Peter H. Byers

Overview

Best Publications

• Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

  Bart L. Loeys;Bart L. Loeys;Ulrike Schwarze;Tammy Holm;Bert L. Callewaert

  1773
  Citations

• The 2017 international classification of the Ehlers-Danlos syndromes

  Fransiska Malfait;Clair Francomano;Peter H Byers;John Belmont

  1614
  Citations

• Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.

  Melanie Pepin;Ulrike Schwarze;Andrea Superti-Furga;Peter H. Byers

  1437
  Citations

• 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;Antonella Forlino;Antonella Forlino;Wayne A. Cabral;Aileen M. Barnes

  885
  Citations

• CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.

  Roy Morello;Terry K. Bertin;Yuqing Chen;Yuqing Chen;John Hicks

  553
  Citations

• The bicuspid aortic valve: an integrated phenotypic classification of leaflet morphology and aortic root shape.

  Benjamin M Schaefer;Mark B Lewin;Karen K Stout;Edward Gill

  549
  Citations

• Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

  Mark E. Lindsay;Dorien Schepers;Nikhita Ajit Bolar;Jefferson J. Doyle

  467
  Citations

• Gene targeting in stem cells from individuals with osteogenesis imperfecta.

  Joel R. Chamberlain;Ulrike Schwarze;Pei Rong Wang;Roli K. Hirata

  436
  Citations

• Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.

  Alain Colige;Aleksander L. Sieron;Shi Wu Li;Ulrike Schwarze

  425
  Citations

• Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

  Michael O. Dorschner;Laura M. Amendola;Emily H. Turner;Peggy D. Robertson

  415
  Citations

• Osteogenesis imperfecta: translation of mutation to phenotype.

  Peter H. Byers;Gillian A. Wallis;Marcia Willing

  409
  Citations

• Actionable exomic incidental findings in 6503 participants: challenges of variant classification

  Laura M. Amendola;Michael O. Dorschner;Peggy D. Robertson;Joseph S. Salama

  397
  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

  377
  Citations

• Correlation of procollagen mRNA levels in normal and transformed chick embryo fibroblasts with different rates of procollagen synthesis.

  David W. Rowe;Robert C. Moen;Jeffrey M. Davidson;Peter H. Byers

  370
  Citations

• ASHG Statement* on Direct-to-Consumer Genetic Testing in the United States

  Kathy Hudson;Gail Javitt;Wylie Burke;Peter Byers

  356
  Citations

• Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

  Yasemin Alanay;Hrispima Avaygan;Natalia Camacho;G. Eda Utine

  355
  Citations

• Marfan syndrome : defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts

  D M Milewicz;R E Pyeritz;E S Crawford;P H Byers

  343
  Citations

• Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome

  Peter H. Byers;John Belmont;James Black;Julie De Backer

  310
  Citations

• Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).

  Melanie G. Pepin;Ulrike Schwarze;Kenneth M. Rice;Mingdong Liu

  302
  Citations

• Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

  P H Byers;P Tsipouras;J F Bonadio;B J Starman

  300
  Citations