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.
Myelodysplastic syndrome and multiple solid tumours in an individual with compound heterozygous deleterious FANCM variants: A case report and review of the literature.
Br J Haematol
; 203(3): 481-484, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37608704
3.
Quantifying family dissemination and identifying barriers to communication of risk information in Australian BRCA families.
Genet Med
; 19(12): 1323-1331, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28492536
4.
Breast and ovarian cancer referrals to the ACT Genetic Service: are we meeting guidelines?
Intern Med J
; 47(3): 311-317, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28019080
5.
A Relational Approach to Genetic Counseling for Hereditary Breast and Ovarian Cancer.
J Genet Couns
; 26(2): 283-299, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27761849
6.
Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity.
Mol Carcinog
; 54(7): 513-22, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24302565
7.
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
medRxiv
; 2023 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36909643
8.
Are videoconferenced consultations as effective as face-to-face consultations for hereditary breast and ovarian cancer genetic counseling?
Genet Med
; 13(11): 933-41, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21799430
9.
Women's experience of telehealth cancer genetic counseling.
J Genet Couns
; 19(5): 463-72, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20411313
10.
Aligning intuition and theory: enhancing the replicability of behaviour change interventions in cancer genetics.
Implement Sci Commun
; 1: 90, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33073243
11.
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Nat Genet
; 49(3): 457-464, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28092684
12.
Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.
PLoS One
; 9(1): e86836, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24489791
13.
Neuropsychological functioning in children with early-treated phenylketonuria: impact of white matter abnormalities.
Dev Med Child Neurol
; 46(4): 230-8, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15077700