Detalhe da pesquisa
1.
Deficiency in the nuclear long noncoding RNA Charme causes myogenic defects and heart remodeling in mice.
EMBO J
; 37(18)2018 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30177572
2.
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Prenat Diagn
; 42(13): 1575-1586, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36403097
3.
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.
Int J Mol Sci
; 22(24)2021 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34948243
4.
PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis.
Cancer Cell Int
; 19: 274, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31673247
5.
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia.
Br J Haematol
; 184(4): 657-659, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460960
6.
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes
Front Oncol
; 11: 649435, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34026625
7.
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes.
Front Oncol
; 11: 740860, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34485163
8.
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.
Brain Sci
; 11(7)2021 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34356170
9.
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research.
Eur J Hum Genet
; 29(5): 745-759, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33456056
10.
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
11.
RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report.
Front Oncol
; 10: 1467, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32974172
12.
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
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.
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
15.
Clinical and molecular characterization of COVID-19 hospitalized patients.
PLoS One
; 15(11): e0242534, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33206719
16.
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population.
Eur J Hum Genet
; 28(11): 1602-1614, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681121
17.
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients.
Cancer Med
; 9(6): 2052-2061, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31991072
18.
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
19.
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
20.
Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay.
J Autism Dev Disord
; 52(10): 4605-4607, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34709531