ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome
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.
Published in American journal of medical genetics. Part A (01.04.2019)
Published in American journal of medical genetics. Part A (01.04.2019)
Get full text
Journal Article
Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth
Nieminen, Pekka, Morgan, Neil V., Fenwick, Aimée L., Parmanen, Satu, Veistinen, Lotta, Mikkola, Marja L., van der Spek, Peter J., Giraud, Andrew, Judd, Louise, Arte, Sirpa, Brueton, Louise A., Wall, Steven A., Mathijssen, Irene M.J., Maher, Eamonn R., Wilkie, Andrew O.M., Kreiborg, Sven, Thesleff, Irma
Published in American journal of human genetics (15.07.2011)
Published in American journal of human genetics (15.07.2011)
Get full text
Journal Article
Diagnostic value of exome and whole genome sequencing in craniosynostosis
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
Published in Journal of medical genetics (01.04.2017)
Published in Journal of medical genetics (01.04.2017)
Get full text
Journal Article
A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome
Fenwick, Aimee L, Bowdin, Sarah C, Klatt, Regan E M, Wilkie, Andrew O M
Published in BMC medical genetics (23.09.2011)
Published in BMC medical genetics (23.09.2011)
Get full text
Journal Article
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis
Twigg, Stephen R F, Vorgia, Elena, McGowan, Simon J, Peraki, Ioanna, Fenwick, Aimée L, Sharma, Vikram P, Allegra, Maryline, Zaragkoulias, Andreas, Sadighi Akha, Elham, Knight, Samantha J L, Lord, Helen, Lester, Tracy, Izatt, Louise, Lampe, Anne K, Mohammed, Shehla N, Stewart, Fiona J, Verloes, Alain, Wilson, Louise C, Healy, Chris, Sharpe, Paul T, Hammond, Peter, Hughes, Jim, Taylor, Stephen, Johnson, David, Wall, Steven A, Mavrothalassitis, George, Wilkie, Andrew O M
Published in Nature genetics (01.03.2013)
Published in Nature genetics (01.03.2013)
Get full text
Journal Article
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Sharma, Vikram P, Fenwick, Aimée L, Brockop, Mia S, McGowan, Simon J, Goos, Jacqueline A C, Hoogeboom, A Jeannette M, Brady, Angela F, Jeelani, Nu Owase, Lynch, Sally Ann, Mulliken, John B, Murray, Dylan J, Phipps, Julie M, Sweeney, Elizabeth, Tomkins, Susan E, Wilson, Louise C, Bennett, Sophia, Cornall, Richard J, Broxholme, John, Kanapin, Alexander, Johnson, David, Wall, Steven A, van der Spek, Peter J, Mathijssen, Irene M J, Maxson, Robert E, Twigg, Stephen R F, Wilkie, Andrew O M
Published in Nature genetics (01.03.2013)
Published in Nature genetics (01.03.2013)
Get full text
Journal Article
Development of Erf-Mediated Craniosynostosis and Pharmacological Amelioration
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
Published in International journal of molecular sciences (27.04.2023)
Published in International journal of molecular sciences (27.04.2023)
Get full text
Journal Article
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans
Kim, Sharon, Twigg, Stephen R F, Scanlon, Victoria A, Chandra, Aditi, Hansen, Tyler J, Alsubait, Arwa, Fenwick, Aimee L, McGowan, Simon J, Lord, Helen, Lester, Tracy, Sweeney, Elizabeth, Weber, Astrid, Cox, Helen, Wilkie, Andrew O M, Golden, Andy, Corsi, Ann K
Published in Human molecular genetics (01.06.2017)
Published in Human molecular genetics (01.06.2017)
Get full text
Journal Article
Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome
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.
Published in Human mutation (01.10.2018)
Published in Human mutation (01.10.2018)
Get full text
Journal Article
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis
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.
