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Stephen R.F. Twigg

John Radcliffe Hospital

44H指数
109论文数
7.9K被引数
收录论文 72
发表时间
Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling利用患者来源的诱导多能干细胞和小鼠模型评估颅缝早闭中独特染色体变异的致病意义
err2026-09-08
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errDagmara Korona; Akiko Soneda Hashimoto; Yang Pei; Eduardo Calpena; Jackie Sloane-Stanley; Simone G. Riva; Ron Schwessinger; Francesca Forzano; Satyan Chintawar; Galbha Duggal; Steven A. Wall; Jim R. Hughes; Stephen R.F. Twigg; Andrew O.M. Wilkie
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Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications探索Bionano光学基因组图谱技术在解析连锁散在染色体重复的替代结构方面的尺寸限制
err2025-11-17
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errYang Pei; Eduardo Calpena; Jill M. Brown; Ron Schwessinger; Lucy Platts; Simon J. McGowan; Tazeen Ashraf; Francesca Forzano; Jane A. Hurst; Wendy D. Jones; Ajoy Sarkar; Richard J. Gibbons; Stephen R. F. Twigg; Andrew O. M. Wilkie
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Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency双等位基因FGF4变异与胸肌发育不良和呼吸衰竭相关
err2025-04-22
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errLaura M. Watts; Esther Kinning; Donald R. Latner; Marla Johnston; Jessica Patrick-Esteve; Gregory M. Cooper; Stephen R. F. Twigg; Alistair T. Pagnamenta; Jenny C. Taylor
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BCL11B-related disease: a single phenotypic entity?
err2025-03-01
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errVedovato-dos-Santos, J. Heather; Tooze, Rebecca S.; Sithambaram, Sivagamy; Mccann, Emma; Alanay, Yasemin; Dogan, Ozlem A.; Kilercik, Meltem; Bingol, Aysen; Ozek, Memet M.; Johnson, David; Nellaker, Christoffer; Wilkie, Andrew O. M.; Twigg, Stephen R. F.
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Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus
err2024-10-01
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errMaroofian, Reza; Pagnamenta, Alistair T.; Navabazam, Alireza; Schwessinger, Ron; Roberts, Hannah E.; Lopopolo, Maria; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Haerian, Alireza; Soltanianzadeh, Mojtaba; Kooshki, Mohammad Hadi Noori; Knight, Samantha J. L.; Miller, Kerry A.; McGowan, Simon J.; Chatron, Nicolas; Timberlake, Andrew T.; Melo, Uira Souto; Mundlos, Stefan; Buck, David; Twigg, Stephen R. F.; Taylor, Jenny C.; Wilkie, Andrew O. M.; Calpena, Eduardo
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SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline导致Myhre综合征的SMAD4突变在男性生殖系中处于阳性选择状态
err2024-09-01
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errWood, 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 O. M.; Lin, Angela E.; Cormier-Daire, Valerie; Twigg, Stephen R. F.; Tartaglia, Marco; Goriely, Anne
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The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients
err2024-05-17
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errWatts, Laura M.; Bertoli, Marta; Attie-Bitach, Tania; Roux, Natalie; Rausell, Antonio; Paschal, Cate R.; Zambonin, Jessica L.; Curry, Cynthia J.; Martin, Blanche; Tooze, Rebecca S.; Hawkes, Lara; Kini, Usha; Twigg, Stephen R. F.; Wilkie, Andrew O. M.
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BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome
err2024-01-31
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errMiller, Kerry A.; Cruz Walma, David A.; Pinkas, Daniel M.; Tooze, Rebecca S.; Bufton, Joshua C.; Richardson, William; Manning, Charlotte E.; Hunt, Alice E.; Cros, Julien; Hartill, Verity; Parker, Michael J.; Mcgowan, Simon J.; Twigg, Stephen R. F.; Chalk, Rod; Staunton, David; Johnson, David; Wilkie, Andrew O. M.; Bullock, Alex N.
