Happle–Tinschert, Curry–Jones and segmental basal cell naevus syndromes, overlapping disorders caused by somatic mutations in hedgehog signalling genes: the mosaic hedgehog spectru...

por Lovgren, M.‐L., Zhou, Y., Hrčková, G., Dallos, T., Colmenero, I., Twigg, S.R.F., Moss, C.
Publicado 2019

Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels

por Tooze, Rebecca S., Calpena, Eduardo, Weber, Astrid, Wilson, Louise C., Twigg, Stephen R. F., Wilkie, Andrew O. M.
Publicado 2023

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function

por Tooze, Rebecca S, Calpena, Eduardo, Twigg, Stephen R F, D’Arco, Felice, Wakeling, Emma L, Wilkie, Andrew O M
Publicado 2023

Hearing loss in a mouse model of Muenke syndrome

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

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

por Wigby, Kristen, Twigg, Stephen R. F., Broderick, Ryan, Davenport, Katherine P., Wilkie, Andrew O. M., Bickler, Stephen W., Jones, Marilyn C.
Publicado 2017

Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome

por Diaz-Gonzalez, Francisca, Sacedo-Gutiérrez, Javier M., Twigg, Stephen R. F., Calpena, Eduardo, Carceller-Benito, Fernando E., Parrón-Pajares, Manuel, Santos-Simarro, Fernando, Heath, Karen E.
Publicado 2023

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

por 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.
Publicado 2018

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

por Twigg, S.R.F., Ousager, L.B., Miller, K.A., Zhou, Y., Elalaoui, S.C., Sefiani, A., Bak, G.S, Hove, H., Hansen, L.K., Fagerberg, C.R., Tajir, M., Wilkie, A.O.M.
Publicado 2016

New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements

por Romanelli Tavares, Vanessa Luiza, Guimarães-Ramos, Sofia Ligia, Zhou, Yan, Masotti, Cibele, Ezquina, Suzana, Moreira, Danielle de Paula, Buermans, Henk, Freitas, Renato S, Den Dunnen, Johan T, Twigg, Stephen R F, Passos-Bueno, Maria Rita
Publicado 2022

The developing mouse coronal suture at single-cell resolution

por 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.
Publicado 2021

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

por 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
Publicado 2014

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

por 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
Publicado 2019

Development of Erf-Mediated Craniosynostosis and Pharmacological Amelioration

por 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
Publicado 2023

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

por 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
Publicado 2022

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

por 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.
Publicado 2020

A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis

por Goos, Jacqueline A C, Vogel, Walter K, Mlcochova, Hana, Millard, Christopher J, Esfandiari, Elahe, Selman, Wisam H, Calpena, Eduardo, Koelling, Nils, Carpenter, Evan L, Swagemakers, Sigrid M A, van der Spek, Peter J, Filtz, Theresa M, Schwabe, John W R, Iwaniec, Urszula T, Mathijssen, Irene M J, Leid, Mark, Twigg, Stephen R F
Publicado 2019

ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome

por 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.
Publicado 2019

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12‐Related Craniosynostosis

por 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.
Publicado 2016

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

por Twigg, Stephen R.F., Forecki, Jennifer, Goos, Jacqueline A.C., Richardson, Ivy C.A., Hoogeboom, A. Jeannette M., van den Ouweland, Ans M.W., Swagemakers, Sigrid M.A., Lequin, Maarten H., Van Antwerp, Daniel, McGowan, Simon J., Westbury, Isabelle, Miller, Kerry A., Wall, Steven A., van der Spek, Peter J., Mathijssen, Irene M.J., Pauws, Erwin, Merzdorf, Christa S., Wilkie, Andrew O.M.
Publicado 2015

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

por Hamilton, Mark J, Caswell, Richard C, Canham, Natalie, Cole, Trevor, Firth, Helen V, Foulds, Nicola, Heimdal, Ketil, Hobson, Emma, Houge, Gunnar, Joss, Shelagh, Kumar, Dhavendra, Lampe, Anne Katrin, Maystadt, Isabelle, McKay, Victoria, Metcalfe, Kay, Newbury-Ecob, Ruth, Park, Soo-Mi, Robert, Leema, Rustad, Cecilie F, Wakeling, Emma, Wilkie, Andrew O M, Study, The Deciphering Developmental Disorders, Twigg, Stephen R F, Suri, Mohnish
Publicado 2018