UlrikeSchwarzeMD

PubMed

• Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
  Jonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, Giuseppe Albano, Danny E Miller, Aimee Allworth, James T Bennett, Peter H Byers, Sirisak Chanprasert, Jingheng Ch...> ;Annals of Clinical and Translational Neurology. 2023 Jun 1
• 4 citations
  EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
  Christin S Adamo, Aude Beyens, Alvise Schiavinato, Douglas R Keene, Sara F Tufa, Matthias Mörgelin, Jürgen Brinckmann, Takako Sasaki, Anja Niehoff, Maren Dreiner, Lore...> ;American Journal of Human Genetics. 2022 Dec 1
• Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4-related arteriopathy.
  E. Haan, Francois H. Chamalaun, Steven A. J. Chamuleau, Leonard F Arnolda, John P. Slavotinek, Nadia Clare Wise, Dimuth N. Gunawardane, Ulrike Schwarze, Peter H. Byers...> ;American Journal of Medical Genetics. Part A. 2021 Apr 20
• 17 citations
  Abnormal Bone Collagen Cross-Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound Heterozygous PLOD2 Mutations.
  Charlotte Gistelinck, MaryAnn Weis, Jyoti Rai, Ulrike Schwarze, Dmitriy Niyazov, Kit M Song, Peter H. Byers, David R. Eyre> ;JBMR Plus. 2021 Mar 1
• 118 citations
  Multicenter Clinicopathologic Correlation of Kidney Biopsies Performed in COVID-19 Patients Presenting With Acute Kidney Injury or Proteinuria.
  Shreeram Akilesh, Cynthia C. Nast, Michifumi Yamashita, Kammi J. Henriksen, Vivek Charu, Megan L. Troxell, Neeraja Kambham, Erika Bracamonte, Donald C. Houghton, Naila...> ;American Journal of Kidney Diseases. 2021 Jan 1
• 10 citations
  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, Andrea Rideout, Sara Mackay, Jill Beis, Sandhya Parkash, Ulrike Schwarze, S. Gabrielle Horne, Anthony Vandersteen> ;European Journal of Medical Genetics. 2020 Feb 1
• 14 citations
  A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature.
  Jiin Ying Lim, Neha Singh Bhatia, Rashida Farhad Vasanwala, Pui Ling Chay, Kevin Boon Leong Lim, Poh Choo Khoo, Ulrike Schwarze, Saumya Shekhar Jamuar> ;Clinical Dysmorphology. 2019 Jul 1
• 6 citations
  Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta
  Ulrike Schwarze, Tim Cundy, Yajuan J. Liu, Paul L. Hofman, Peter H. Byers> ;American Journal of Medical Genetics. Part A. 2019 Jun 9
• 18 citations
  Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype.
  Tim Cundy, Michael Dray, John W. Delahunt, Jannie Dahl Hald, Bente L. Langdahl, Chumei Li, Marta Szybowska, Shehla Mohammed, Emma L. Duncan, Aideen M. McInerney-Leo, P...> ;Journal of Bone and Mineral Research. 2018 Jul 1
• 10 citations
  Endovascular Repair of Internal Mammary Artery Aneurysms in 2 Sisters with SMAD3 Mutation.
  Daiva Nevidomskyte, Sherene Shalhub, Gabriel S. Aldea, Peter H. Byers, Ulrike Schwarze, Mitzi L. Murray, Benjamin W. Starnes> ;Annals of Vascular Surgery. 2017 May 1
• 49 citations
  The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories
  Melanie Pepin, Mitzi L. Murray, Samuel S. Bailey, Dru Leistritz-Kessler, Ulrike Schwarze, Peter H. Byers> ;Genetics in Medicine. 2016 Jan 1
• 40 citations
  A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes
  Kelly L. Jones, Ulrike Schwarze, Margaret P Adam, Peter H. Byers, Heather C Mefford> ;American Journal of Medical Genetics. Part A. 2015 Nov 1
• 52 citations
  Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
  Björn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, Yu Xuan Tan, Mohammed Al Bughaili, Angela E. Lin, Inderneel Sahai, Paulina Bahena, Sara L. Reichert, Abi...> ;American Journal of Human Genetics. 2015 Sep 3
• 20 citations
  Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen.
