Davide Piscia
Overview
Explore the profile of Davide Piscia including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
13
Citations
147
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer A, et al.
Nat Med
. 2025 Jan;
31(2):478-489.
PMID: 39825153
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource,...
2.
Johansson L, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, et al.
Gigascience
. 2024 Sep;
13.
PMID: 39302238
The Solve-RD project brings together clinicians, scientists, and patient representatives from 51 institutes spanning 15 countries to collaborate on genetically diagnosing ("solving") rare diseases (RDs). The project aims to significantly...
3.
Lagorce D, Lebreton E, Matalonga L, Hongnat O, Chahdil M, Piscia D, et al.
Eur J Hum Genet
. 2023 Nov;
32(2):182-189.
PMID: 37926714
Rare diseases (RD) have a prevalence of not more than 1/2000 persons in the European population, and are characterised by the difficulty experienced in obtaining a correct and timely diagnosis....
4.
Quintana I, Terradas M, Mur P, Te Paske I, Peters S, Spier I, et al.
Genes Dis
. 2023 Jul;
10(3):753-757.
PMID: 37396538
No abstract available.
5.
Corvo A, Matalonga L, Spalding D, Senf A, Laurie S, Pico-Amador D, et al.
Cell Genom
. 2023 Feb;
3(2):100246.
PMID: 36819661
The Solve-RD project objectives include solving undiagnosed rare diseases (RD) through collaborative research on shared genome-phenome datasets. The RD-Connect Genome-Phenome Analysis Platform (GPAP), for data collation and analysis, and the...
6.
Jacobsen J, Baudis M, Baynam G, Beckmann J, Beltran S, Buske O, et al.
Nat Biotechnol
. 2022 Jun;
40(6):817-820.
PMID: 35705716
No abstract available.
7.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, et al.
J Mol Diagn
. 2022 May;
24(5):529-542.
PMID: 35569879
Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing genomic data has shown to increase diagnostic yield, although there are few systematic and comprehensive...
8.
Laurie S, Piscia D, Matalonga L, Corvo A, Fernandez-Callejo M, Garcia-Linares C, et al.
Hum Mutat
. 2022 Feb;
43(6):717-733.
PMID: 35178824
Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or...
9.
Ghose R, Aranguren-Ibanez A, Arecco N, Balboa D, Bataller M, Beltran S, et al.
F1000Res
. 2021 Nov;
9:1336.
PMID: 34745570
The COVID-19 pandemic has posed and is continuously posing enormous societal and health challenges worldwide. The research community has mobilized to develop novel projects to find a cure or a...
10.
Matalonga L, Hernandez-Ferrer C, Piscia D, Schule R, Synofzik M, Topf A, et al.
Eur J Hum Genet
. 2021 Aug;
29(9):1466-1469.
PMID: 34393220
No abstract available.