Works matching AU Twigg, Stephen R. F.

Results: 24

The power of mouse models in the diagnostic odyssey of patients with rare congenital anomalies.

Published in:

Mammalian Genome, 2025, v. 36, n. 2, p. 354, doi. 10.1007/s00335-025-10114-2

By:

Twigg, Stephen R. F.;
Greene, Nicholas D. E.;
Henderson, Deborah J.;
Mill, Pleasantine;
Liu, Karen J.

Publication type:

Article

Dissection of contiguous gene effects for deletions around ERF on chromosome 19.

Published in:

Human Mutation, 2021, v. 42, n. 7, p. 811, doi. 10.1002/humu.24213

By:

Calpena, Eduardo;
McGowan, Simon J.;
Blanco Kelly, Fiona;
Boudry‐Labis, Elise;
Dieux‐Coeslier, Anne;
Harrison, Rachel;
Johnson, Diana;
Lachlan, Katherine;
Morton, Jenny E. V.;
Stewart, Helen;
Vasudevan, Pradeep;
Twigg, Stephen R. F.;
Wilkie, Andrew O. M.

Publication type:

Article

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

Published in:

Human Mutation, 2018, v. 39, n. 10, p. 1360, doi. 10.1002/humu.23598

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.

Publication type:

Article

A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark.

Published in:

Genes, 2024, v. 15, n. 7, p. 925, doi. 10.3390/genes15070925

By:

Pei, Yang;
Tanguy, Melanie;
Giess, Adam;
Dixit, Abhijit;
Wilson, Louise C.;
Gibbons, Richard J.;
Twigg, Stephen R. F.;
Elgar, Greg;
Wilkie, Andrew O. M.

Publication type:

Article

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

Published in:

Genes, 2023, v. 14, n. 3, p. 615, doi. 10.3390/genes14030615

By:

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

Publication type:

Article

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 7, p. 884, doi. 10.1038/sj.ejhg.5201633

By:

Vasudevan, Pradeep C.;
Twigg, Stephen R. F.;
Mulliken, John B.;
Cook, Jackie A.;
Quarrell, Oliver W. J.;
Wilkie, Andrew O. M.

Publication type:

Article

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

Published in:

Nature Genetics, 2014, v. 46, n. 8, p. 912, doi. 10.1038/ng.3036

By:

Rimmer, Andy;
Phan, Hang;
Mathieson, Iain;
Iqbal, Zamin;
Twigg, Stephen R F;
Wilkie, Andrew O M;
McVean, Gil;
Lunter, Gerton

Publication type:

Article

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 308, doi. 10.1038/ng.2539

By:

Twigg, Stephen R F;
Vorgia, Elena;
McGowan, Simon J;
Peraki, Ioanna;
Fenwick, Aimée L;
Sharma, Vikram P;
Allegra, Maryline;
Zaragkoulias, Andreas;
Akha, Elham Sadighi;
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

Publication type:

Article

The developing mouse coronal suture at single-cell resolution.

Published in:

Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24917-9

By:

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 Jr., Robert E.;
Wilkie, Andrew O. M.;
Crump, J. Gage;
Twigg, Stephen R. F.

Publication type:

Article

LETTERS TO THE EDITOR.

Published in:

2010

By:

Twigg, Stephen R. F.;
Wilkie, Andrew O. M.;
Versnel, Sarah L.;
Mathijssen, Irene M. J.

Publication type:

Letter

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

Published in:

Human Molecular Genetics, 2019, v. 28, n. 15, p. 2501, doi. 10.1093/hmg/ddz072

By:

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;
Spek, Peter J van der;
Filtz, Theresa M;
Schwabe, John W R;
Iwaniec, Urszula T;
Mathijssen, Irene M J;
Leid, Mark;
Twigg, Stephen R F

Publication type:

Article

A point mutation in the ion conduction pore of AMP A receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 20, p. 3869, doi. 10.1093/hmg/ddx270

By:

Davies, Benjamin;
Brown, Laurence A.;
Cais, Ondrej;
Watson, Jake;
Clayton, Amber J.;
Chang, Veronica T.;
Biggs, Daniel;
Preece, Christopher;
Hernandez-Pliego, Polinka;
Krohn, Jon;
Bhomra, Amarjit;
Twigg, Stephen R. F.;
Rimmer, Andrew;
Kanapin, Alexander;
Sen, Arjune;
Zaiwalla, Zenobia;
McVean, Gil;
Foster, Russell;
Donnelly, Peter;
Taylor, Jenny C.

