A Genetic-Pathophysiological Framework for Craniosynostosis

by Twigg, Stephen R.F., Wilkie, Andrew O.M.
Published in Am J Hum Genet (2015)

New insights into craniofacial malformations

by Twigg, Stephen R.F., Wilkie, Andrew O.M.
Published in Hum Mol Genet (2015)

Hearing loss in a mouse model of Muenke syndrome

by Mansour, Suzanne L., Twigg, Stephen R.F., Freeland, Rowena M., Wall, Steven A., Li, Chaoying, Wilkie, Andrew O.M.
Published 2009

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

by Rimmer, Andy, Phan, Hang, Mathieson, Iain, Iqbal, Zamin, Twigg, Stephen R F, Wilkie, Andrew O M, McVean, Gil, Lunter, Gerton
Published in Nat Genet (2014)

Gastrointestinal disorders in Curry–Jones syndrome: Clinical and molecular insights from an affected newborn

by Wigby, Kristen, Twigg, Stephen R. F., Broderick, Ryan, Davenport, Katherine P., Wilkie, Andrew O. M., Bickler, Stephen W., Jones, Marilyn C.
Published in Am J Med Genet A (2017)

Erf Affects Commitment and Differentiation of Osteoprogenitor Cells in Cranial Sutures via the Retinoic Acid Pathway

by Vogiatzi, Angeliki, Baltsavia, Ismini, Dialynas, Emmanuel, Theodorou, Vasiliki, Zhou, Yan, Deligianni, Elena, Iliopoulos, Ioannis, Wilkie, Andrew O. M., Twigg, Stephen R. F., Mavrothalassitis, George
Published in Mol Cell Biol (2021)

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

by Twigg, Stephen R. F., Kan, Rui, Babbs, Christian, Bochukova, Elena G., Robertson, Stephen P., Wall, Steven A., Morriss-Kay, Gillian M., Wilkie, Andrew O. M.
Published 2004

Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5′UTR of EFNB1

by Romanelli Tavares, Vanessa L., Kague, Erika, Musso, Camila M., Alegria, Thiago G.P., Freitas, Renato S., Bertola, Debora R., Twigg, Stephen R.F., Passos-Bueno, Maria R.
Published in Mol Syndromol (2019)

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

by 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 Hum Mutat (2018)

Prevalence and complications of single gene and chromosomal disorders in craniosynostosis

by Wilkie, Andrew O.M., Byren, Jo C., Hurst, Jane A., Jayamohan, Jayaratnam, Johnson, David, Knight, Samantha J. L., Lester, Tracy, Richards, Peter G., Twigg, Stephen R. F., Wall, Steven A.
Published 2010

Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

by Belaya, Katsiaryna, Finlayson, Sarah, Slater, Clarke R., Cossins, Judith, Liu, Wei Wei, Maxwell, Susan, McGowan, Simon J., Maslau, Siarhei, Twigg, Stephen R.F., Walls, Timothy J., Pascual Pascual, Samuel I., Palace, Jacqueline, Beeson, David
Published 2012

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder

by Babbs, Christian, Lloyd, Deborah, Pagnamenta, Alistair T, Twigg, Stephen R F, Green, Joanne, McGowan, Simon J, Mirza, Ghazala, Naples, Rebecca, Sharma, Vikram P, Volpi, Emanuela V, Buckle, Veronica J, Wall, Steven A, Knight, Samantha J L, Parr, Jeremy R, Wilkie, Andrew O M
Published 2014

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans

by 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 Hum Mol Genet (2017)

Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function

by 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
Published in Haematologica (2019)

Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis

by Kan, Shih-hsin, Elanko, Navaratnam, Johnson, David, Cornejo-Roldan, Laura, Cook, Jackie, Reich, Elsa W., Tomkins, Susan, Verloes, Alain, Twigg, Stephen R. F., Rannan-Eliya, Sahan, McDonald-McGinn, Donna M., Zackai, Elaine H., Wall, Steven A., Muenke, Maximilian, Wilkie, Andrew O. M.
Published 2002

Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene

by Twigg, Stephen R.F., Versnel, Sarah L., Nürnberg, Gudrun, Lees, Melissa M., Bhat, Meenakshi, Hammond, Peter, Hennekam, Raoul C.M., Hoogeboom, A. Jeannette M., Hurst, Jane A., Johnson, David, Robinson, Alexis A., Scambler, Peter J., Gerrelli, Dianne, Nürnberg, Peter, Mathijssen, Irene M.J., Wilkie, Andrew O.M.
Published 2009

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders

by Calpena, Eduardo, Wurmser, Maud, McGowan, Simon J, Atique, Rodrigo, Bertola, Débora R, Cunningham, Michael L, Gustafson, Jonas A, Johnson, David, Morton, Jenny E V, Passos-Bueno, Maria Rita, Timberlake, Andrew T, Lifton, Richard P, Wall, Steven A, Twigg, Stephen R F, Maire, Pascal, Wilkie, Andrew O M
Published in J Med Genet (2022)

Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization

by Twigg, Stephen R.F., Lloyd, Deborah, Jenkins, Dagan, Elçioglu, Nursel E., Cooper, Christopher D.O., Al-Sannaa, Nouriya, Annagür, Ali, Gillessen-Kaesbach, Gabriele, Hüning, Irina, Knight, Samantha J.L., Goodship, Judith A., Keavney, Bernard D., Beales, Philip L., Gileadi, Opher, McGowan, Simon J., Wilkie, Andrew O.M.
Published 2012

The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

by Twigg, Stephen R. F., Matsumoto, Kazuya, Kidd, Alexa M. J., Goriely, Anne, Taylor, Indira B., Fisher, Richard B., Hoogeboom, A. Jeannette M., Mathijssen, Irene M. J., Lourenço, M. Teresa, Morton, Jenny E. V., Sweeney, Elizabeth, Wilson, Louise C., Brunner, Han G., Mulliken, John B., Wall, Steven A., Wilkie, Andrew O. M.
Published 2006

A variant in IL6ST with a selective IL-11 signaling defect in human and mouse

by Schwerd, Tobias, Krause, Freia, Twigg, Stephen R. F., Aschenbrenner, Dominik, Chen, Yin-Huai, Borgmeyer, Uwe, Müller, Miryam, Manrique, Santiago, Schumacher, Neele, Wall, Steven A., Jung, Jonathan, Damm, Timo, Glüer, Claus-Christian, Scheller, Jürgen, Rose-John, Stefan, Jones, E. Yvonne, Laurence, Arian, Wilkie, Andrew O. M., Schmidt-Arras, Dirk, Uhlig, Holm H.
Published in Bone Res (2020)