D-Index & Metrics Best Publications

D-Index & Metrics

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics and Molecular Biology D-index 69 Citations 13,599 131 World Ranking 1561 National Ranking 804

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Internal medicine
  • Mutation

Peter H. Byers mostly deals with Genetics, Mutation, Ehlers–Danlos syndrome, Osteogenesis imperfecta and Procollagen peptidase. The concepts of his Mutation study are interwoven with issues in Extracellular matrix, Haploinsufficiency and Genotype. As part of the same scientific family, Peter H. Byers usually focuses on Ehlers–Danlos syndrome, concentrating on Genetic heterogeneity and intersecting with Pathology, Ultrastructure, Dermis, Computational biology and Novel gene.

His biological study spans a wide range of topics, including Type I collagen, Mutation, Germline mosaicism and Cell biology. His Type I collagen research is multidisciplinary, incorporating elements of Protein structure, Biochemistry, Molecular biology and Mutant. He has researched Procollagen peptidase in several fields, including Endoplasmic reticulum, Point mutation and Protein precursor.

His most cited work include:

  • Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor (1189 citations)
  • Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. (951 citations)
  • The 2017 international classification of the Ehlers-Danlos syndromes (506 citations)

What are the main themes of his work throughout his whole career to date?

Osteogenesis imperfecta, Genetics, Ehlers–Danlos syndrome, Type I collagen and Procollagen peptidase are his primary areas of study. His research investigates the connection between Osteogenesis imperfecta and topics such as Internal medicine that intersect with problems in Cardiology. His Genetics study frequently intersects with other fields, such as Molecular biology.

Pathology covers he research in Ehlers–Danlos syndrome. His study in Type I collagen is interdisciplinary in nature, drawing from both Alpha and Mutant. His studies in Procollagen peptidase integrate themes in fields like Amino acid, Secretion, Biochemistry, Collagen, type I, alpha 1 and Protein precursor.

He most often published in these fields:

  • Osteogenesis imperfecta (36.57%)
  • Genetics (30.10%)
  • Ehlers–Danlos syndrome (19.74%)

What were the highlights of his more recent work (between 2011-2021)?

  • Osteogenesis imperfecta (36.57%)
  • Genetics (30.10%)
  • Ehlers–Danlos syndrome (19.74%)

In recent papers he was focusing on the following fields of study:

His primary areas of study are Osteogenesis imperfecta, Genetics, Ehlers–Danlos syndrome, Internal medicine and Pediatrics. His research integrates issues of Clinical research, Type I collagen, Phenotype, Disease and Cohort in his study of Osteogenesis imperfecta. His study in Gene, Allele, Mutation, Exon and Missense mutation are all subfields of Genetics.

His Exon research incorporates elements of Molecular biology and Compound heterozygosity. Peter H. Byers combines subjects such as Joint hypermobility, Retrospective cohort study and Bioinformatics with his study of Ehlers–Danlos syndrome. His Internal medicine research includes elements of Endocrinology, Haploinsufficiency and Cardiology.

Between 2011 and 2021, his most popular works were:

  • The 2017 international classification of the Ehlers-Danlos syndromes (506 citations)
  • Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes (303 citations)
  • Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm (297 citations)

In his most recent research, the most cited papers focused on:

  • Gene
  • Internal medicine
  • Mutation

Peter H. Byers mainly focuses on Genetics, Osteogenesis imperfecta, Ehlers–Danlos syndrome, Exome sequencing and Bioinformatics. His work in Allele, Mutation, Missense mutation, Gene and Genetic testing is related to Genetics. His research in Mutation focuses on subjects like Type I collagen, which are connected to Osteoblast, Heterozygote advantage, Procollagen peptidase and Lysyl hydroxylase.

The Osteogenesis imperfecta study combines topics in areas such as Prenatal diagnosis, Genetic heterogeneity, Surgery and Cohort. His Ehlers–Danlos syndrome study incorporates themes from Joint hypermobility, Young adult, Natural history, Uterine rupture and Family history. The Joint hypermobility study which covers Pathology that intersects with Novel gene.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

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.
The New England Journal of Medicine (2006)

1511 Citations

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

Melanie Pepin;Ulrike Schwarze;Andrea Superti-Furga;Peter H. Byers.
The New England Journal of Medicine (2000)

1219 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.
Human Mutation (2007)

752 Citations

The 2017 international classification of the Ehlers-Danlos syndromes

Fransiska Malfait;Clair Francomano;Peter H Byers;John Belmont.
American Journal of Medical Genetics Part C-seminars in Medical Genetics (2017)

727 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.
Cell (2006)

477 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.
Heart (2008)

467 Citations

Gene targeting in stem cells from individuals with osteogenesis imperfecta.

Joel R. Chamberlain;Ulrike Schwarze;Pei Rong Wang;Roli K. Hirata.
Science (2004)

414 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.
American Journal of Human Genetics (1999)

379 Citations

Osteogenesis imperfecta: translation of mutation to phenotype.

Peter H. Byers;Gillian A. Wallis;Marcia Willing.
Journal of Medical Genetics (1991)

372 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.
Biochemistry (1978)

363 Citations

Best Scientists Citing Peter H. Byers

Harry C. Dietz

Harry C. Dietz

Johns Hopkins University School of Medicine

Publications: 104

Bart Loeys

Bart Loeys

University of Antwerp

Publications: 96

Dianna M. Milewicz

Dianna M. Milewicz

The University of Texas Health Science Center at Houston

Publications: 96

Anne De Paepe

Anne De Paepe

Ghent University Hospital

Publications: 89

Darwin J. Prockop

Darwin J. Prockop

Texas A&M University

Publications: 82

Joan C. Marini

Joan C. Marini

National Institutes of Health

Publications: 82

Frank Rauch

Frank Rauch

Shriners Hospitals for Children - Erie

Publications: 71

Hans Peter Bächinger

Hans Peter Bächinger

Oregon Health & Science University

Publications: 68

John F. Bateman

John F. Bateman

University of Melbourne

Publications: 64

Reed E. Pyeritz

Reed E. Pyeritz

University of Pennsylvania

Publications: 61

Paul Coucke

Paul Coucke

Ghent University

Publications: 60

Beat Steinmann

Beat Steinmann

Boston Children's Hospital

Publications: 58

Francis H. Glorieux

Francis H. Glorieux

McGill University

Publications: 57

William G. Cole

William G. Cole

University of Toronto

Publications: 54

David R. Eyre

David R. Eyre

University of Washington

Publications: 53

Brendan Lee

Brendan Lee

Baylor College of Medicine

Publications: 53

Profile was last updated on December 6th, 2021.
Research.com Ranking is based on data retrieved from the Microsoft Academic Graph (MAG).
The ranking d-index is inferred from publications deemed to belong to the considered discipline.

If you think any of the details on this page are incorrect, let us know.

Contact us
Something went wrong. Please try again later.