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U. Schwarze · SciRah

Researcher profile · Semantic Scholar

U. Schwarze

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U. Schwarze — researcher profile on SciRah

h-index: 33
Works: 61
Citations: 8,082

Most-cited papers

Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
Bart Loeys, U. Schwarze, T. Holm, B. Callewaert +17 more
20061,345 citations Open access
Semantic Scholar
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
B. Loeys, U. Schwarze, T. Holm, B. Callewaert +17 more
2006New England Journal of Medicine789 citations Open access
Semantic Scholar
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
Joan C. Marini, A. Forlino, Wayne A. Cabral, Aileen M. Barnes +23 more
2007Human Mutation711 citations Open access
Semantic Scholar
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
M. Pepin, U. Schwarze, A. Superti-Furga, P. Byers
2000New England Journal of Medicine601 citations Open access
Semantic Scholar
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.
R. Morello, T. Bertin, Yuqing Chen, J. Hicks +16 more
2006Cell512 citations Open access
Semantic Scholar
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.
A. Colige, A. Sieron, Shi-Wu Li, U. Schwarze +10 more
1999American Journal of Human Genetics357 citations Open access
Semantic Scholar
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
H. Christiansen, U. Schwarze, Shawna M. Pyott, A. Alswaid +6 more
2010American Journal of Human Genetics328 citations Open access
Semantic Scholar
Gene Targeting in Stem Cells from Individuals with Osteogenesis Imperfecta
J. R. Chamberlain, U. Schwarze, Pei-Rong Wang, R. Hirata +7 more
2004Science295 citations
Semantic Scholar
Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)
M. Pepin, U. Schwarze, K. Rice, Ming-Dong Liu +2 more
2014Genetics in Medicine266 citations Open access
Semantic Scholar
CRTAP AND LEPRE1 MUTATIONS IN RECESSIVE OSTEOGENESIS IMPERFECTA
Dustin Baldridge, U. Schwarze, R. Morello, J. Lennington +21 more
2008Human Mutation217 citations Open access
Semantic Scholar
Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.
U. Schwarze, W. I. Schievink, Elizabeth M. Petty, Michael R. Jaff +4 more
2001American Journal of Human Genetics172 citations Open access
Semantic Scholar
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
U. Schwarze, R. Hata, V. McKusick, H. Shinkai +3 more
2004American Journal of Human Genetics165 citations Open access
Semantic Scholar
Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect
A. Winterpacht, Matthias Hilbert, U. Schwarze, S. Mundlos +2 more
1993Nature Genetics162 citations
Semantic Scholar
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
U. Schwarze, T. Cundy, Shawna M. Pyott, H. Christiansen +34 more
2013Human Molecular Genetics139 citations Open access
Semantic Scholar
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.
Shawna M. Pyott, U. Schwarze, H. Christiansen, M. Pepin +13 more
2011Human Molecular Genetics139 citations Open access
Semantic Scholar
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships
D. Bodian, T. Chan, A. Poon, U. Schwarze +4 more
2008Human Molecular Genetics126 citations Open access
Semantic Scholar
Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).
U. Schwarze, Mary Atkinson, G. Hoffman, D. Greenspan +1 more
2000American Journal of Human Genetics126 citations Open access
Semantic Scholar
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.
P. Byers, M. Duvic, Mary Atkinson, M. Robinow +8 more
1997American journal of medical genetics116 citations
Semantic Scholar
COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy
Dru F. Leistritz, M. Pepin, U. Schwarze, P. Byers
2011Genetics in Medicine115 citations Open access
Semantic Scholar
Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I.
K. Takahara, U. Schwarze, Y. Imamura, G. Hoffman +4 more
2002American Journal of Human Genetics112 citations Open access
Semantic Scholar
Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis.
L. Smith, U. Schwarze, J. Goldstein, P. Byers
1997Journal of Investigative Dermatology108 citations Open access
Semantic Scholar
Stability related bias in residues replacing glycines within the collagen triple helix (Gly‐Xaa‐Yaa) in inherited connective tissue disorders
Anton V. Persikov, Rian J. Pillitteri, Priyal Amin, U. Schwarze +2 more
2004Human Mutation106 citations Open access
Semantic Scholar
Normal collagen and bone production by gene-targeted human osteogenesis imperfecta iPSCs.
D. Deyle, Iram Khan, Gaoying Ren, Pei-Rong Wang +3 more
2012Molecular Therapy85 citations Open access
Semantic Scholar
Gene targeting of mutant COL1A2 alleles in mesenchymal stem cells from individuals with osteogenesis imperfecta.
J. R. Chamberlain, D. Deyle, U. Schwarze, Peirong Wang +4 more
2008Molecular Therapy81 citations Open access
Semantic Scholar
Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
Shawna M. Pyott, M. Pepin, U. Schwarze, K. Yang +2 more
2011Genetics in Medicine77 citations Open access
Semantic Scholar
Spontaneous direct carotid-cavernous fistula in Ehlers-Danlos syndrome type IV: two case reports and a review of the literature.
H. Chuman, J. Trobe, E. Petty, U. Schwarze +3 more
2002Journal of neuro-ophthalmology75 citations Open access
