Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
Medicare-funded cancer genetic tests: a note of caution.
Med J Aust
; 209(5): 193-196, 2018 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30157409
12.
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Blood Adv
; 7(20): 6092-6107, 2023 10 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37406166
13.
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Genome Med
; 15(1): 74, 2023 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37723522
14.
Corrigendum to Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: An Australian perspective [American Journal of Preventive Cardiology 6 (2021) 100151].
Am J Prev Cardiol
; 9: 100200, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35399741
15.
Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implications.
Clin Endocrinol (Oxf)
; 85(3): 495-7, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27177819
16.
Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective.
Am J Prev Cardiol
; 6: 100151, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34327493
17.
Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.
Leukemia
; 35(11): 3245-3256, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33850299
18.
Young-onset colorectal cancer is associated with a personal history of type 2 diabetes.
Asia Pac J Clin Oncol
; 17(1): 131-138, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32885561
19.
Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: case report.
Liver Transpl
; 16(4): 470-3, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20373457
20.
Aberrant Splicing of SDHC in Families With Unexplained Succinate Dehydrogenase-Deficient Paragangliomas.
J Endocr Soc
; 4(12): bvaa071, 2020 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33195952