Morgan L McManus
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Explore the profile of Morgan L McManus including associated specialties, affiliations and a list of published articles.
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4
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4
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Recent Articles
1.
Meester J, Hebert A, Bastiaansen M, Rabaut L, Bastianen J, Boeckx N, et al.
NPJ Genom Med
. 2024 Mar;
9(1):22.
PMID: 38531898
Pathogenic loss-of-function variants in BGN, an X-linked gene encoding biglycan, are associated with Meester-Loeys syndrome (MRLS), a thoracic aortic aneurysm/dissection syndrome. Since the initial publication of five probands in 2017,...
2.
Strong A, Qu H, Cullina S, McManus M, Zackai E, Glessner J, et al.
Am J Med Genet A
. 2023 May;
191(8):2156-2163.
PMID: 37227088
Joubert syndrome (JBTS) is a Mendelian disorder of the primary cilium defined by the clinical triad of hypotonia, developmental delay, and a distinct cerebellar malformation called the molar tooth sign....
3.
Campbell I, Karavite D, McManus M, Cusick F, Junod D, Sheppard S, et al.
J Am Med Inform Assoc
. 2023 Apr;
30(7):1274-1283.
PMID: 37080563
Objective: We sought to develop and evaluate an electronic health record (EHR) genetic testing tracking system to address the barriers and limitations of existing spreadsheet-based workarounds. Materials And Methods: We...
4.
Campbell I, Crowley T, Keena B, Donoghue S, McManus M, Zackai E
Am J Med Genet A
. 2022 Jul;
188(12):3416-3422.
PMID: 35906847
Telemedicine has long been considered as an attractive alternative methodology in clinical genetics to improve patient access and convenience. Given the importance of the dysmorphology physical examination and anthropometric measurement...