Semantic Scholar
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
B. Fischer-Zirnsak, N. Escande-Beillard, J. Ganesh, Yu Tan +30 more
2015American Journal of Human Genetics74 citations Open access
Semantic Scholar
The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories
M. Pepin, Mitzi L. Murray, Samuel S. Bailey, Dru Leistritz-Kessler +2 more
2015Genetics in Medicine69 citations Open access
Semantic Scholar
Molecular Mechanisms of Classical Ehlers-Danlos Syndrome
Anna L. Mitchell, U. Schwarze, J. F. Jennings, Peter H. Byers
2009Human Mutation58 citations Open access
Semantic Scholar
Defective C-propeptides of the Proα2(I) Chain of Type I Procollagen Impede Molecular Assembly and Result in Osteogenesis Imperfecta*
James M. Pace, M. Wiese, A. S. Drenguis, N. Kuznetsova +6 more
2008Journal of Biological Chemistry58 citations Open access
Semantic Scholar
A Homozygous B3GAT3 Mutation Causes a Severe Syndrome with Multiple Fractures, Extending the Number of Linkeropathy Syndromes
Kelly L. Jones, U. Schwarze, Margaret P. Adam, Peter H. Byers +1 more
2015American Journal of Medical Genetics. Part A50 citations Open access
Semantic Scholar
A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proα1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases
James M. Pace, D. Chitayat, Mary Atkinson, William R. Wilcox +2 more
2002Journal of Medical Genetics45 citations Open access
Semantic Scholar
Neurological presentation of Ehlers–Danlos syndrome type IV in a family with parental mosaicism
S. Palmeri, F. Mari, I. Meloni, A. Malandrini +6 more
2003Clinical Genetics35 citations
Semantic Scholar
Abnormal Bone Collagen Cross‐Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound Heterozygous PLOD2 Mutations
C. Gistelinck, MaryAnn Weis, J. Rai, U. Schwarze +4 more
2021JBMR Plus31 citations Open access
Semantic Scholar
Multiple Vascular and Bowel Ruptures in an Adolescent Male with Sporadic Ehlers-Danlos Syndrome Type IV
M. Collins, U. Schwarze, D. Carpentieri, P. Kaplan +3 more
1999Pediatric and Developmental Pathology31 citations
Semantic Scholar
Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives.
D. Gilchrist, U. Schwarze, K. Shields, L. MacLaren +2 more
1999American journal of medical genetics28 citations
Semantic Scholar
Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype
T. Cundy, M. Dray, J. Delahunt, J. Hald +14 more
2018Journal of Bone and Mineral Research27 citations Open access
Semantic Scholar
Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen
J. Schleit, Samuel S. Bailey, T. Tran, Diana Chen +3 more
2015Human Mutation27 citations
Semantic Scholar
Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations
M. Pepin, U. Schwarze, Virendra Singh, M. Romana +2 more
2013Molecular Genetics & Genomic Medicine26 citations Open access
Semantic Scholar
Successful endovascular repair of acute type B aortic dissection in undiagnosed Ehlers-Danlos syndrome type IV.
Z. Khalique, Oliver Lyons, R. Clough, R. Bell +4 more
2009European Journal of Vascular and Endovascular Surgery24 citations Open access
Semantic Scholar
Rapid aneurysmal degeneration of a Stanford type B aortic dissection in a patient with Loeys-Dietz syndrome.
Richard S. Lee, S. Fazel, U. Schwarze, D. Fleischmann +4 more
2007Journal of Thoracic and Cardiovascular Surgery22 citations Open access
Semantic Scholar
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Christin S. Adamo, A. Beyens, A. Schiavinato, D. Keene +36 more
2022American Journal of Human Genetics20 citations Open access
Semantic Scholar
A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature.
J. Lim, Neha S Bhatia, R. Vasanwala, P. L. Chay +4 more
2019Clinical Dysmorphology17 citations
Semantic Scholar
Ehlers-Danlos syndrome type IV and a novel mutation of the type III procollagen gene as a cause of abdominal apoplexy.
Imran Hassan, T. Rasmussen, U. Schwarze, P. Rose +2 more
2002Mayo Clinic proceedings15 citations Open access
Semantic Scholar
Autosomal dominant spondylarthropathy due to a type II procollagen gene(COL2A1) point mutation
A. Winterpacht, Matthias Hilbert, U. Schwarze, S. Mundlos +2 more
1994Human Mutation15 citations Open access
Semantic Scholar
MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV
W. Kerwin, M. Pepin, L. Mitsumori, V. Yarnykh +2 more
2008The International Journal of Cardiovascular Imaging14 citations
Semantic Scholar
A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1.
June Duong, A. Rideout, S. Mackay, J. Beis +4 more
2020European Journal of Medical Genetics13 citations
Semantic Scholar
Splenic artery pathology presentation, operative interventions, and outcomes in 88 patients with Vascular Ehlers Danlos Syndrome.
S. Shalhub, Reginald Nkansah, A. El-Ghazali, C. Hillenbrand +3 more
2023Journal of Vascular Surgery12 citations Open access
Semantic Scholar
Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta
U. Schwarze, T. Cundy, Yajuan J Liu, P. Hofman +1 more
2019American Journal of Medical Genetics. Part A11 citations
Semantic Scholar
Endovascular Repair of Internal Mammary Artery Aneurysms in 2 Sisters with SMAD3 Mutation.
D. Nevidomskytė, S. Shalhub, G. Aldea, P. Byers +3 more
2017Annals of Vascular Surgery11 citations
Semantic Scholar

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