Detalhe da pesquisa
1.
Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions.
Am J Hum Genet
; 109(6): 1153-1174, 2022 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35659930
2.
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
Am J Hum Genet
; 108(9): 1551-1557, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34329581
3.
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.
J Med Genet
; 60(6): 568-575, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36600593
4.
Predictive functional assay-based classification of PMS2 variants in Lynch syndrome.
Hum Mutat
; 43(9): 1249-1258, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35451539
5.
Real world outcomes and implementation pathways of exome sequencing in an adult genetic department.
Genet Med
; 24(7): 1536-1544, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35416776
6.
Clinical impact of whole-genome sequencing in patients with early-onset dementia.
J Neurol Neurosurg Psychiatry
; 2022 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35906014
7.
Rivaroxaban in the treatment of TEK-related venous malformation.
Australas J Dermatol
; 63(3): e255-e258, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35460567
8.
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity.
J Med Genet
; 57(1): 62-69, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31391288
9.
A homozygous truncating variant in GDF9 in siblings with primary ovarian insufficiency.
J Assist Reprod Genet
; 38(6): 1539-1543, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33797006
10.
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.
Int J Mol Sci
; 22(11)2021 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34070858
11.
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Bioinformatics
; 35(13): 2315-2317, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30475984
12.
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.
Genet Med
; 22(5): 847-856, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31965077
13.
Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals.
Genet Med
; 22(11): 1883-1886, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32606442
14.
Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.
Genet Med
; 21(7): 1507-1516, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30523343
15.
A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.
Genet Med
; 21(7): 1486-1496, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30504929
16.
Pancreatic cancer as a sentinel for hereditary cancer predisposition.
BMC Cancer
; 18(1): 697, 2018 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29945567
17.
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.
Hum Mutat
; 38(1): 64-77, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27629256
18.
Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.
Int J Cancer
; 141(7): 1365-1380, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28577310
19.
Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families.
Breast Cancer Res Treat
; 166(3): 937-949, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28840378
20.
Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome.
Hum Mutat
; 37(5): 417-26, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26888055