Detalhe da pesquisa
1.
Natural history of KBG syndrome in a large European cohort.
Hum Mol Genet
; 31(24): 4131-4142, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861666
2.
A new mutation in DNM2 gene in a large Italian family.
Neurol Sci
; 42(6): 2509-2513, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33459893
3.
A pilot study of next generation sequencing-liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel-Trenaunay syndrome.
Vascular
; 29(1): 85-91, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32588787
4.
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
5.
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.
Am J Med Genet A
; 191(1): 284-288, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36210549
6.
Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder.
Braz J Psychiatry
; 45(1): 11-19, 2023 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35881528
7.
Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype.
Front Genet
; 14: 1143795, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36761000
8.
Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder.
Genes (Basel)
; 13(4)2022 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456494
9.
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype.
Eur J Med Genet
; 64(1): 104102, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33220470
10.
Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype.
Front Genet
; 12: 761264, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34925453
11.
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay.
Genes (Basel)
; 12(9)2021 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573300
12.
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy.
J Vasc Surg Venous Lymphat Disord
; 9(3): 740-744, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32858245
13.
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
14.
Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants.
J Pers Med
; 11(6)2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34203982
15.
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
16.
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
17.
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
18.
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
19.
Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation.
JVS Vasc Sci
; 1: 176-180, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-34617046
20.
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