Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome

por Fukushima, Kaya, Parthasarathy, Padmini, Wade, Emma M., Morgan, Tim, Gowrishankar, Kalpana, Markie, David M., Robertson, Stephen P.
Publicado 2021

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 2018

Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy

por Vincent, Andrea L., Markie, David M., De Karolyi, Betina, Wheeldon, Catherine E., Patel, Dipika V., Grupcheva, Christina N., McGhee, Charles N.J.
Publicado 2009

Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis

por Mi, Jingyi, Parthasarathy, Padmini, Halliday, Benjamin J., Morgan, Tim, Dean, John, Nowaczyk, Malgorzata J. M., Markie, David, Robertson, Stephen P., Wade, Emma M.
Publicado 2020

Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex

por O’Neill, Adam C., Kyrousi, Christina, Einsiedler, Melanie, Burtscher, Ingo, Drukker, Micha, Markie, David M., Kirk, Edwin P., Götz, Magdalena, Robertson, Stephen P., Cappello, Silvia
Publicado 2018

Germline mutations and somatic inactivation of TRIM28 in Wilms tumour

por Halliday, Benjamin J., Fukuzawa, Ryuji, Markie, David M., Grundy, Richard G., Ludgate, Jackie L., Black, Michael A., Skeen, Jane E., Weeks, Robert J., Catchpoole, Daniel R., Roberts, Aedan G. K., Reeve, Anthony E., Morison, Ian M.
Publicado 2018

Tuberous sclerosis complex: a complex case

por Powell, Ryan M., Pattison, Sharon, Moravec, Jiri C., Bhat, Basharat, Guirguis, Nada, Markie, David, Jones, Greg T., Copedo, Jason, Print, Cristin G., Morison, Ian M., Gavryushkin, Alex, Gray, Bronwyn, Wyeth, Lisa J., Eccles, Mike R., Macaulay, Erin C.
Publicado 2022

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

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

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

por Di Gioia, Silvio Alessandro, Connors, Samantha, Matsunami, Norisada, Cannavino, Jessica, Rose, Matthew F., Gilette, Nicole M., Artoni, Pietro, de Macena Sobreira, Nara Lygia, Chan, Wai-Man, Webb, Bryn D., Robson, Caroline D., Cheng, Long, Van Ryzin, Carol, Ramirez-Martinez, Andres, Mohassel, Payam, Leppert, Mark, Scholand, Mary Beth, Grunseich, Christopher, Ferreira, Carlos R., Hartman, Tyler, Hayes, Ian M., Morgan, Tim, Markie, David M., Fagiolini, Michela, Swift, Amy, Chines, Peter S., Speck-Martins, Carlos E., Collins, Francis S., Jabs, Ethylin Wang, Bönnemann, Carsten G., Olson, Eric N., Carey, John C., Robertson, Stephen P., Manoli, Irini, Engle, Elizabeth C.
Publicado 2017