Intragenic Deletions in <i>FLNB</i> Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome

by Kaya Fukushima, Padmini Parthasarathy, Emma M. Wade, Tim Morgan, Kalpana Gowrishankar, David M. Markie, Stephen P. Robertson
Published 2021-04-01

Deletion of Exon 1 in <i>AMER1</i> in Osteopathia Striata with Cranial Sclerosis

by Jingyi Mi, Padmini Parthasarathy, Benjamin J. Halliday, Tim Morgan, John Dean, Malgorzata J. M. Nowaczyk, David Markie, Stephen P. Robertson, Emma M. Wade
Published 2020-11-01

Menkes disease: importance of diagnosis with molecular analysis in the neonatal period

by Larissa Sampaio de Athayde Costa, Stephanie Pucci Pegler, Rute Facchini Lellis, Vera Lúcia Jornada Krebs, Stephen Robertson, Tim Morgan, Rachel Sayuri Honjo, Débora Romeo Bertola, Chong Ae Kim
Published 2015-10-01

A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration

by Adam C. O’Neill, Christina Kyrousi, Johannes Klaus, Richard J. Leventer, Edwin P. Kirk, Andrew Fry, Daniela T. Pilz, Tim Morgan, Zandra A. Jenkins, Micha Drukker, Samuel F. Berkovic, Ingrid E. Scheffer, Renzo Guerrini, David M. Markie, Magdalena Götz, Silvia Cappello, Stephen P. Robertson
Published 2018-12-01

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

by Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F. Rose, Nicole M. Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D. Webb, Caroline D. Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R. Ferreira, Tyler Hartman, Ian M. Hayes, Tim Morgan, David M. Markie, Michela Fagiolini, Amy Swift, Peter S. Chines, Carlos E. Speck-Martins, Francis S. Collins, Ethylin Wang Jabs, Carsten G. Bönnemann, Eric N. Olson, Moebius Syndrome Research Consortium, John C. Carey, Stephen P. Robertson, Irini Manoli, Elizabeth C. Engle
Published 2017-07-01