Detalhe da pesquisa
1.
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
J Transl Med
; 21(1): 282, 2023 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37101184
2.
"Out of the blue": A qualitative study exploring the experiences of women and next of kin receiving unexpected results from BRA-STRAP research gene panel testing.
J Genet Couns
; 2023 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37864663
3.
Survey of germline variants in cancer-associated genes in young adults with colorectal cancer.
Genes Chromosomes Cancer
; 61(2): 105-113, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34761457
4.
RNF43 pathogenic Germline variant in a family with colorectal cancer.
Clin Genet
; 101(1): 122-126, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34541672
5.
Recurrent pneumothorax in a case of tenascin-X deficient Ehlers-Danlos syndrome: Broadening the phenotypic spectrum.
Am J Med Genet A
; 188(5): 1583-1588, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35128805
6.
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.
J Med Genet
; 58(12): 853-858, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33168572
7.
Integrated guidance to enhance the care of children and adolescents with familial hypercholesterolaemia: Practical advice for the community clinician.
J Paediatr Child Health
; 58(8): 1297-1312, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35837752
8.
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.
Lancet Oncol
; 22(11): 1618-1631, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34678156
9.
Germline PALB2 Variants and PARP Inhibitors in Endometrial Cancer.
J Natl Compr Canc Netw
; 19(11): 1212-1217, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34781271
10.
Essentials of a new clinical practice guidance on familial hypercholesterolaemia for physicians.
Intern Med J
; 51(5): 769-779, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34047032
11.
Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia.
Heart Lung Circ
; 30(3): 324-349, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33309206
12.
Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.
BMC Med Genet
; 21(1): 35, 2020 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32066420
13.
CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk.
Am J Med Genet A
; 182(7): 1780-1784, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32302040
14.
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Hum Mol Genet
; 25(11): 2256-2268, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27008870
15.
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.
Blood
; 127(8): 1017-23, 2016 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26712909
16.
An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res Treat
; 157(2): 319-327, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27117159
17.
A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability.
Br J Haematol
; 190(5): e297-e301, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32488879
18.
A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia.
Haematologica
; 104(7): e318-e321, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30923096
19.
Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.
Acta Diabetol
; 61(2): 181-188, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37812285
20.
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum.
JCO Precis Oncol
; 8: e2300453, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38412388