Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans
Liegel, Ryan P., Handley, Mark T., Ronchetti, Adam, Brown, Stephen, Langemeyer, Lars, Linford, Andrea, Chang, Bo, Morris-Rosendahl, Deborah J., Carpanini, Sarah, Posmyk, Renata, Harthill, Verity, Sheridan, Eamonn, Abdel-Salam, Ghada M.H., Terhal, Paulien A., Faravelli, Francesca, Accorsi, Patrizia, Giordano, Lucio, Pinelli, Lorenzo, Hartmann, Britta, Ebert, Allison D., Barr, Francis A., Aligianis, Irene A., Sidjanin, Duska J.
Published in American journal of human genetics (05.12.2013)
Published in American journal of human genetics (05.12.2013)
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Differential requirements of tubulin genes in mammalian forebrain development
Bittermann, Elizabeth, Abdelhamed, Zakia, Liegel, Ryan P, Menke, Chelsea, Timms, Andrew, Beier, David R, Stottmann, Rolf W
Published in PLoS genetics (06.08.2019)
Published in PLoS genetics (06.08.2019)
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Using human sequencing to guide craniofacial research
Liegel, Ryan P., Finnerty, Erin, Blizzard, Lauren, DiStasio, Andrew, Hufnagel, Robert B., Saal, Howard M., Sund, Kristen L., Prows, Cynthia A., Stottmann, Rolf W.
Published in Genesis (New York, N.Y. : 2000) (01.01.2019)
Published in Genesis (New York, N.Y. : 2000) (01.01.2019)
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Successful therapeutic intervention in new mouse models of frizzled 2-associated congenital malformations
Liegel, Ryan P, Michalski, Megan N, Vaidya, Sanika, Bittermann, Elizabeth, Finnerty, Erin, Menke, Chelsea A, Diegel, Cassandra R, Zhong, Zhendong A, Williams, Bart O, Stottmann, Rolf W
Published in Development (Cambridge) (01.02.2023)
Published in Development (Cambridge) (01.02.2023)
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