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2017, v. 26, n. 11, p. 2118, doi. 10.1093/hmg/ddx107

By:

Sharon Kim;
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.

Publication type:

Article

New insights into craniofacial malformations.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. R50, doi. 10.1093/hmg/ddv228

By:

Twigg, Stephen R. F.;
Wilkie, Andrew O. M.

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 615, doi. 10.1002/ajmg.a.61073

By:

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.

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1586, doi. 10.1002/ajmg.a.38232

By:

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

Publication type:

Article

Conserved use of a non-canonical 5′ splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 685, doi. 10.1093/hmg/7.4.685

By:

Twigg, Stephen R. F.;
Burns, Helen D.;
Oldridge, Michael;
Heath, John K.;
Wilkie, Andrew O. M.

Publication type:

Article

Genotype-Phenotype Correlation for Nucleotide Substitutions in the IgII-IgIII Linker of FGFR2.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 137, doi. 10.1093/hmg/6.1.137

By:

Oldridge, Michael;
Lunt, Peter W.;
Zackai, Elaine H.;
McDonald-McGinn, Donna M.;
Muenke, Maximilian;
Moloney, Dominique M.;
Twigg, Stephen R. F.;
Heath, John K.;
Howard, Timothy D.;
Hoganson, George;
Gagnon, Deborah M.;
Jabs, Ethylin Wang;
Wilkie, Andrew O. M.

Publication type:

Article

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

Published in:

Bone Research, 2020, v. 8, n. 1, p. 1, doi. 10.1038/s41413-020-0098-z

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.

Publication type:

Article

Editorial: Advances in craniosynostosis—Basic science to clinical practice.

Published in:

Journal of Anatomy, 2024, v. 245, n. 6, p. 813, doi. 10.1111/joa.14126

By:

Moazen, Mehran;
Twigg, Stephen R. F.

Publication type:

Article

Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non‐syndromic sagittal and metopic craniosynostosis.

Published in:

Journal of Anatomy, 2024, v. 245, n. 6, p. 874, doi. 10.1111/joa.14052

By:

Walton, Isaac S.;
McCann, Emma;
Weber, Astrid;
Morton, Jenny E. V.;
Noons, Peter;
Wilson, Louise C.;
Ching, Rosanna C.;
Cilliers, Deirdre;
Johnson, David;
Phipps, Julie M.;
Shears, Deborah J.;
Thomas, Gregory P. L.;
Wall, Steven A.;
Twigg, Stephen R. F.;
Wilkie, Andrew O. M.

Publication type:

Article

Development of Erf-Mediated Craniosynostosis and Pharmacological Amelioration.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 9, p. 7961, doi. 10.3390/ijms24097961

By:

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

Publication type:

Article

Skeletal analysis of the Fgfr3.

Published in:

Developmental Dynamics, 2009, v. 238, n. 2, p. 331, doi. 10.1002/dvdy.21790

By:

Twigg, Stephen R. F.;
Healy, Chris;
Babbs, Christian;
Sharpe, Jacqueline A.;
Wood, William G.;
Sharpe, Paul T.;
Morriss-Kay, Gillian M.;
Wilkie, Andrew O. M.

Publication type:

Article

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

Published in:

Molecular & Cellular Biology, 2021, v. 41, n. 8, p. 1, doi. 10.1128/MCB.00149-21

By:

Vogiatzi, Angeliki;
Baltsavia, Ismini;
Dialynas, Emmanuel;
Theodorou, Vasiliki;
Yan Zhou;
Deligianni, Elena;
Iliopoulos, Ioannis;
Wilkie, Andrew O. M.;
Twigg, Stephen R. F.;
Mavrothalassitis, George

Publication type:

Article