Peter H. Byers

Peter H. Byers publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Peter H. Byers sits on this spectrum.

Peter H. Byers D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Peter H. Byers sits on this spectrum.

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