Published in Human mutation (01.08.2016)
Published in Human mutation (01.08.2016)
Get full text
Journal Article
TCF12 microdeletion in a 72-year-old woman with intellectual disability
Piard, Juliette, Rozé, Virginie, Czorny, Alain, Lenoir, Marion, Valduga, Mylène, Fenwick, Aimée L., Wilkie, Andrew O. M., Maldergem, Lionel Van
Published in American journal of medical genetics. Part A (01.08.2015)
Published in American journal of medical genetics. Part A (01.08.2015)
Get full text
Journal Article
Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure
Bendon, Charlotte L, Fenwick, Aimée L, Hurst, Jane A, Nürnberg, Gudrun, Nürnberg, Peter, Wall, Steven A, Wilkie, Andrew O M, Johnson, David
Published in BMC genetics (09.11.2012)
Published in BMC genetics (09.11.2012)
Get full text
Journal Article
Diagnostic outcomes in craniofacial surgery are improved by use of next-generation dna sequencing
Sharma, Vikram P, Fenwick, Aimee L, Goos, Jacqueline A, Twigg, Stephen R.F, Wall, Steven A, Wilkie, Andrew O.M
Published in Journal of plastic, reconstructive & aesthetic surgery (01.10.2014)
Published in Journal of plastic, reconstructive & aesthetic surgery (01.10.2014)
Get full text
Journal Article
Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome
Fenwick, Aimee L, Goos, Jacqueline A C, Rankin, Julia, Lord, Helen, Lester, Tracy, Hoogeboom, A Jeannette M, van den Ouweland, Ans M W, Wall, Steven A, Mathijssen, Irene M J, Wilkie, Andrew O M
Published in BMC genetics (31.08.2014)
Published in BMC genetics (31.08.2014)
Get full text
Journal Article
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Sharma, Vikram P, Fenwick, Aimee L, Brockop, Mia S, McGowan, Simon J, Goos, Jacqueline A C, Hoogeboom, A Jeannette M, Brady, Angela F, Jeelani, Nu Owase, Lynch, Sally Ann, Mulliken, John B, Murray, Dylan J, Phipps, Julie M, Sweeney, Elizabeth, Tomkins, Susan E, Wilson, Louise C, Bennett, Sophia, Cornall, Richard J, Broxholme, John, Kanapin, Alexander, Johnson, David, Wall, Steven A, van der Spek, Peter J, Mathijssen, Irene M J, Maxson, Robert E, Twigg, Stephen R F, Wilkie, Andrew O M
Published in Nature genetics (01.10.2013)
Published in Nature genetics (01.10.2013)
Get full text
Journal Article
Mutations of TCF12 , encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Sharma, Vikram P, Fenwick, Aimée L, Brockop, Mia S, McGowan, Simon J, Goos, Jacqueline AC, Hoogeboom, A Jeannette M, Brady, Angela F, Jeelani, Owase, Lynch, Sally Ann, Mulliken, John B, Murray, Dylan J, Phipps, Julie M, Sweeney, Elizabeth, Tomkins, Susan E, Wilson, Louise C, Bennett, Sophia, Cornall, Richard J, Broxholme, John, Kanapin, Alexander, Donnelly, Peter, Johnson, David, Wall, Steven A, van der Spek, Peter J, Mathijssen, Irene MJ, Maxson, Robert E, Twigg, Stephen RF, Wilkie, Andrew OM, Prof
Published in The Lancet (British edition) (27.02.2013)
Published in The Lancet (British edition) (27.02.2013)
Get full text
Journal Article
Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome
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
Published in BMC medical genetics (31.08.2014)
Published in BMC medical genetics (31.08.2014)
Get full text
Journal Article
Homozygous SALL1 Mutation Causes a Novel Multiple Congenital Anomaly—Mental Retardation Syndrome
Vodopiutz, Julia, MD, Zoller, Heinz, MD, PhD, Fenwick, Aimée L., MPhil, Arnhold, Richard, MD, Schmid, Max, MD, Prayer, Daniela, MD, Müller, Thomas, MD, Repa, Andreas, MD, Pollak, Arnold, MD, Aufricht, Christoph, MD, Wilkie, Andrew O.M., DM, FRCP, Janecke, Andreas R., MD
Published in The Journal of pediatrics (01.03.2013)
Published in The Journal of pediatrics (01.03.2013)
Get full text
Journal Article
Contrasting the Genetic Architecture of 30 Complex Traits from Summary Association Data
Shi, Huwenbo, Kichaev, Gleb, Pasaniuc, Bogdan
Published in American journal of human genetics (07.07.2016)
Published in American journal of human genetics (07.07.2016)
Get full text
Journal Article
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Taylor, Jenny C, Martin, Hilary C, Lise, Stefano, Broxholme, John, Cazier, Jean-Baptiste, Rimmer, Andy, Kanapin, Alexander, Fiddy, Simon, Allan, Chris, Aricescu, A Radu, Babbs, Christian, Becq, Jennifer, Beeson, David, Bignell, Patricia, 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, 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, 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, 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, Vyse, Tim, Wall, Steven A, Watkins, Hugh, Whyte, Michael P, Witty, Lorna, Wright, Ben, Yau, Chris, Humphray, Sean, Ratcliffe, Peter J, Bell, John I, Wilkie, Andrew Om, Bentley, David, Donnelly, Peter, McVean, Gilean
Published in Nature genetics (01.07.2015)
Published in Nature genetics (01.07.2015)
Get full text
Journal Article