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Ulrike Schwarze
University of Washington
53Publications
30H-index
5,391Citations
Publications 53
Newest
Published on Jul 1, 2019in European Journal of Medical Genetics 2.02
June Duong (Queen's University), Andrea Rideout (Dal: Dalhousie University)+ 5 AuthorsAnthony Vandersteen6
Estimated H-index: 6
(Dal: Dalhousie University)
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...
Published on Jul 1, 2018in Journal of Bone and Mineral Research 5.71
Tim Cundy49
Estimated H-index: 49
,
Michael Dray7
Estimated H-index: 7
+ 15 AuthorsAideen McInerny-Leo19
Estimated H-index: 19
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...
Published on May 1, 2017in Annals of Vascular Surgery 1.18
Daiva Nevidomskyte2
Estimated H-index: 2
(UW: University of Washington),
Sherene Shalhub13
Estimated H-index: 13
(UW: University of Washington)
+ 4 AuthorsBenjamin W. Starnes25
Estimated H-index: 25
(UW: University of Washington)
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 ...
Published on Jan 1, 2016in Genetics in Medicine 8.68
Melanie Pepin23
Estimated H-index: 23
(UW: University of Washington),
Mitzi L. Murray11
Estimated H-index: 11
(UW: University of Washington)
+ 3 AuthorsPeter H. Byers69
Estimated H-index: 69
(UW: University of Washington)
The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories
Published on Nov 1, 2015in American Journal of Medical Genetics Part A 2.20
Kelly L. Jones1
Estimated H-index: 1
(Seattle Children's),
Ulrike Schwarze30
Estimated H-index: 30
(UW: University of Washington)
+ 2 AuthorsHeather C. Mefford46
Estimated H-index: 46
(Seattle Children's)
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...
Published on Sep 1, 2015in American Journal of Human Genetics 9.92
Björn Fischer-Zirnsak6
Estimated H-index: 6
(Charité),
Nathalie Escande-Beillard4
Estimated H-index: 4
(Agency for Science, Technology and Research)
+ 31 AuthorsAbigail Loh2
Estimated H-index: 2
(Agency for Science, Technology and Research)
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...
Published on Jul 1, 2015in Human Mutation 4.45
Jennifer Schleit11
Estimated H-index: 11
(UW: University of Washington),
Samuel S. Bailey2
Estimated H-index: 2
(UW: University of Washington)
+ 4 AuthorsPeter H. Byers69
Estimated H-index: 69
(UW: University of Washington)
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...
Published on Dec 1, 2014in Genetics in Medicine 8.68
Melanie Pepin23
Estimated H-index: 23
(UW: University of Washington),
Ulrike Schwarze30
Estimated H-index: 30
(UW: University of Washington)
+ 3 AuthorsPeter H. Byers69
Estimated H-index: 69
(UW: University of Washington)
Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)
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