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Melanie G. Pepin
University of Washington
Osteogenesis imperfectaEhlers–Danlos syndromeMutationGeneticsMedicine
46Publications
23H-index
2,677Citations
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Publications 45
Newest
#1Sherene Shalhub (UW: University of Washington)H-Index: 13
#2Peter H. Byers (UW: University of Washington)H-Index: 70
Last. Karen Woo (UCLA: University of California, Los Angeles)H-Index: 10
view all 24 authors...
Abstract Objective Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder and 1 of 13 types of EDS. The syndrome results in aortic and arterial aneurysms and dissections at a young age. Diagnosis is confirmed with molecular testing via skin biopsy or genetic testing for COL3A1 pathogenic variants. We describe a multi-institutional experience in the diagnosis of vEDS from 2000 to 2015. Methods This is a multi-institutional cross-sectional retrospective study of individuals with vEDS. The insti...
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#1Sherene Shalhub (UW: University of Washington)H-Index: 13
#2Peter H. Byers (UW: University of Washington)H-Index: 70
Last. Karen Woo (UCLA: University of California, Los Angeles)H-Index: 10
view all 24 authors...
Abstract Objective Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder owing to pathogenic variants in COL3A1 that lead to impaired type III collagen production. We aim to describe the contemporary multi-institutional experience of aortic and arterial pathology in individuals with vEDS, to evaluate disease patterns and refine management recommendations. Methods This cross-sectional, retrospective study of individuals with genetically confirmed vEDS was conducted between 2...
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#2Erin CarterH-Index: 7
Last. Cathleen L Raggio (Boston Children's Hospital)
view all 21 authors...
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#1Mahim Jain (BCM: Baylor College of Medicine)H-Index: 16
#2Allison Tam (BCM: Baylor College of Medicine)H-Index: 2
Last. Sandesh C.S. Nagamani (BCM: Baylor College of Medicine)H-Index: 25
view all 19 authors...
Osteogenesis imperfecta (OI) predisposes people to recurrent fractures, bone deformities, and short stature. There is a lack of large-scale systematic studies that have investigated growth parameters in OI. Using data from the Linked Clinical Research Centers, we compared height, growth velocity, weight, and body mass index (BMI) in 552 individuals with OI. Height, weight, and BMI were plotted on Centers for Disease Control and Prevention normative curves. In children, the median z-scores for he...
2 CitationsSource
#1Kelli L. Hicks (UW: University of Washington)H-Index: 1
#2Peter H. Byers (UW: University of Washington)H-Index: 70
Last. Sherene Shalhub (UW: University of Washington)H-Index: 13
view all 5 authors...
Abstract Objective The contemporary practice of testing for genetically triggered aortic and arterial aneurysms and dissections is not well described. This study aimed to describe this practice at a tertiary care academic center and to ascertain the yield of testing in establishing the diagnosis in patients referred on the basis of clinical suspicion. Methods This is a retrospective cohort study of patients referred for vascular genetic testing at an academic medical center between 2010 and 2015...
3 CitationsSource
#1Rachel B. Keller (UW: University of Washington)H-Index: 3
#2Thao Tran (UW: University of Washington)H-Index: 13
Last. Peter H. Byers (UW: University of Washington)H-Index: 70
view all 9 authors...
Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively
9 CitationsSource
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#1Laura VandervoreH-Index: 3
#2Katrien StouffsH-Index: 15
Last. Anna C. JansenH-Index: 18
view all 15 authors...
Background Collagens are one of the major constituents of the pial membrane, which plays a crucial role in neuronal migration and cortical lamination during brain development. Type III procollagen, the chains of which are encoded by COL3A1 , is the ligand of the G protein-coupled receptor 56 (GPR56), also known as adhesion G protein-coupled receptor G1. Bi-allelic mutations in GPR56 give rise to cobblestone-like malformation, white matter changes and cerebellar dysplasia. This report shows that ...
11 CitationsSource
#1Fransiska Malfait (Ghent University Hospital)H-Index: 35
#2Clair Ann Francomano (Johns Hopkins University)H-Index: 49
Last. Brad T. Tinkle (Boston Children's Hospital)H-Index: 15
view all 45 authors...
The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying ...
219 CitationsSource
#1Peter H. Byers (UW: University of Washington)H-Index: 70
#2John W. BelmontH-Index: 65
Last. Nigel WheeldonH-Index: 20
view all 11 authors...
Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus. The frequency is estimated as 1/50,000–1/200,000 and results from pathogenic variants in COL3A1, which encodes the chains of type III procollagen, a major protein in vessel walls and hollow organs. Initial diagnosis depends on the recognitions of clinical features, including family history. Management is complex and r...
43 CitationsSource
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