A Genetic-Pathophysiological Framework for Craniosynostosis
Twigg, Stephen R.F., Wilkie, Andrew O.M.
Published in American journal of human genetics (03.09.2015)
Published in American journal of human genetics (03.09.2015)
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“Selfish Spermatogonial Selection”: A Novel Mechanism for the Association Between Advanced Paternal Age and Neurodevelopmental Disorders
Goriely, Anne, McGrath, John J, Hultman, Christina M, Wilkie, Andrew O.M, Malaspina, Dolores
Published in American Journal of Psychiatry (01.06.2013)
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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome
Twigg, Stephen R.F., Hufnagel, Robert B., Miller, Kerry A., Zhou, Yan, McGowan, Simon J., Taylor, John, Craft, Jude, Taylor, Jenny C., Santoro, Stephanie L., Huang, Taosheng, Hopkin, Robert J., Brady, Angela F., Clayton-Smith, Jill, Clericuzio, Carol L., Grange, Dorothy K., Groesser, Leopold, Hafner, Christian, Horn, Denise, Temple, I. Karen, Dobyns, William B., Curry, Cynthia J., Jones, Marilyn C., Wilkie, Andrew O.M.
Published in American journal of human genetics (02.06.2016)
Published in American journal of human genetics (02.06.2016)
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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)
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Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications
Rimmer, Andy, Phan, Hang, Mathieson, Iain, Iqbal, Zamin, Twigg, Stephen R F, Wilkie, Andrew O M, McVean, Gil, Lunter, Gerton
Published in Nature genetics (01.08.2014)
Published in Nature genetics (01.08.2014)
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Clinical genetics of craniosynostosis
Wilkie, Andrew O M, Johnson, David, Wall, Steven A
Published in Current opinion in pediatrics (01.12.2017)
Published in Current opinion in pediatrics (01.12.2017)
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Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
Jeffery, Steve, Afzal, Ali R, Rajab, Anna, Fenske, Christiane D, Oldridge, Michael, Elanko, Navaratnam, Ternes-Pereira, Eliana, Tüysüz, Beyhan, Murday, Victoria A, Patton, Michael A, Wilkie, Andrew O.M
Published in Nature genetics (01.08.2000)
Published in Nature genetics (01.08.2000)
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Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification
Wilkie, Andrew O.M, Tang, Zequn, Elanko, Navaratnam, Walsh, Sinead, Twigg, Stephen R.F, Hurst, Jane A, Wall, Steven A, Chrzanowska, Krystyna H, Maxson, Robert E
Published in Nature genetics (01.04.2000)
Published in Nature genetics (01.04.2000)
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A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis
Schwerd, Tobias, Twigg, Stephen R F, Aschenbrenner, Dominik, Manrique, Santiago, Miller, Kerry A, Taylor, Indira B, Capitani, Melania, McGowan, Simon J, Sweeney, Elizabeth, Weber, Astrid, Chen, Liye, Bowness, Paul, Riordan, Andrew, Cant, Andrew, Freeman, Alexandra F, Milner, Joshua D, Holland, Steven M, Frede, Natalie, Müller, Miryam, Schmidt-Arras, Dirk, Grimbacher, Bodo, Wall, Steven A, Jones, E Yvonne, Wilkie, Andrew O M, Uhlig, Holm H
Published in The Journal of experimental medicine (04.09.2017)
Published in The Journal of experimental medicine (04.09.2017)
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Dominant mutations in ROR2 , encoding an orphan receptor tyrosine kinase, cause brachydactyly type B
Mansour, Sahar, Pollitt, Christine, Kimble, Robert B, Maringa, Monika, Oldridge, Michael, M Fortuna, Ana, Valenzuela, David M, DeChiara, Thomas M, Wilkie, Andrew O.M, Propping, Peter, Yancopoulos, George D
Published in Nature genetics (01.03.2000)
Published in Nature genetics (01.03.2000)
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Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes
Maher, Geoffrey J, Ralph, Hannah K, Ding, Zhihao, Koelling, Nils, Mlcochova, Hana, Giannoulatou, Eleni, Dhami, Pawan, Paul, Dirk S, Stricker, Stefan H, Beck, Stephan, McVean, Gilean, Wilkie, Andrew O M, Goriely, Anne
Published in Genome research (01.12.2018)
Published in Genome research (01.12.2018)
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Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
Wilkie, Andrew O.M, Wall, Steven A, Sugayama, Sofia M, Salamanca, Alberto, Kutílek, Stepán, Mavrogiannis, Lampros A, Baxová, Alica, Morriss-Kay, Gillian M, Antonopoulou, Ileana, Kim, Chong A
Published in Nature genetics (01.01.2001)
Published in Nature genetics (01.01.2001)
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Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
Rutland, Paul, Pulleyn, Louise J, Reardon, William, Baraitser, Michael, Hayward, Richard, Jones, Barry, Malcolm, Sue, Winter, Robin M, Oldridge, Michael, Slaney, Sarah F, Poole, Michael D, Wilkie, Andrew O.M
Published in Nature genetics (01.02.1995)
Published in Nature genetics (01.02.1995)
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Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis
Fenwick, Aimee L., Kliszczak, Maciej, Cooper, Fay, Murray, Jennie, Sanchez-Pulido, Luis, Twigg, Stephen R.F., Goriely, Anne, McGowan, Simon J., Miller, Kerry A., Taylor, Indira B., Logan, Clare, Bozdogan, Sevcan, Danda, Sumita, Dixon, Joanne, Elsayed, Solaf M., Elsobky, Ezzat, Gardham, Alice, Hoffer, Mariette J.V., Koopmans, Marije, McDonald-McGinn, Donna M., Santen, Gijs W.E., Savarirayan, Ravi, de Silva, Deepthi, Vanakker, Olivier, Wall, Steven A., Wilson, Louise C., Yuregir, Ozge Ozalp, Zackai, Elaine H., Ponting, Chris P., Jackson, Andrew P., Wilkie, Andrew O.M., Niedzwiedz, Wojciech, Bicknell, Louise S.
Published in American journal of human genetics (07.07.2016)
Published in American journal of human genetics (07.07.2016)
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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)
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De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder
Calpena, Eduardo, Hervieu, Alexia, Kaserer, Teresa, Swagemakers, Sigrid M.A., Goos, Jacqueline A.C., Popoola, Olajumoke, Ortiz-Ruiz, Maria Jesus, Barbaro-Dieber, Tina, Bownass, Lucy, Brilstra, Eva H., Brimble, Elise, Foulds, Nicola, Grebe, Theresa A., Harder, Aster V.E., Lees, Melissa M., Monaghan, Kristin G., Newbury-Ecob, Ruth A., Ong, Kai-Ren, Osio, Deborah, Reynoso Santos, Francis Jeshira, Ruzhnikov, Maura R.Z., Telegrafi, Aida, van Binsbergen, Ellen, van Dooren, Marieke F., van der Spek, Peter J., Blagg, Julian, Twigg, Stephen R.F., Mathijssen, Irene M.J., Clarke, Paul A., Wilkie, Andrew O.M.
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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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)
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The Drosophila homologue of MEGF8 is essential for early development
Lloyd, Deborah L, Toegel, Markus, Fulga, Tudor A, Wilkie, Andrew O M
Published in Scientific reports (08.06.2018)
Published in Scientific reports (08.06.2018)
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