Detalhe da pesquisa
1.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Brain;
146(2): 534-548, 2023 02 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35979925
2.
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients.
Genes Immun;
23(1): 51-56, 2022 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34952932
3.
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Hum Genet;
141(1): 147-173, 2022 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34889978
4.
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome.
Exp Cell Res;
368(2): 225-235, 2018 07 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29730163
5.
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death.
Sci Rep;
14(1): 3000, 2024 02 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38321133
6.
HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19.
HLA;
103(1): e15251, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37850268
7.
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response.
Commun Med (Lond);
4(1): 63, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38575714
8.
Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey.
Children (Basel);
10(9)2023 Aug 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37761403
9.
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes.
Cells;
11(24)2022 12 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36552859
10.
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males.
Autophagy;
18(7): 1662-1672, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34964709
11.
SELP Asp603Asn and severe thrombosis in COVID-19 males.
J Hematol Oncol;
14(1): 123, 2021 08 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34399825
12.
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males.
EBioMedicine;
65: 103246, 2021 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33647767
13.
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.
Eur J Hum Genet;
28(9): 1231-1242, 2020 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32332872
14.
AAV-mediated FOXG1 gene editing in human Rett primary cells.
Eur J Hum Genet;
28(10): 1446-1458, 2020 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32541681
15.
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.
Eur J Hum Genet;
28(4): 480-490, 2020 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31754267
16.
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.
Eur J Hum Genet;
32(1): 134, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36732665
17.
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.
Eur J Hum Genet;
32(1): 131, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36653516
18.
Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males.
J Hematol Oncol;
16(1): 11, 2023 Feb 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36793121