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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
err2023-11-09
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errPagnamenta, Alistair T.; Camps, Carme; Giacopuzzi, Edoardo; Taylor, John M.; Hashim, Mona; Calpena, Eduardo; Kaisaki, Pamela J.; Hashimoto, Akiko; Yu, Jing; Sanders, Edward; Schwessinger, Ron; Hughes, Jim R.; Lunter, Gerton; Dreau, Helene; Ferla, Matteo; Lange, Lukas; Kesim, Yesim; Ragoussis, Vassilis; Vavoulis, Dimitrios V.; Allroggen, Holger; Ansorge, Olaf; Babbs, Christian; Banka, Siddharth; Banos-Pinero, Benito; Beeson, David; Ben-Ami, Tal; Bennett, David L.; Bento, Celeste; Blair, Edward; Brasch-Andersen, Charlotte; Bull, Katherine R.; Cario, Holger; Cilliers, Deirdre; Conti, Valerio; Davies, E. Graham; Dhalla, Fatima; Dacal, Beatriz Diez; Dong, Yin; Dunford, James E.; Guerrini, Renzo; Harris, Adrian L.; Hartley, Jane; Hollander, Georg; Javaid, Kassim; Kane, Maureen; Kelly, Deirdre; Kelly, Dominic; Knight, Samantha J. L.; Kreins, Alexandra Y.; Kvikstad, Erika M.; Langman, Craig B.; Lester, Tracy; Lines, Kate E.; Lord, Simon R.; Lu, Xin; Mansour, Sahar; Manzur, Adnan; Maroofian, Reza; Marsden, Brian; Mason, Joanne; McGowan, Simon J.; Mei, Davide; Mlcochova, Hana; Murakami, Yoshiko; Nemeth, Andrea H.; Okoli, Steven; Ormondroyd, Elizabeth; Ousager, Lilian Bomme; Palace, Jacqueline; Patel, Smita Y.; Pentony, Melissa M.; Pugh, Chris; Rad, Aboulfazl; Ramesh, Archana; Riva, Simone G.; Roberts, Irene; Roy, Noemi; Salminen, Outi; Schilling, Kyleen D.; Scott, Caroline; Sen, Arjune; Smith, Conrad; Stevenson, Mark; Thakker, Rajesh V.; Twigg, Stephen R. F.; Uhlig, Holm H.; van Wijk, Richard; Vona, Barbara; Wall, Steven; Wang, Jing; Watkins, Hugh; Zak, Jaroslav; Schuh, Anna H.; Kini, Usha; Wilkie, Andrew O. M.; Popitsch, Niko; Taylor, Jenny C.
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Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance
err2023-09-01
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errTooze, Rebecca S.; Miller, Kerry A.; Swagemakers, Sigrid M. A.; Calpena, Eduardo; McGowan, Simon J.; Boute, Odile; Collet, Corinne; Johnson, David; Laffargue, Fanny; de Leeuw, Nicole; Morton, Jenny V.; Noons, Peter; Ockeloen, Charlotte W.; Phipps, Julie M.; Tan, Tiong Yang; Timberlake, Andrew T.; Vanlerberghe, Clemence; Wall, Steven A.; Weber, Astrid; Wilson, Louise C.; Zackai, Elaine H.; Mathijssen, Irene M. J.; Twigg, Stephen R. F.; Wilkie, Andrew O. M.
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Erf Affects Commitment and Differentiation of Osteoprogenitor Cells in Cranial Sutures via the Retinoic Acid Pathway
err2023-03-03
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errVogiatzi, Angeliki; Baltsavia, Ismini; Dialynas, Emmanuel; Theodorou, Vasiliki; Zhou, Yan; Deligianni, Elena; Iliopoulos, Ioannis; Wilkie, Andrew O. M.; Twigg, Stephen R. F.; Mavrothalassitis, George
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Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function
err2022-12-21
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errTooze, Rebecca S.; Calpena, Eduardo; Twigg, Stephen R. F.; D'Arco, Felice; Wakeling, Emma L.; Wilkie, Andrew O. M.
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Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
err2021-12-01
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errHyder, Zerin; Calpena, Eduardo; Pei, Yang; Tooze, Rebecca S.; Brittain, Helen; Twigg, Stephen R. F.; Cilliers, Deirdre; Morton, Jenny E., V; McCann, Emma; Weber, Astrid; Wilson, Louise C.; Douglas, Andrew G. L.; McGowan, Ruth; Need, Anna; Bond, Andrew; Tavares, Ana Lisa Taylor; Thomas, Ellen R. A.; Hill, Susan L.; Deans, Zandra C.; Boardman-Pretty, Freya; Caulfield, Mark; Scott, Richard H.; Wilkie, Andrew O. M.
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New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements
err2021-11-08
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errTavares, Vanessa Luiza Romanelli; Guimaraes-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
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The developing mouse coronal suture at single-cell resolution
err2021-08-10
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errFarmer, 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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Dissection of contiguous gene effects for deletions around ERF on chromosome 19
err2021-05-16
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errCalpena, 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.
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Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders
err2021-01-12
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errCalpena, Eduardo; Wurmser, Maud; McGowan, Simon J.; Atique, Rodrigo; Bertola, Debora 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.
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SMAD6 variants in craniosynostosis: genotype and phenotype evaluation (vol 33, pg 751, 2020)
err2020-09-01
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errCalpena, Eduardo; Cuellar, Araceli; Bala, Krithi; Swagemakers, Sigrid M. A.; Koelling, Nils; McGowan, Simon J.; Phipps, Julie M.; Balasubramanian, Meena; Cunningham, Michael L.; Douzgou, Sofia; Lattanzi, Wanda; Morton, Jenny E. V.; Shears, Deborah; Weber, Astrid; Wilson, Louise C.; Lord, Helen; Lester, Tracy; Johnson, David; Wall, Steven A.; Twigg, Stephen R. F.; Mathijssen, Irene M. J.; Boardman-Pretty, Freya; Boyadjiev, Simeon A.; Wilkie, Andrew O. M.
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