Detalhe da pesquisa
1.
Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.
PLoS Genet;
18(6): e1010236, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35737725
2.
A descriptive investigation of clinical practice models used by cardiovascular genetic counselors in North America.
J Genet Couns;
32(2): 362-375, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36222363
3.
Genetic counselors and congenital heart disease: Clinical roles, genetic testing practices, and perceived genetic testing utility.
J Genet Couns;
2023 Oct 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37872860
4.
Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.
PLoS Genet;
16(5): e1008639, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32453731
5.
The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results.
Am J Hum Genet;
104(4): 578-595, 2019 04 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30951675
6.
Management of amended variant classification laboratory reports by genetic counselors in the United States and Canada: An exploratory study.
J Genet Couns;
31(2): 479-488, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34570930
7.
Assessing genetic counselors' graduate school education and training in congenital heart defects.
J Genet Couns;
31(3): 735-745, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34877755
8.
Genetic counseling for congenital heart disease - Practice resource of the National Society of Genetic Counselors.
J Genet Couns;
31(1): 9-33, 2022 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34510635
9.
Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors.
Pediatr Cardiol;
40(8): 1679-1687, 2019 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31535183
10.
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.
Hum Mol Genet;
25(11): 2331-2341, 2016 06 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26965164
11.
A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy.
Am J Med Genet A;
173(11): 2995-3002, 2017 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28941062
12.
Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.
Am J Med Genet A;
173(8): 2176-2188, 2017 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28653806
13.
At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease.
J Genet Couns;
26(4): 669-688, 2017 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28283918
14.
Abnormal Longitudinal Growth of the Aorta in Children with Familial Bicuspid Aortic Valve.
Pediatr Cardiol;
38(8): 1709-1715, 2017 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28948327
15.
Understanding of informed consent by parents of children enrolled in a genetic biobank.
Genet Med;
16(2): 141-8, 2014 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23807615
16.
Genetic knowledge and attitudes of parents of children with congenital heart defects.
Am J Med Genet A;
164A(12): 3069-75, 2014 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25256359
17.
Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve.
Pediatr Res;
76(2): 211-6, 2014 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24796370
18.
Erratum to: At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease.
J Genet Couns;
26(4): 689, 2017 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28470398
19.
Comparison of willingness and preference for genetic counseling via telemedicine: before vs. during the COVID-19 pandemic.
J Community Genet;
13(4): 449-458, 2022 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35794442
20.
Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects.
Birth Defects Res A Clin Mol Teratol;
91(3): 162-8, 2011 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21290564