Detalhe da pesquisa
1.
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
Hum Mutat
; 43(10): 1377-1395, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35730652
2.
Retrospective comparison of parent-reported genetics knowledge, empowerment, and familial uptake of cardiac screening between parents who received genetic counseling by a certified genetic counselor and those who did not: A single US academic medical center study.
J Genet Couns
; 31(4): 965-975, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35261109
3.
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
4.
Investigation of de novo variation in pediatric cardiomyopathy.
Am J Med Genet C Semin Med Genet
; 184(1): 116-123, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31912959
5.
A Comprehensive Clinical Genetics Approach to Critical Congenital Heart Disease in Infancy.
J Pediatr
; 227: 231-238.e14, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32717230
6.
Medically actionable comorbidities in adults with Costello syndrome.
Am J Med Genet A
; 182(1): 130-136, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31680412
7.
Left ventricular outflow tract obstruction: Uptake of familial cardiac screening and parental knowledge from a single tertiary care center.
J Genet Couns
; 28(4): 779-789, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30907979
8.
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
9.
Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.
Am J Med Genet A
; 170A(5): 1288-94, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26854089
10.
Clinical Stratification of Pediatric Patients with Idiopathic Thoracic Aortic Aneurysm.
J Pediatr
; 167(1): 131-7.e1-5, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25812776
11.
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
12.
Genetic Testing in Pediatric Left Ventricular Noncompaction.
Circ Cardiovasc Genet
; 10(6)2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29212898
13.
Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity.
J Cardiovasc Transl Res
; 10(4): 423-432, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28550590