Detalhe da pesquisa
1.
CMDB: the comprehensive population genome variation database of China.
Nucleic Acids Res
; 51(D1): D890-D895, 2023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35871305
2.
VIPPID: a gene-specific single nucleotide variant pathogenicity prediction tool for primary immunodeficiency diseases.
Brief Bioinform
; 23(5)2022 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35598327
3.
Integrated multi-omics analyses and functional validation reveal TTK as a novel EMT activator for endometrial cancer.
J Transl Med
; 21(1): 151, 2023 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36829176
4.
T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects.
J Clin Immunol
; 42(2): 375-393, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34825286
5.
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Ann Neurol
; 88(1): 18-32, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32219868
6.
Clinical implications of experimental analyses of AID function on predictive computational tools: Challenge of missense variants.
Clin Genet
; 97(6): 844-856, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32162335
7.
T cell receptor ß repertoires as novel diagnostic markers for systemic lupus erythematosus and rheumatoid arthritis.
Ann Rheum Dis
; 78(8): 1070-1078, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31101603
8.
Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency.
Genet Med
; 21(1): 243-251, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29921932
9.
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.
Hum Mol Genet
; 25(17): 3741-3753, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27402882
10.
Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.
Am J Hum Genet
; 96(2): 295-300, 2015 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25620207
11.
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.
Am J Hum Genet
; 97(1): 186-93, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26094573
12.
SMYD1 is the underlying gene for the AnWj-negative blood group phenotype.
Eur J Haematol
; 101(4): 496-501, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29956848
13.
A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism.
Hum Genet
; 136(7): 835-845, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28444561
14.
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.
Ann Neurol
; 79(2): 244-56, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26528954
15.
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome.
Cardiology
; 137(4): 256-260, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28494446
16.
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
Brain
; 139(Pt 3): 782-94, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26912632
17.
Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.
J Clin Immunol
; 36 Suppl 1: 68-75, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26993986
18.
Spectrum of Phenotypes Associated with Mutations in LRBA.
J Clin Immunol
; 36(1): 33-45, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26707784
19.
More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation.
Pediatr Allergy Immunol
; 32(4): 793-797, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369776
20.
Janus kinase inhibition in complement component 1 deficiency.
J Allergy Clin Immunol
; 146(6): 1439-1442.e5, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32325142