Detalhe da pesquisa
1.
DisProt in 2024: improving function annotation of intrinsically disordered proteins.
Nucleic Acids Res;
52(D1): D434-D441, 2024 Jan 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37904585
2.
MobiDB: 10 years of intrinsically disordered proteins.
Nucleic Acids Res;
51(D1): D438-D444, 2023 01 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36416266
3.
DisProt in 2022: improved quality and accessibility of protein intrinsic disorder annotation.
Nucleic Acids Res;
50(D1): D480-D487, 2022 01 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34850135
4.
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype.
J Hum Genet;
65(10): 855-864, 2020 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32467589
5.
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge.
Hum Mutat;
40(9): 1330-1345, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31144778
6.
DisProt 7.0: a major update of the database of disordered proteins.
Nucleic Acids Res;
45(D1): D219-D227, 2017 01 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27899601
7.
Corrigendum: DisProt 7.0: a major update of the database of disordered proteins.
Nucleic Acids Res;
45(D1): D1123-D1124, 2017 01 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27965415
8.
Best practices for the manual curation of intrinsically disordered proteins in DisProt.
Database (Oxford);
20242024 Mar 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38507044
9.
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Eur J Hum Genet;
31(2): 202-215, 2023 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36434256
10.
CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs).
Res Sq;
2023 Aug 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37577579
11.
The Gene Ontology knowledgebase in 2023.
Genetics;
224(1)2023 05 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36866529
12.
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy".
Front Neurol;
11: 593446, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33391157
13.
CNTNAP2 mutations and autosomal dominant epilepsy with auditory features.
Epilepsy Res;
139: 51-53, 2018 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29179159
14.
Downregulation of GABAA Receptor Recycling Mediated by HAP1 Contributes to Neuronal Death in In Vitro Brain Ischemia.
Mol Neurobiol;
54(1): 45-57, 2017 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26732589