Cantu syndrome and hypopituitarism: implications for endocrine monitoring by Nicholas J Theis, Toby Calvert, Peter McIntyre, Stephen P Robertson, Benjamin J Wheeler

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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

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Bones in human CYP26B1 deficiency and rats with hypervitaminosis A phenocopy Vegfa overexpression by Thomas Lind, Roberta Lugano, Ann-Marie Gustafson, Maria Norgård, Arie van Haeringen, Anna Dimberg, Håkan Melhus, Stephen P. Robertson, Göran Andersson

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Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse model by Jennifer Zieba, Kimberly N. Forlenza, Kelly Heard, Jorge H. Martin, Michaela Bosakova, Daniel H. Cohn, Stephen P. Robertson, Pavel Krejci, Deborah Krakow

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Metformin rescues migratory deficits of cells derived from patients with periventricular heterotopia by Cedric Bressan, Marta Snapyan, Marina Snapyan, Johannes Klaus, Francesco diMatteo, Stephen P Robertson, Barbara Treutlein, Martin Parent, Silvia Cappello, Armen Saghatelyan

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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

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FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function by Emma M. Wade, Elizabeth A. Goodin, Yongqiang Wang, Tim Morgan, Karen E. Callon, Maureen Watson, Philip B. Daniel, Jillian Cornish, Christopher A. McCulloch, Stephen P. Robertson

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Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex by Adam C. O’Neill, Adam C. O’Neill, Christina Kyrousi, Melanie Einsiedler, Ingo Burtscher, Ingo Burtscher, Micha Drukker, Micha Drukker, David M. Markie, Edwin P. Kirk, Magdalena Götz, Magdalena Götz, Magdalena Götz, Stephen P. Robertson, Silvia Cappello

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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

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De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. by Erin L Heinzen, Adam C O'Neill, Xiaolin Zhu, Andrew S Allen, Melanie Bahlo, Jamel Chelly, Ming Hui Chen, William B Dobyns, Saskia Freytag, Renzo Guerrini, Richard J Leventer, Annapurna Poduri, Stephen P Robertson, Christopher A Walsh, Mengqi Zhang, Epi4K Consortium, Epilepsy Phenome/Genome Project

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Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity by Christina Kyrousi, Adam C. O’Neill, Agnieska Brazovskaja, Zhisong He, Pavel Kielkowski, Laure Coquand, Rossella Di Giaimo, Pierpaolo D’ Andrea, Alexander Belka, Andrea Forero Echeverry, Davide Mei, Matteo Lenge, Cristiana Cruceanu, Isabel Y. Buchsbaum, Shahryar Khattak, Guimiot Fabien, Elisabeth Binder, Frances Elmslie, Renzo Guerrini, Alexandre D. Baffet, Stephan A. Sieber, Barbara Treutlein, Stephen P. Robertson, Silvia Cappello

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

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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

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