Detalhe da pesquisa
1.
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.
Am J Hum Genet
; 110(11): 1950-1958, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883979
2.
The genetic architecture of pediatric cardiomyopathy.
Am J Hum Genet
; 109(2): 282-298, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35026164
3.
A human importin-ß-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
Am J Hum Genet
; 108(6): 1115-1125, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010605
4.
Preparedness and training of genetic counselors practicing in inpatient settings.
J Genet Couns
; 2023 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37528675
5.
A clinical scoring system for early onset (neonatal) Marfan syndrome.
Genet Med
; 24(7): 1503-1511, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35420547
6.
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
7.
The Effect of Blood Flow Restriction Training on Muscle Atrophy Following Meniscal Repair or Chondral Restoration Surgery in Active Duty Military: A Randomized Controlled Trial.
J Sport Rehabil
; 31(1): 77-84, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34686624
8.
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
9.
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
10.
A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis.
J Vasc Surg
; 71(1): 149-157, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353273
11.
The Cost-Effectiveness of Cognitive Behavioral Therapy Versus Second-Generation Antidepressants for Initial Treatment of Major Depressive Disorder in the United States: A Decision Analytic Model.
Ann Intern Med
; 171(11): 785-795, 2019 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31658472
12.
A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.
J Vasc Surg
; 70(5): 1543-1554, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31126764
13.
Chronic Methylphenidate Alters Tonic and Phasic Glutamate Signaling in the Frontal Cortex of a Freely-Moving Rat Model of ADHD.
Neurochem Res
; 44(1): 89-101, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29397534
14.
Pediatric Cardiomyopathies.
Circ Res
; 121(7): 855-873, 2017 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28912187
15.
Management of behavioral and psychological symptoms in people with Alzheimer's disease: an international Delphi consensus.
Int Psychogeriatr
; 31(1): 83-90, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30068400
16.
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
17.
Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy.
Hum Mutat
; 39(12): 2083-2096, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30260051
18.
Hypertrophic Cardiomyopathy Genotype Prediction Models in a Pediatric Population.
Pediatr Cardiol
; 39(4): 709-717, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29362845
19.
Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest.
Am J Med Genet A
; 167A(9): 2197-200, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26018045
20.
Provision of cardiovascular genetic counseling services: current practice and future directions.
J Genet Couns
; 23(6): 976-83, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24788056