Byers, Peter H.

The 2017 international classification of the Ehlers–Danlos syndromes

Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., et al. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 1,936

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

Pepin, M., Schwarze, U., Superti-Furga, A., & Byers, P. H. (2000) · New England Journal of Medicine

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 1,344

Osteogenesis imperfecta

Marini, J. C., Forlino, A., Bächinger, H. P., Bishop, N. J., Byers, P. H., Paepe, A. D., Fassier, F., Fratzl-Zelman, N., Kozloff, K. M., Krakow, D., et al. (2017) · Nature Reviews Disease Primers

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 842

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

Dorschner, M. O., Amendola, L. M., Turner, E. H., Robertson, P. D., Shirts, B. H., Gallego, C. J., Bennett, R. L., Jones, K. L., Tokita, M. J., Bennett, J. T., et al. (2013) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 385

Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome

Byers, P. H., Belmont, J., Black, J., De Backer, J., Frank, M., Jeunemaitre, X., Johnson, D., Pepin, M., Robert, L., Sanders, L., et al. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 381

Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene

Colige, A., Sieron, A. L., Li, S.-W., Schwarze, U., Petty, E., Wertelecki, W., Wilcox, W., Krakow, D., Cohn, D. H., Reardon, W., et al. (1999) · The American Journal of Human Genetics

Connective tissue disorders researchProtease and Inhibitor Mechanisms

Cited by 370

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

Pepin, M. G., Schwarze, U., Rice, K. M., Liu, M., Leistritz, & Byers, P. H. (2014) · Genetics in Medicine

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 313

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

Schwarze, U., Schievink, W. I., Petty, E., Jaff, M. R., Babovic-Vuksanovic, D., Cherry, K. J., Pepin, M., & Byers, P. H. (2001) · The American Journal of Human Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 184

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

Schwarze, U., Hata, R.-I., McKusick, V. A., Shinkai, H., Hoyme, H. E., Pyeritz, R. E., & Byers, P. H. (2004) · The American Journal of Human Genetics

Connective tissue disorders researchRNA Research and Splicing

Cited by 180

BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta.

Chessler, S. D., & Byers, P. H. (1993) · Journal of Biological Chemistry

Endoplasmic Reticulum Stress and DiseaseHeat shock proteins research

Cited by 155

COL3A1haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy

Leistritz, D. F., Pepin, M. G., Schwarze, U., & Byers, P. H. (2011) · Genetics in Medicine

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 141

The international consortium on the Ehlers–Danlos syndromes

Bloom, L., Byers, P., Francomano, C., Tinkle, B., Malfait, F., & on behalf of the Steering Committee of The International Consortium on the Ehlers‐Danlos Syndromes (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 123

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement

Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., et al. (2016) · The American Journal of Human Genetics

Complement system in diseasesOral microbiology and periodontitis research

Cited by 123

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

Smith, L. T., Schwarze, U., Goldstein, J., & Byers, P. H. (1997) · Journal of Investigative Dermatology

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 99

Need for a consensus on the methods by which to measure joint mobility and the definition of norms for hypermobility that reflect age, gender and ethnic-dependent variation: is revision of criteria for joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type indicated?

Remvig, L., Engelbert, R. H., Berglund, B., Bulbena, A., Byers, P. H., Grahame, R., Juul-Kristensen, B., Lindgren, K.-A., Uitto, J., & Wekre, L. L. (2011) · Rheumatology

Connective tissue disorders researchMusculoskeletal pain and rehabilitation

Cited by 99

Ehlers–Danlos syndrome: A showcase of conditions that lead to understanding matrix biology

Byers, P. H., & Murray, M. L. (2014) · Matrix Biology

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 68

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 27

FKBP14 ‐related Ehlers‐Danlos syndrome: Expansion of the phenotype to include vascular complications

Murray, M. L., Yang, M., Fauth, C., & Byers, P. H. (2014) · American Journal of Medical Genetics Part A

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 24