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1.
Extent of investigation and management of cases of 'unexplained' mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus.
J Med Genet
; 2024 Apr 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-38531626
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38154813
3.
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice.
J Med Genet
; 60(2): 107-111, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35260474
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36572524
5.
Management of patients with germline predisposition to haematological malignancies considered for allogeneic blood and marrow transplantation: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar, NHS England Genomic Laboratory Hub (GLH) Haematological Malignancies Working Group and the British Society of Blood and Marrow Transplantation and cellular therapy (BSBMTCT).
Br J Haematol
; 201(1): 35-44, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36786081
6.
Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar and the NHS England Haematological Oncology Working Group.
Br J Haematol
; 201(1): 25-34, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36744544
7.
KIT-Associated Familial GIST Syndrome: Response to Tyrosine Kinase Inhibitors and Implications for Risk Management.
Oncologist
; 27(8): 615-620, 2022 08 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35791894
8.
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Genet Med
; 24(1): 41-50, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906457
9.
A systematic review and meta-analysis of telephone vs in-person genetic counseling in BRCA1/BRCA2 genetic testing.
J Genet Couns
; 30(2): 563-573, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33131182
10.
Sleep disordered breathing in children with Down syndrome in the Republic of Ireland.
Am J Med Genet A
; 182(12): 2847-2856, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32902194
11.
Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes: APC c.3920T>A p.(Ile1307Lys) as an exemplar.
J Med Genet
; 2024 May 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38697781
12.
Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations.
J Med Genet
; 2024 May 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-38816194
13.
Non-syndromic bilateral ulnar aplasia with humero-radial synostosis and oligo-ectro-dactyly.
Am J Med Genet A
; 176(5): 1180-1183, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29427337
14.
Effectiveness of contrast-associated acute kidney injury prevention methods; a systematic review and network meta-analysis.
BMC Nephrol
; 19(1): 323, 2018 11 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-30424723
15.
Management strategies for the colonoscopic surveillance of people with Lynch syndrome during the COVID-19 pandemic.
Gut
; 70(3): 624-626, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32571974
16.
Should All Individuals Be Screened for Genetic Predisposition to Cancer?
Genet Res (Camb)
; 2021: 6611963, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33762893
17.
A genetic variant at 12p11 significantly modifies breast cancer risk in a genetically homogenous island population.
Breast Cancer Res Treat
; 149(1): 41-7, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25476496
18.
A germline mutation in the BRCA1 3'UTR predicts Stage IV breast cancer.
BMC Cancer
; 14: 421, 2014 Jun 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-24915755
19.
The acquisition and retention of urinary catheterisation skills using surgical simulator devices: teaching method or student traits.
BMC Med Educ
; 14: 264, 2014 Dec 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-25527869
20.
Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance.
Ir J Med Sci
; 2024 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38489124