Detalhe da pesquisa
1.
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Am J Hum Genet
; 111(6): 1140-1164, 2024 Jun 06.
Artigo
Inglês
| MEDLINE | ID: mdl-38776926
2.
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.
J Med Genet
; 61(4): 305-312, 2024 Mar 21.
Artigo
Inglês
| MEDLINE | ID: mdl-38154813
3.
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.
Genet Med
; 26(3): 101051, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38131308
4.
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
J Med Genet
; 60(7): 669-678, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36572524
5.
Germline variant testing in serrated polyposis syndrome.
J Gastroenterol Hepatol
; 37(5): 861-869, 2022 May.
Artigo
Inglês
| MEDLINE | ID: mdl-35128723
6.
A comparison of methods for EGFR mutation testing in non-small cell lung cancer.
Diagn Mol Pathol
; 22(4): 190-5, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24193010