Detalhe da pesquisa
1.
Germline mutations in WNK2 could be associated with serrated polyposis syndrome.
J Med Genet
; 60(6): 557-567, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36270769
2.
Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer.
Gastric Cancer
; 26(5): 653-666, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37249750
3.
Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.
Kidney Int
; 97(2): 370-382, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31874800
4.
Candidate Gene Discovery in Hereditary Colorectal Cancer and Polyposis Syndromes-Considerations for Future Studies.
Int J Mol Sci
; 21(22)2020 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33228212
5.
Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome.
Gastroenterology
; 163(6): 1691-1694.e7, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36037994
6.
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.
Eur J Hum Genet
; 32(2): 200-208, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37853102
7.
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD.
Eur J Med Genet
; 65(5): 104475, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35283344
8.
A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report.
Eur J Hum Genet
; 29(9): 1354-1358, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34075207
9.
Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.
Eur J Hum Genet
; 32(2): 248, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37973950
10.
Wnt genes in colonic polyposis predisposition.
Genes Dis
; 10(3): 753-757, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37396538