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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Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications von Rimmer, Andy, Phan, Hang, Mathieson, Iain, Iqbal, Zamin, Twigg, Stephen R F, Wilkie, Andrew O M, McVean, Gil, Lunter, Gerton

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Craniosynostosis von Johnson, David, Wilkie, Andrew O M

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

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Mendelian inheritance revisited: dominance and recessiveness in medical genetics von Zschocke, Johannes, Byers, Peter H., Wilkie, Andrew O. M.

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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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The developing mouse coronal suture at single-cell resolution von Farmer, D’Juan T., Mlcochova, Hana, Zhou, Yan, Koelling, Nils, Wang, Guanlin, Ashley, Neil, Bugacov, Helena, Chen, Hung-Jhen, Parvez, Riana, Tseng, Kuo-Chang, Merrill, Amy E., Maxson, Robert E., Wilkie, Andrew O. M., Crump, J. Gage, Twigg, Stephen R. F.

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

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Gregor Mendel and the concepts of dominance and recessiveness von Zschocke, Johannes, Byers, Peter H., Wilkie, Andrew O. M.

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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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A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis von 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

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Introduction: Professor Gillian Morriss‐Kay DSc von Iseki, Sachiko, Wilkie, Andrew O. M.

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A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects von Favaro, Francine P., Alvizi, Lucas, Zechi-Ceide, Roseli M., Bertola, Debora, Felix, Temis M., de Souza, Josiane, Raskin, Salmo, Twigg, Stephen R.F., Weiner, Andrea M.J., Armas, Pablo, Margarit, Ezequiel, Calcaterra, Nora B., Andersen, Gregers R., McGowan, Simon J., Wilkie, Andrew O.M., Richieri-Costa, Antonio, de Almeida, Maria L.G., Passos-Bueno, Maria Rita

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Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors von Pfeifer, Susanne P, Hansen, Ruth M S, Olesen, Inge A, Meyts, Ewa Rajpert-De, Wilkie, Andrew O M, Goriely, Anne, McGowan, Simon J, Taylor, Indira B, McVean, Gilean A T, Jacobsen, Grete Krag

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Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function von Shahin, Tala, Aschenbrenner, Dominik, Cagdas, Deniz, Bal, Sevgi Köstel, Conde, Cecilia Domínguez, Garncarz, Wojciech, Medgyesi, David, Schwerd, Tobias, Karaatmaca, Betül, Cetinkaya, Pınar Gur, Esenboga, Saliha, Twigg, Stephen R F, Cant, Andrew, Wilkie, Andrew O M, Tezcan, Ilhan, Uhlig, Holm H, Boztug, Kaan

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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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Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline von Giannoulatou, Eleni, Maher, Geoffrey J, Ding, Zhihao, Gillis, Ad J M, Dorssers, Lambert C J, Hoischen, Alexander, Rajpert-De Meyts, Ewa, McVean, Gilean, Wilkie, Andrew O M, Looijenga, Leendert H J, Goriely, Anne

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