Match!
Ulrike Schwarze
University of Washington
50Publications
30H-index
5,208Citations
Publications 50
Newest
#1June Duong (Queen's University)H-Index: 1
#2Andrea Rideout (Dal: Dalhousie University)H-Index: 1
Last.Anthony Vandersteen (Dal: Dalhousie University)H-Index: 6
view all 8 authors...
Abstract The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT) with joint hypermobility, skin hyperextensibility and tissue fragility, which were recently re-classified (2017 International Classification). Most patients (>90%) with Classical Ehlers-Danlos syndrome (cEDS) have a mutation in the COL5A1 or COL5A2 genes encoding type V procollagen. A small number of patients with the p.Arg312Cys mutation in COL1A1 have been reported with overlapping features of both c...
1 CitationsSource
#1Ulrike Schwarze (UW: University of Washington)H-Index: 30
#2Tim Cundy (University of Auckland)H-Index: 48
Last.Peter H. Byers (UW: University of Washington)H-Index: 70
view all 5 authors...
Source
#1Tim CundyH-Index: 48
#2Michael DrayH-Index: 7
Last.Peter H. ByersH-Index: 70
view all 18 authors...
Source
#1Tim CundyH-Index: 48
#2Michael DrayH-Index: 7
Last.Peter H. ByersH-Index: 70
view all 18 authors...
Osteogenesis imperfecta (OI) is a genetic bone disorder characterized by fractures, low bone mass, and skeletal fragility. It most commonly arises from dominantly inherited mutations in the genes COL1A1 and COL1A2 that encode the chains of type I collagen. A number of recent reports have suggested that mutations affecting the carboxyl-terminal propeptide cleavage site in the products of either COL1A1 or COL1A2 give rise to a form of OI characterized by unusually dense bones. We have assembled cl...
6 CitationsSource
#1Daiva Nevidomskyte (UW: University of Washington)H-Index: 2
#2Sherene Shalhub (UW: University of Washington)H-Index: 13
Last.Benjamin W. Starnes (UW: University of Washington)H-Index: 26
view all 7 authors...
True aneurysms of the internal mammary artery are rare and have been described in association with vasculitis or connective tissue disorders. Herein, we describe 2 cases of familial internal mammary artery aneurysms (IMAs) in 2 sisters with SMAD3 mutation. The older sister presented at the age of 54 years with an incidental diagnosis of a multilobed right IMA and the younger sister presented several years earlier with a ruptured left IMA aneurysm at the age of 49 years. Both sisters had Debakey ...
4 CitationsSource
#1Melanie G. Pepin (UW: University of Washington)H-Index: 23
#2Mitzi L. Murray (UW: University of Washington)H-Index: 11
Last.Peter H. Byers (UW: University of Washington)H-Index: 70
view all 6 authors...
The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories
31 CitationsSource
#1Kelly L. Jones (Seattle Children's)H-Index: 1
#2Ulrike Schwarze (UW: University of Washington)H-Index: 30
Last.Heather C. Mefford (Seattle Children's)H-Index: 48
view all 5 authors...
Linkeropathies are a group of syndromes characterized by short stature, radio-ulnar synostosis, decreased bone density, congenital contractures and dislocations, joint laxity, broad digits, brachycephaly, small mouth, prominent eyes, short or webbed neck, congenital heart defects and mild developmental delay. Linkeropathies are due to enzymatic defects in the synthesis of the common linker region that joins the core proteins to their glycosaminoglycan (GAG) side chains. The enzyme glucuronyltran...
23 CitationsSource
#1Björn Fischer-Zirnsak (Charité)H-Index: 6
#2Nathalie Escande-Beillard (Agency for Science, Technology and Research)H-Index: 4
Last.Uwe Kornak (Charité)H-Index: 34
view all 34 authors...
Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrroline-5-carboxylate reductase 1 and pyrroline-5-carboxylate synthase (P5CS), respectively, which both operate in the mitochondrial proline cycle. We report here on eight unrelated individuals born to non-consanguineous families clinically diagnosed with DBS or wrinkly skin syndrome. We fou...
31 CitationsSource
#1Jennifer Schleit (UW: University of Washington)H-Index: 12
#2Samuel S. Bailey (UW: University of Washington)H-Index: 2
Last.Peter H. Byers (UW: University of Washington)H-Index: 70
view all 7 authors...
Approximately 10%–20% of germline pathogenic variants alter mRNA splicing, with phenotypes often dependent on the stability of the mRNA produced by the mutant allele. To better understand the relationships between genotype, mRNA splicing, and phenotype, we examined clinical and molecular data from 243 probands with osteogenesis imperfecta (OI) representing 145 unique splicing variants within the type I procollagen gene, COL1A1. All individuals with IVSX-1G>A mutations had OI type I because the s...
7 CitationsSource
#1Melanie G. Pepin (UW: University of Washington)H-Index: 23
#2Ulrike Schwarze (UW: University of Washington)H-Index: 30
Last.Peter H. Byers (UW: University of Washington)H-Index: 70
view all 6 authors...
Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)
76 CitationsSource
12345