Pepin, Melanie

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

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

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

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

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