Cantu syndrome and hypopituitarism: implications for endocrine monitoring

por Theis, Nicholas J, Calvert, Toby, McIntyre, Peter, Robertson, Stephen P, Wheeler, Benjamin J
Publicado 2019

A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

por Mazzaschi, Roberto L. P., Taylor, Juliet, Robertson, Stephen P., Love, Donald R., George, Alice M.
Publicado 2014

Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia

por Wade, Emma M., Parthasarathy, Padmini, Mi, Jingyi, Morgan, Tim, Wollnik, Bernd, Robertson, Stephen P., Cundy, Tim
Publicado 2021

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

Bones in human CYP26B1 deficiency and rats with hypervitaminosis A phenocopy Vegfa overexpression

por Lind, Thomas, Lugano, Roberta, Gustafson, Ann-Marie, Norgård, Maria, van Haeringen, Arie, Dimberg, Anna, Melhus, Håkan, Robertson, Stephen P., Andersson, Göran
Publicado 2018

Metformin rescues migratory deficits of cells derived from patients with periventricular heterotopia

por Bressan, Cedric, Snapyan, Marta, Snapyan, Marina, Klaus, Johannes, di Matteo, Francesco, Robertson, Stephen P, Treutlein, Barbara, Parent, Martin, Cappello, Silvia, Saghatelyan, Armen
Publicado 2023

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases

por Bernkopf, Marie, Hunt, David, Koelling, Nils, Morgan, Tim, Collins, Amanda L., Fairhurst, Joanna, Robertson, Stephen P., Douglas, Andrew G. L., Goriely, Anne
Publicado 2017

Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse model

por Zieba, Jennifer, Forlenza, Kimberly N., Heard, Kelly, Martin, Jorge H., Bosakova, Michaela, Cohn, Daniel H., Robertson, Stephen P., Krejci, Pavel, Krakow, Deborah
Publicado 2022

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

ECE2 regulates neurogenesis and neuronal migration during human cortical development

por Buchsbaum, Isabel Y, Kielkowski, Pavel, Giorgio, Grazia, O'Neill, Adam C, Di Giaimo, Rossella, Kyrousi, Christina, Khattak, Shahryar, Sieber, Stephan A, Robertson, Stephen P, Cappello, Silvia
Publicado 2020

FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function

por Wade, Emma M., Goodin, Elizabeth A., Wang, Yongqiang, Morgan, Tim, Callon, Karen E., Watson, Maureen, Daniel, Philip B., Cornish, Jillian, McCulloch, Christopher A., Robertson, Stephen P.
Publicado 2023

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant

por Rumping, Lynne, Wessels, Marja W., Postma, Alex V., van Schuppen, Joost, van Slegtenhorst, Marjon A., Saris, Jasper J., van Tintelen, J. Peter, Robertson, Stephen P., Alders, Mariëlle, Maas, Saskia M., Deprez, Ronald H. Lekanne
Publicado 2021

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

por Jacobsen, Jessie C., Glamuzina, Emma, Taylor, Juliet, Swan, Brendan, Handisides, Shona, Wilson, Callum, Fietz, Michael, van Dijk, Tessa, Appelhof, Bart, Hill, Rosamund, Marks, Rosemary, Love, Donald R., Robertson, Stephen P., Snell, Russell G., Lehnert, Klaus
Publicado 2015

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

por Heinzen, Erin L., O'Neill, Adam C., Zhu, Xiaolin, Allen, Andrew S., Bahlo, Melanie, Chelly, Jamel, Chen, Ming Hui, Dobyns, William B., Freytag, Saskia, Guerrini, Renzo, Leventer, Richard J., Poduri, Annapurna, Robertson, Stephen P., Walsh, Christopher A., Zhang, Mengqi
Publicado 2018

Gain of function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

por Heyn, Patricia, Logan, Clare V., Fluteau, Adeline, Challis, Rachel C., Auchynnikava, Tatsiana, Martin, Carol-Anne, Marsh, Joseph A., Taglini, Francesca, Kilanowski, Fiona, Parry, David A., Cormier-Daire, Valerie, Fong, Chin-To, Gibson, Kate, Hwa, Vivian, Ibáñez, Lourdes, Robertson, Stephen P., Sebastiani, Giorgia, Rappsilber, Juri, Allshire, Robin C., Reijns, Martin A.M., Dauber, Andrew, Sproul, Duncan, Jackson, Andrew P.
Publicado 2018

Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity

por Kyrousi, Christina, O’Neill, Adam C., Brazovskaja, Agnieska, He, Zhisong, Kielkowski, Pavel, Coquand, Laure, Di Giaimo, Rossella, D’ Andrea, Pierpaolo, Belka, Alexander, Forero Echeverry, Andrea, Mei, Davide, Lenge, Matteo, Cruceanu, Cristiana, Buchsbaum, Isabel Y., Khattak, Shahryar, Fabien, Guimiot, Binder, Elisabeth, Elmslie, Frances, Guerrini, Renzo, Baffet, Alexandre D., Sieber, Stephan A., Treutlein, Barbara, Robertson, Stephen P., Cappello, Silvia
Publicado 2021

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