

Rules for nuclear localization sequence recognition by karyopherin beta 2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

Modular organization and combinatorial energetics of proline-tyrosine nuclear localization signals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

Etiology of a genetically complex seizure disorder in Celf4 mutant mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

Exome sequencing supports a de novo mutational paradigm for schizophrenia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

Genome-wide characteristics of de novo mutations in autism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.24130

7 January 2021

Identifiers

DOI

10.1002/HUMU.24130

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33131106%20AND%20SRC:MED&resulttype=core&format=json

4 November 2020

1 reference