Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations

av Pepin, Melanie G, Schwarze, Ulrike, Singh, Virendra, Romana, Marc, Jones-LeCointe, Altheia, Byers, Peter H
Publicerad 2013

Vascular Ehlers–Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family

av Jørgensen, Agnete, Fagerheim, Toril, Rand-Hendriksen, Svend, Lunde, Per I, Vorren, Torgrim O, Pepin, Melanie G, Leistritz, Dru F, Byers, Peter H
I publikationen Eur J Hum Genet (2015)

Monoallelic and Biallelic CREB3L1 Variant Causes Mild and Severe Osteogenesis Imperfecta, Respectively

av Keller, Rachel B, Tran, Thao T, Pyott, Shawna M, Pepin, Melanie G, Savarirayan, Ravi, McGillivray, George, Nickerson, Deborah A, Bamshad, Michael J, Byers, Peter H
I publikationen Genet Med (2017)

Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

av Christiansen, Helena E., Schwarze, Ulrike, Pyott, Shawna M., AlSwaid, Abdulrahman, Al Balwi, Mohammed, Alrasheed, Shatha, Pepin, Melanie G., Weis, Mary Ann, Eyre, David R., Byers, Peter H.
Publicerad 2010

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

av Pyott, Shawna M., Tran, Thao T., Leistritz, Dru F., Pepin, Melanie G., Mendelsohn, Nancy J., Temme, Renee T., Fernandez, Bridget A., Elsayed, Solaf M., Elsobky, Ezzat, Verma, Ishwar, Nair, Sreelata, Turner, Emily H., Smith, Joshua D., Jarvik, Gail P., Byers, Peter H.
Publicerad 2013

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

av Pyott, Shawna M., Schwarze, Ulrike, Christiansen, Helena E., Pepin, Melanie G., Leistritz, Dru F., Dineen, Richard, Harris, Catharine, Burton, Barbara K., Angle, Brad, Kim, Katherine, Sussman, Michael D., Weis, MaryAnn, Eyre, David R., Russell, David W., McCarthy, Kevin J., Steiner, Robert D., Byers, Peter H.
Publicerad 2011

CRTAP AND LEPRE1 MUTATIONS IN RECESSIVE OSTEOGENESIS IMPERFECTA

av Baldridge, Dustin, Schwarze, Ulrike, Morello, Roy, Lennington, Jennifer, Bertin, Terry K., Pace, James M., Pepin, Melanie G., Weis, MaryAnn, Eyre, David R., Walsh, Jennifer, Lambert, Deborah, Green, Andrew, Robinson, Haynes, Michelson, Melonie, Houge, Gunnar, Lindman, Carl, Martin, Judith, Ward, Jewell, Lemyre, Emmanuelle, Mitchell, John J., Krakow, Deborah, Rimoin, David L., Cohn, Daniel H., Byers, Peter H., Lee, Brendan
Publicerad 2008