Publications by authors named "Shawna M Pyott"

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Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.
Rachel B Keller, Thao T Tran, Shawna M Pyott, Melanie G Pepin, Ravi Savarirayan

Genet Med· April 2018

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Therapy-related myelodysplastic syndrome following primary breast cancer.
Judith A Malmgren, Gregory S Calip, Shawna M Pyott, Mary K Atwood, Henry G Kaplan

Leuk Res· August 2016

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Recessively inherited forms of osteogenesis imperfecta.
Peter H Byers, Shawna M Pyott

Annu Rev Genet· April 2013

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WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.
Shawna M Pyott, Thao T Tran, Dru F Leistritz, Melanie G Pepin, Nancy J Mendelsohn

Am J Hum Genet· April 2013

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Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Ulrike Schwarze, Tim Cundy, Shawna M Pyott, Helena E Christiansen, Madhuri R Hegde

Hum Mol Genet· January 2013

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Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.
Shawna M Pyott, Ulrike Schwarze, Helena E Christiansen, Melanie G Pepin, Dru F Leistritz

Hum Mol Genet· April 2011

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Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance.
Shawna M Pyott, Melanie G Pepin, Ulrike Schwarze, Kathleen Yang, Gretchen Smith

Genet Med· February 2011

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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, Mohammed Al Balwi

Am J Hum Genet· March 2010

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