Detalhe da pesquisa
1.
The histone demethylase PHF8 regulates astrocyte differentiation and function.
Development
; 148(12)2021 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34081130
2.
Choosing Variant Interpretation Tools for Clinical Applications: Context Matters.
Int J Mol Sci
; 24(14)2023 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37511631
3.
PHF2 histone demethylase prevents DNA damage and genome instability by controlling cell cycle progression of neural progenitors.
Proc Natl Acad Sci U S A
; 116(39): 19464-19473, 2019 09 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31488723
4.
A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.
Clin Chem
; 67(3): 518-533, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33280026
5.
Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants.
Int J Mol Sci
; 22(12)2021 Jun 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34207612
6.
Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts.
FASEB J
; 33(6): 7168-7179, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30848931
7.
Lineage specific transcription factors and epigenetic regulators mediate TGFß-dependent enhancer activation.
Nucleic Acids Res
; 46(7): 3351-3365, 2018 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29438503
8.
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.
Hum Mutat
; 40(9): 1593-1611, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31112341
9.
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
Hum Mutat
; 40(9): 1546-1556, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31294896
10.
PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update.
Nucleic Acids Res
; 45(W1): W222-W228, 2017 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28453649
11.
The histone demethylase PHF8 is a molecular safeguard of the IFNγ response.
Nucleic Acids Res
; 45(7): 3800-3811, 2017 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28100697
12.
Structural and Computational Characterization of Disease-Related Mutations Involved in Protein-Protein Interfaces.
Int J Mol Sci
; 20(7)2019 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30934865
13.
Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence.
BMC Genomics
; 18(Suppl 5): 569, 2017 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28812538
14.
Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.
Int J Cancer
; 141(7): 1365-1380, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28577310
15.
Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.
J Clin Immunol
; 37(8): 781-789, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942469
16.
Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome.
Biochim Biophys Acta Mol Basis Dis
; 1863(1): 182-187, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27613247
17.
The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid Substitutions.
Hum Mutat
; 37(10): 1013-24, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27397615
18.
Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome.
Clin Immunol
; 163: 60-5, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26748374
19.
Novel Mutations Causing C5 Deficiency in Three North-African Families.
J Clin Immunol
; 36(4): 388-96, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27026170
20.
Risk of electromagnetic interference induced by dental equipment on cardiac implantable electrical devices.
Eur J Oral Sci
; 124(6): 559-565, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27748971