Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease von Shanks, Morag E, Downes, Susan M, Copley, Richard R, Lise, Stefano, Broxholme, John, Hudspith, Karl Az, Kwasniewska, Alexandra, Davies, Wayne Il, Hankins, Mark W, Packham, Emily R, Clouston, Penny, Seller, Anneke, Wilkie, Andrew Om, Taylor, Jenny C, Ragoussis, Jiannis, Németh, Andrea H

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Craniosynostosis von JOHNSON, David, WILKIE, Andrew Om

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Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease von Goriely, Anne, Wilkie, Andrew O.M.

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A Genetic-Pathophysiological Framework for Craniosynostosis von Twigg, Stephen R.F., Wilkie, Andrew O.M.

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Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure von Bendon, Charlotte L, Fenwick, Aimée L, Hurst, Jane A, Nürnberg, Gudrun, Nürnberg, Peter, Wall, Steven A, Wilkie, Andrew O M, Johnson, David

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Clinical genetics of craniosynostosis von Wilkie, Andrew O M, Johnson, David, Wall, Steven A

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A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome von Fenwick, Aimee L, Bowdin, Sarah C, Klatt, Regan E M, Wilkie, Andrew O M

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New insights into craniofacial malformations von Twigg, Stephen R F, Wilkie, Andrew O M

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Mutations of TCF12 , encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis von 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

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Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes von 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

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“Selfish Spermatogonial Selection”: A Novel Mechanism for the Association Between Advanced Paternal Age and Neurodevelopmental Disorders von Goriely, Anne, McGrath, John J, Hultman, Christina M, Wilkie, Andrew O.M, Malaspina, Dolores

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Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth von 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

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Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes von Maher, Geoffrey J., McGowan, Simon J., Giannoulatou, Eleni, Verrill, Clare, Goriely, Anne, Wilkie, Andrew O. M.

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Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia von Wade, Emma M., Daniel, Philip B., Jenkins, Zandra A., McInerney-Leo, Aideen, Leo, Paul, Morgan, Tim, Addor, Marie Claude, Adès, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae-Joon, Duba, Hans-Christoph, Fletcher, Elaine, Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Superti-Furga, Andrea, Veenstra-Knol, Irma, Wieczorek, Dagmar, Wilson, Louise C., Hennekam, Raoul C.M., Sutherland-Smith, Andrew J., Strom, Tim M., Wilkie, Andrew O.M., Brown, Matthew A., Duncan, Emma L., Markie, David M., Robertson, Stephen P.

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Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies von Morriss‐Kay, Gillian M., Wilkie, Andrew O. M.

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SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline von Wood, Katherine A., Tong, R Spencer, Motta, Marialetizia, Cordeddu, Viviana, Scimone, Eleanor R., Bush, Stephen J., Maxwell, Dale W., Giannoulatou, Eleni, Caputo, Viviana, Traversa, Alice, Mancini, Cecilia, Ferrero, Giovanni B., Benedicenti, Francesco, Grammatico, Paola, Melis, Daniela, Steindl, Katharina, Brunetti-Pierri, Nicola, Trevisson, Eva, Wilkie, Andrew OM, Lin, Angela E., Cormier-Daire, Valerie, Twigg, Stephen RF, Tartaglia, Marco, Goriely, Anne

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SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline von Wood, Katherine A, Tong, R Spencer, Motta, Marialetizia, Cordeddu, Viviana, Scimone, Eleanor R, Bush, Stephen J, Maxwell, Dale W, Giannoulatou, Eleni, Caputo, Viviana, Traversa, Alice, Mancini, Cecilia, Ferrero, Giovanni Battista, Benedicenti, Francesco, Grammatico, Paola, Melis, Daniela, Steindl, Katharina, Brunetti-Pierri, Nicola, Trevisson, Eva, Wilkie, Andrew OM, Lin, Angela E, Cormier-Daire, Valérie, Twigg, Stephen RF, Tartaglia, Marco, Goriely, Anne

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Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline von Giannoulatou, Eleni, McVean, Gilean, Taylor, Indira B., McGowan, Simon J., Maher, Geoffrey J., Iqbal, Zamin, Pfeifer, Susanne P., Turner, Isaac, Wright, Emma M. M. Burkitt, Shorto, Jennifer, Itani, Aysha, Turner, Karen, Gregory, Lorna, Buck, David, Meyts, Ewa Rajpert-De, Looijenga, Leendert H. J., Kerr, Bronwyn, Wilkie, Andrew O. M., Goriely, Anne

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Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study von Ormondroyd, Elizabeth, Mackley, Michael P, Blair, Edward, Craft, Jude, Knight, Julian C, Taylor, John, Taylor, Jenny C, Wilkie, Andrew Om, Watkins, Hugh

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

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