  Jennifer Schleit, Samuel S. Bailey, Thao Tran, Diana Chen, Susan Stowers, Ulrike Schwarze, Peter H. Byers> ;Human Mutation. 2015 Jul 1
• 162 citations
  Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).
  Melanie Pepin, Ulrike Schwarze, Kenneth Rice, Mingdong Liu, Dru F. Leistritz, Peter H. Byers> ;Genetics in Medicine. 2014 Jun 12
• 17 citations
  Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations.
  Melanie Pepin, Ulrike Schwarze, Virendra Singh, Marc Romana, Altheia Jones-Lecointe, Peter H. Byers> ;Molecular Genetics & Genomic Medicine. 2013 Nov 1
• 99 citations
  Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
  Ulrike Schwarze, Tim Cundy, Shawna M. Pyott, Helena E. Christiansen, Madhuri Hegde, Ruud A. Bank, Gerard Pals, Arunkanth Ankala, Karen N. Conneely, Laurie H. Seaver, S...> ;Human Molecular Genetics. 2013 Jan 1
• 6 citations
  Characterization of tissue-specific and developmentally regulated alternative splicing of exon 64 in the COL5A1 gene.
  Anna L. Mitchell, LuAnn Judis, Ulrike Schwarze, Polina M. Vaynshtok, Mitchell L. Drumm, Peter H. Byers> ;Connective Tissue Research. 2012 Apr 27
• 59 citations
  Normal Collagen and Bone Production by Gene-targeted Human Osteogenesis Imperfecta iPSCs
  David R. Deyle, Iram F. Khan, Gaoying Ren, Pei Rong Wang, Jordan Kho, Ulrike Schwarze, David W. Russell> ;Molecular Therapy. 2012 Jan 1
• 80 citations
  COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy
  Dru F. Leistritz, Melanie Pepin, Ulrike Schwarze, Peter H. Byers> ;Genetics in Medicine. 2011 Aug 1
• 83 citations
  Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes
  Shawna M. Pyott, Ulrike Schwarze, Helena E. Christiansen, Melanie Pepin, Dru F. Leistritz, Richard Dineen, Catharine J. Harris, Barbara K. Burton, Brad Angle, Katherin...> ;Human Molecular Genetics. 2011 Apr 15
• 47 citations
  Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
  Shawna M. Pyott, Melanie Pepin, Ulrike Schwarze, Kathleen Yang, Gretchen Smith, Peter H. Byers> ;Genetics in Medicine. 2011 Feb 1
• 207 citations
  Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta
  Helena E. Christiansen, Ulrike Schwarze, Shawna M. Pyott, Abdulrahman Alswaid, Mohammed Al Balwi, Shatha Alrasheed, Melanie Pepin, MaryAnn Weis, David R. Eyre, Peter H...> ;American Journal of Human Genetics. 2010 Mar 12
• 18 citations
  Successful endovascular repair of acute type B aortic dissection in undiagnosed Ehlers-Danlos syndrome type IV.
  Z. Khalique, Oliver Lyons, Rachel E. Clough, Rachel Bell, J. F. Reidy, Ulrike Schwarze, Peter H. Byers, Peter N Taylor> ;European Journal of Vascular and Endovascular Surgery. 2009 Nov 1
• 33 citations
  Molecular mechanisms of classical Ehlers‐Danlos syndrome (EDS)
  Anna L. Mitchell, Ulrike Schwarze, Jessica F. Jennings, Peter H. Byers> ;Human Mutation. 2009 Jun 1
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