Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family

Por Cameron-Christie, Sophia R., Wilde, Justin, Gray, Andrew, Tankard, Rick, Bahlo, Melanie, Markie, David, Evans, Helen M., Robertson, Stephen P.
Publicado no BMC Med Genomics (2018)

Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome

Por Bunn, Kieran J., Daniel, Phil, Rösken, Heleen S., O’Neill, Adam C., Cameron-Christie, Sophia R., Morgan, Tim, Brunner, Han G., Lai, Angeline, Kunst, Henricus P.M., Markie, David M., Robertson, Stephen P.
Publicado no Am J Hum Genet (2015)

Ancient mitogenomes of Phoenicians from Sardinia and Lebanon: A story of settlement, integration, and female mobility

Por Matisoo-Smith, E., Gosling, A. L., Platt, D., Kardailsky, O., Prost, S., Cameron-Christie, S., Collins, C. J., Boocock, J., Kurumilian, Y., Guirguis, M., Pla Orquín, R., Khalil, W., Genz, H., Abou Diwan, G., Nassar, J., Zalloua, P.
Publicado no PLoS One (2018)

Exome-Based Rare-Variant Analyses in CKD

Por Cameron-Christie, Sophia, Wolock, Charles J., Groopman, Emily, Petrovski, Slavé, Kamalakaran, Sitharthan, Povysil, Gundula, Vitsios, Dimitrios, Zhang, Mengqi, Fleckner, Jan, March, Ruth E., Gelfman, Sahar, Marasa, Maddalena, Li, Yifu, Sanna-Cherchi, Simone, Kiryluk, Krzysztof, Allen, Andrew S., Fellström, Bengt C., Haefliger, Carolina, Platt, Adam, Goldstein, David B., Gharavi, Ali G.
Publicado no J Am Soc Nephrol (2019)

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3

Por Cameron-Christie, Sophia R., Wells, Constance F., Simon, Marleen, Wessels, Marja, Tang, Candy Z.N., Wei, Wenhua, Takei, Riku, Aarts-Tesselaar, Coranne, Sandaradura, Sarah, Sillence, David O., Cordier, Marie-Pierre, Veenstra-Knol, Hermine E., Cassina, Matteo, Ludkig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M., Jenkins, Zandra A., Robertson, Stephen P.
Publicado no Am J Hum Genet (2018)

Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus

Por Lord J.J. Gowans, Sophia Cameron-Christie, Rebecca L. Slayton, Tamara Busch, Miguel Romero-Bustillos, Steven Eliason, Mason Sweat, Nara Sobreira, Wenjie Yu, Piranit N. Kantaputra, Piranit N. Kantaputra, Elizabeth Wohler, Wasiu Lanre Adeyemo, Salil A. Lachke, Deepti Anand, Collen Campbell, Bernadette K. Drummond, David M. Markie, W. Jansen van Vuuren, L. Jansen van Vuuren, Paul S. Casamassimo, Ronald Ettinger, Arwa Owais, I. van Staden, Brad A. Amendt, Adebowale A. Adeyemo, Jeffrey C. Murray, Stephen P. Robertson, Azeez Butali
Publicado em 2019-09-01

Diagnostic Utility of Exome Sequencing for Kidney Disease

Por Groopman, E.E., Marasa, M., Cameron-Christie, S., Petrovski, S., Aggarwal, V.S., Milo-Rasouly, H., Li, Y., Zhang, J., Nestor, J., Krithivasan, P., Lam, W.Y., Mitrotti, A., Piva, S., Kil, B.H., Chatterjee, D., Reingold, R., Bradbury, D., DiVecchia, M., Snyder, H., Mu, X., Mehl, K., Balderes, O., Fasel, D.A., Weng, C., Radhakrishnan, J., Canetta, P., Appel, G.B., Bomback, A.S., Ahn, W., Uy, N.S., Alam, S., Cohen, D.J., Crew, R.J., Dube, G.K., Rao, M.K., Kamalakaran, S., Copeland, B., Ren, Z., Bridgers, J., Malone, C.D., Mebane, C.M., Dagaonkar, N., Fellström, B.C., Haefliger, C., Mohan, S., Sanna-Cherchi, S., Kiryluk, K., Fleckner, J., March, R., Platt, A., Goldstein, D.B., Gharavi, A.G.
Publicado no N Engl J Med (2018)