Solve-RD publications
|
Title |
Authors |
Journal |
Publication date |
DOI |
|
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses |
Steven Laurie, et al. |
Nature Medicine |
17 January 2025 |
|
|
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe) |
Kornelia Ellwanger, et al. |
Lab Animal |
24 June 2024 |
|
|
Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer |
Celina São José, et al. |
Gastric Cancer |
30 May 2023 |
|
|
Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome |
Iris B. A. W. te Paske, et al. |
Gastroenterology |
28 August 2022 |
|
|
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes– a collaborative multicentre endeavour within the project Solve-RD |
Anna K. Sommer, et al. |
European Journal of Medical Genetics |
11 March 2022 |
|
|
Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes |
José Garcia-Pelaez, et al. |
European Journal of Medical Genetics |
3 December 2021 |
|
|
The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing |
Rita Barbosa-Matos, et al. |
Cancers |
4 September 2021 |
|
|
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases |
Birte Zurek, et al. |
European Journal of Human Genetics |
1 June 2021 |
|
|
A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report |
Iris B. A. W. te Paske, et al. |
European Journal of Human Genetics |
1 June 2021 |
|
|
Candidate Gene Discovery in Hereditary Colorectal Cancer and Polyposis Syndromes–Considerations for Future Studies |
Iris B. A. W. te Paske, et al. |
International Journal of Molecular Sciences |
19 November 2020 |