Shawna M. Pyott

University of Washington — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

12h-index1.6kcitations12works0.02yr avg
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Research Topics

Connective tissue disorders research(10), Bone and Dental Protein Studies(6), Protease and Inhibitor Mechanisms(3), Neurogenetic and Muscular Disorders Research(3), Bone fractures and treatments(2)

Publications12 total

Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively
Genetics in Medicine·2017· 72 citedOpen Access
Therapy-related myelodysplastic syndrome following primary breast cancer
Leukemia Research·2016· 15 citedOpen Access
BAP1 Immunohistochemistry and p16 FISH in the Diagnosis of Sarcomatous and Desmoplastic Mesotheliomas
The American Journal of Surgical Pathology·2016· 107 cited
WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta
The American Journal of Human Genetics·2013· 205 citedOpen Access
Recessively Inherited Forms of Osteogenesis Imperfecta
Annual Review of Genetics·2012· 104 cited
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
Human Molecular Genetics·2012· 137 citedOpen Access
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes
Human Molecular Genetics·2011· 134 citedOpen Access
Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
Genetics in Medicine·2011· 79 citedOpen Access
Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta
The American Journal of Human Genetics·2010· 30 citedOpen Access
Generalized Connective Tissue Disease in Crtap-/- Mouse
PLoS ONE·2010· 61 citedOpen Access
Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta
The American Journal of Human Genetics·2010· 312 citedOpen Access
Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta
The American Journal of Human Genetics·2010· 354 citedOpen Access

Frequent Co-authors

Peter H. Byers(10), David R. Eyre(6), Melanie Pepin(5), Ulrike Schwarze(3), Dustin Baldridge(3), Brendan Lee(3), Daniel H. Cohn(3), Deborah Krakow(3), Helena E. Christiansen(2), Mary Ann Weis(2), Yasemin Alanay(2), Hrispima Avaygan(2), Natalia Camacho(2), Gülen Eda Ütine(2), Koray Boduroğlu(2), Dilek Aktaş(2), Mehmet Alikaşifoğlu(2), Ergül Tunçbılek(2), Filiz Tiker Bakar(2), B. Zabel(2)