A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome

por Fenwick, Aimee L, Bowdin, Sarah C, Klatt, Regan EM, Wilkie, Andrew OM
Publicado 2011

TCF12 microdeletion in a 72‐year‐old woman with intellectual disability

por Piard, Juliette, Rozé, Virginie, Czorny, Alain, Lenoir, Marion, Valduga, Mylène, Fenwick, Aimée L., Wilkie, Andrew O. M., Maldergem, Lionel Van
Publicado 2015

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

por Bendon, Charlotte L, Fenwick, Aimée L, Hurst, Jane A, Nürnberg, Gudrun, Nürnberg, Peter, Wall, Steven A, Wilkie, Andrew OM, Johnson, David
Publicado 2012

Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome

por Zhou, Yan, Koelling, Nils, Fenwick, Aimée L., McGowan, Simon J., Calpena, Eduardo, Wall, Steven A., Smithson, Sarah F., Wilkie, Andrew O.M., Twigg, Stephen R.F.
Publicado 2018

Homozygous SALL1 Mutation Causes a Novel Multiple Congenital Anomaly—Mental Retardation Syndrome

por Vodopiutz, Julia, Zoller, Heinz, Fenwick, Aimée L., Arnhold, Richard, Schmid, Max, Prayer, Daniela, Müller, Thomas, Repa, Andreas, Pollak, Arnold, Aufricht, Christoph, Wilkie, Andrew O.M., Janecke, Andreas R.
Publicado 2013

Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome

por Fenwick, Aimee L, Goos, Jacqueline AC, Rankin, Julia, Lord, Helen, Lester, Tracy, Hoogeboom, A Jeannette M, van den Ouweland, Ans MW, Wall, Steven A, Mathijssen, Irene MJ, Wilkie, Andrew OM
Publicado 2014

Development of Erf-Mediated Craniosynostosis and Pharmacological Amelioration

por Vogiatzi, Angeliki, Keklikoglou, Kleoniki, Makris, Konstantinos, Argyrou, Dionysia Stamatia, Zacharopoulos, Athanasios, Sotiropoulou, Varvara, Parthenios, Nikolaos, Gkikas, Angelos, Kokkori, Maria, Richardson, Melodie S. W., Fenwick, Aimée L., Archontidi, Sofia, Arvanitidis, Christos, Robertson, Jeremy, Parthenios, John, Zacharakis, Giannis, Twigg, Stephen R. F., Wilkie, Andrew O. M., Mavrothalassitis, George
Publicado 2023

ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome

por Glass, Graeme E., O'Hara, Justine, Canham, Natalie, Cilliers, Deirdre, Dunaway, David, Fenwick, Aimee L., Jeelani, Noor‐Owase, Johnson, David, Lester, Tracy, Lord, Helen, Morton, Jenny E. V., Nishikawa, Hiroshi, Noons, Peter, Schwiebert, Kemmy, Shipster, Caroleen, Taylor‐Beadling, Alison, Twigg, Stephen R. F., Vasudevan, Pradeep, Wall, Steven A., Wilkie, Andrew O. M., Wilson, Louise C.
Publicado 2019

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12‐Related Craniosynostosis

por Goos, Jacqueline A.C., Fenwick, Aimee L., Swagemakers, Sigrid M.A., McGowan, Simon J., Knight, Samantha J.L., Twigg, Stephen R.F., Hoogeboom, A. Jeannette M., van Dooren, Marieke F., Magielsen, Frank J., Wall, Steven A., Mathijssen, Irene M.J., Wilkie, Andrew O.M., van der Spek, Peter J., van den Ouweland, Ans M.W.
Publicado 2016

Diagnostic value of exome and whole genome sequencing in craniosynostosis

por Miller, Kerry A, Twigg, Stephen R F, McGowan, Simon J, Phipps, Julie M, Fenwick, Aimée L, Johnson, David, Wall, Steven A, Noons, Peter, Rees, Katie E M, Tidey, Elizabeth A, Craft, Judith, Taylor, John, Taylor, Jenny C, Goos, Jacqueline A C, Swagemakers, Sigrid M A, Mathijssen, Irene M J, van der Spek, Peter J, Lord, Helen, Lester, Tracy, Abid, Noina, Cilliers, Deirdre, Hurst, Jane A, Morton, Jenny E V, Sweeney, Elizabeth, Weber, Astrid, Wilson, Louise C, Wilkie, Andrew O M
Publicado 2017

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

por Taylor, Jenny C, Martin, Hilary C, Lise, Stefano, Broxholme, John, Cazier, Jean-Baptiste, Rimmer, Andy, Kanapin, Alexander, Lunter, Gerton, Fiddy, Simon, Allan, Chris, Aricescu, A. Radu, Attar, Moustafa, Babbs, Christian, Becq, Jennifer, Beeson, David, Bento, Celeste, Bignell, Patricia, Blair, Edward, Buckle, Veronica J, Bull, Katherine, Cais, Ondrej, Cario, Holger, Chapel, Helen, Copley, Richard R, Cornall, Richard, Craft, Jude, Dahan, Karin, Davenport, Emma E, Dendrou, Calliope, Devuyst, Olivier, Fenwick, Aimée L, Flint, Jonathan, Fugger, Lars, Gilbert, Rodney D, Goriely, Anne, Green, Angie, Greger, Ingo H., Grocock, Russell, Gruszczyk, Anja V, Hastings, Robert, Hatton, Edouard, Higgs, Doug, Hill, Adrian, Holmes, Chris, Howard, Malcolm, Hughes, Linda, Humburg, Peter, Johnson, David, Karpe, Fredrik, Kingsbury, Zoya, Kini, Usha, Knight, Julian C, Krohn, Jonathan, Lamble, Sarah, Langman, Craig, Lonie, Lorne, Luck, Joshua, McCarthy, Davis, McGowan, Simon J, McMullin, Mary Frances, Miller, Kerry A, Murray, Lisa, Németh, Andrea H, Nesbit, M Andrew, Nutt, David, Ormondroyd, Elizabeth, Oturai, Annette Bang, Pagnamenta, Alistair, Patel, Smita Y, Percy, Melanie, Petousi, Nayia, Piazza, Paolo, Piret, Sian E, Polanco-Echeverry, Guadalupe, Popitsch, Niko, Powrie, Fiona, Pugh, Chris, Quek, Lynn, Robbins, Peter A, Robson, Kathryn, Russo, Alexandra, Sahgal, Natasha, van Schouwenburg, Pauline A, Schuh, Anna, Silverman, Earl, Simmons, Alison, Sørensen, Per Soelberg, Sweeney, Elizabeth, Taylor, John, Thakker, Rajesh V, Tomlinson, Ian, Trebes, Amy, Twigg, Stephen RF, Uhlig, Holm H, Vyas, Paresh, Vyse, Tim, Wall, Steven A, Watkins, Hugh, Whyte, Michael P, Witty, Lorna, Wright, Ben, Yau, Chris, Buck, David, Humphray, Sean, Ratcliffe, Peter J, Bell, John I, Wilkie, Andrew OM, Bentley, David, Donnelly, Peter, McVean, Gilean
Publicado 2015