Detalhe da pesquisa
1.
Evaluating the resource implications of different service delivery models for offering additional genomic findings.
Genet Med
; 23(4): 606-613, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33214711
2.
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Genet Med
; 23(1): 183-191, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32939031
3.
Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Haematologica
; 106(1): 64-73, 2021 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32054657
4.
Social media usage in family communication about genetic information: 'I no longer speak with my sister but she needed to know'.
J Genet Couns
; 30(1): 180-190, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32648349
5.
Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project.
Genet Med
; 22(5): 937-944, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31974413
6.
Erratum to: Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Haematologica
; 109(4): 1311, 2024 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38562077
7.
A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system.
J Genet Couns
; 28(2): 388-397, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30776170
8.
Genetic Counseling in the Era of Genomics: What's all the Fuss about?
J Genet Couns
; 27(5): 1010-1021, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29368275
9.
Evaluation of a two-step model of opportunistic genomic screening.
Eur J Hum Genet
; 32(6): 656-664, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38528054
10.
Secondary use of genomic data: patients' decisions at point of testing and perspectives to inform international data sharing.
Eur J Hum Genet
; 32(6): 717-724, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38528053
11.
Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol.
BMJ Open
; 13(6): e072999, 2023 06 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37270192
12.
"It's something I've committed to longer term": The impact of an immersion program for physicians on adoption of genomic medicine.
Patient Educ Couns
; 104(3): 480-488, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33268232
13.
Making community voices heard in a research-health service alliance, the evolving role of the Community Advisory Group: a case study from the members' perspective.
Res Involv Engagem
; 7(1): 84, 2021 Nov 27.
Artigo
Inglês
| MEDLINE | ID: mdl-34838131
14.
Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy.
J Am Heart Assoc
; 9(2): e013346, 2020 01 21.
Artigo
Inglês
| MEDLINE | ID: mdl-31931689
15.
Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.
Eur J Hum Genet
; 28(5): 587-596, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31827275
16.
Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study.
Clin Cancer Res
; 12(11 Pt 1): 3389-93, 2006 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-16740762
17.
A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort.
BMJ Paediatr Open
; 1(1): e000119, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29637142
18.
Correction: Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.
Eur J Hum Genet
; 29(2): 363, 2021 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-33168987
19.
Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1).
Mol Genet Metab
; 99(3): 329, 2010 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-20036594
20.
Ownership of uncertainty: healthcare professionals counseling and treating women from hereditary breast and ovarian cancer families who receive an inconclusive BRCA1/2 genetic test result.
Genet Test Mol Biomarkers
; 15(4): 243-50, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21254913