Gretchen MacCarrick
Overview
Explore the profile of Gretchen MacCarrick including associated specialties, affiliations and a list of published articles.
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32
Citations
376
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Recent Articles
11.
Roulston S, Raraigh K, Malinowski A, MacCarrick G
J Genet Couns
. 2023 Jul;
33(3):506-514.
PMID: 37421222
The theoretical benefits of collaboration between patient support groups and genetic counselors have been discussed in the literature. However, no study has quantified the rate or ways that support groups...
12.
Ilonzo N, Taubenfeld E, Yousif M, Henoud C, Howitt J, Wohlauer M, et al.
Semin Vasc Surg
. 2022 May;
35(1):88-99.
PMID: 35501046
Although the topics of surgical techniques and medical therapies have been widely studied in aortic dissection (AD), studies examining the short- and long-term impact of this event on mental health...
13.
Fry D, Groepper D, MacCarrick G, Demo E, Thomas M, Wilkes M, et al.
Am J Med Genet A
. 2022 Apr;
188(7):2237-2241.
PMID: 35426477
Loeys-Dietz syndrome (LDS) is a connective tissue disorder that commonly results in a dilated aorta, aneurysms, joint laxity, craniosynostosis, and soft skin that bruises easily. Neurodevelopmental abnormalities are uncommon in...
14.
Alawneh R, Johnson A, Hoover-Fong J, Jackson E, Steinberg J, MacCarrick G
Cleft Palate Craniofac J
. 2022 Mar;
60(8):1021-1028.
PMID: 35354337
Saethre-Chotzen syndrome (SCS) is a known craniosynostosis syndrome with a variable presentation of craniofacial and somatic involvement. Congenital coronal craniosynostosis is most commonly observed in SCS; however, progressive postnatal craniosynostosis...
15.
Sowho M, Schneider H, Jun J, MacCarrick G, Schwartz A, Pham L, et al.
Am J Physiol Heart Circ Physiol
. 2022 Mar;
322(5):H742-H748.
PMID: 35275761
Aortic dissection and rupture are the major causes of premature death in persons with Marfan syndrome (MFS), a rare genetic disorder featuring cardiovascular, skeletal, and ocular impairments. We and others...
16.
Sowho M, Jun J, Sgambati F, Potocki M, Schneider H, Smith P, et al.
J Clin Sleep Med
. 2022 Feb;
18(6):1583-1592.
PMID: 35152942
Study Objectives: Patients with Marfan syndrome (MFS) have a high risk for aortic aneurysms. They are also susceptible to sleep-disordered breathing that may expose them to highly negative intrathoracic pressures...
17.
Guerrerio A, Mateja A, Rasooly M, Levin S, Magnani A, Dempsey C, et al.
Genet Med
. 2021 Dec;
24(2):419-429.
PMID: 34906513
Purpose: Loeys-Dietz syndrome (LDS) is a connective tissue disorder affecting multiple organ systems, including bone. Methods: We defined the bone phenotype and clinical predictors of low bone density and fracture...
18.
Collaco J, Raraigh K, Betz J, Aksit M, Blau N, Brown J, et al.
Genet Med
. 2021 Dec;
24(1):87-99.
PMID: 34906463
Purpose: The growing size of public variant repositories prompted us to test the accuracy of pathogenicity prediction of DNA variants using population data alone. Methods: Under the a priori assumption...
19.
Sowho M, MacCarrick G, Dietz H, Jun J, Schwartz A, Neptune E
BMJ Open Respir Res
. 2021 Nov;
8(1).
PMID: 34782328
Background: Marfan syndrome (MFS) is a connective tissue disorder characterised by complex aortic pathology and a high prevalence of obstructive sleep apnoea (OSA). OSA produces intrathoracic transmural stresses that may...
20.
Ziegler S, MacCarrick G, Dietz H
Am J Med Genet A
. 2021 Aug;
185(11):3340-3349.
PMID: 34428348
Tremendous progress has been made in understanding the etiology, pathogenesis, and treatment of inherited vascular connective tissue disorders. While new insights regarding disease etiology and pathogenesis have informed patient counseling...