Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants von McLaren, Terri L., De Roach, John N., Thompson, Jennifer A., Chen, Fred K., Mackey, David A., Hoffmann, Ling, Urwin, Isabella R., Lamey, Tina M.

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Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach von de Bruijn, Suzanne E, Panneman, Daan M, Weisschuh, Nicole, Cadena, Elizabeth L, Boonen, Erica G M, Holtes, Lara K, Astuti, Galuh D N, Cremers, Frans P M, Leijsten, Nico, Corominas, Jordi, Gilissen, Christian, Skowronska, Anna, Woodley, Jessica, Beggs, Andrew D, Toulis, Vasileios, Chen, Di, Cheetham, Michael E, Hardcastle, Alison J, McLaren, Terri L, Lamey, Tina M, Thompson, Jennifer A, Chen, Fred K, de Roach, John N, Urwin, Isabella R, Sullivan, Lori S, Roosing, Susanne

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Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants von McLaren, Terri L, De Roach, John N, Thompson, Jennifer A, Chen, Fred K, Mackey, David A, Hoffmann, Ling, Urwin, Isabella R, Lamey, Tina M

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