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Steven A. Wall

leiden university - excl lumc

45H指数
206论文数
7.7K被引数
收录论文 50
发表时间
A European Multicenter Outcome Study of Perioperative Airway Management Policies following Midface Surgery in Syndromic Craniosynostosis
err2024-01-30
err1
errOAAI
errCuperus, Iris E.; Mathijssen, Irene M. J.; van Veelen, Marie-Lise C.; Bouzariouh, Anouar; Stubelius, Ingrid; Koelby, Lars; Lundborg, Christopher; Das, Sumit; Johnson, David; Wall, Steven A.; Larysz, Dawid F.; Dowgierd, Krzysztof; Koszowska, Malgorzata; Schulz, Matthias; Gratopp, Alexander; Thomale, Ulrich-Wilhelm; Vallejo, Victor Zafra; Alamillos, Marta Redondo; Vega, Ruben Ferreras; Apolito, Michela; Vergnaud, Estelle; Paternoster, Giovanna; Khonsari, Roman H.
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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
err2023-11-09
err13
errOAAI
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
err4
errOAAI
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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Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders
err2021-01-12
err8
errOAAI
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
err2
errOAAI
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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SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
err2020-09-01
err35
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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.; Boyadjiev, Simeon A.; Wilkie, Andrew O. M.
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A variant in IL6ST with a selective IL-11 signaling defect in human and mouse
err2020-06-11
err20
errOAAI
errSchwerd, Tobias; Krause, Freia; Twigg, Stephen R. F.; Aschenbrenner, Dominik; Chen, Yin-Huai; Borgmeyer, Uwe; Mueller, Miryam; Manrique, Santiago; Schumacher, Neele; Wall, Steven A.; Jung, Jonathan; Damm, Timo; Glueer, Claus-Christian; Scheller, Juergen; Rose-John, Stefan; Jones, E. Yvonne; Laurence, Arian; Wilkie, Andrew O. M.; Schmidt-Arras, Dirk; Uhlig, Holm H.
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Reply: Long-Term Results in Isolated Metopic Synostosis: The Oxford Experience over 22 Years
err2019-06-01
err0
PREAI
errNatghian, Hamidreza; Song, Marie; Jayamohan, Jayaratnam; Johnson, David; Magdum, Shailendra; Richards, Peter; Wall, Steven
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Long-Term Results in Isolated Metopic Synostosis: The Oxford Experience over 22 Years
err2018-10-01
err34
PREAI
errNatghian, Hamidreza; Song, Marie; Jayamohan, Jayaratnam; Johnson, David; Magdum, Shailendra; Richards, Peter; Wall, Steven
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Disruption of TWIST1 translation by 5′ UTR variants in Saethre-Chotzen syndrome
err2018-08-07
err11
errOAAI
errZhou, Yan; Koelling, Nils; Fenwick, Aimee L.; McGowan, Simon J.; Calpena, Eduardo; Wall, Steven A.; Smithson, Sarah F.; Wilkie, Andrew O. M.; Twigg, Stephen R. F.
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De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
err2018-06-01
err37
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errReijnders, Margot R. F.; Miller, Kerry A.; Alvi, Mohsan; Goos, Jacqueline A. C.; Lees, Melissa M.; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert B. A.; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia A. L.; Wieczorek, Dagmar; Baralle, Diana; Blair, Edward M.; Engels, Hartmut; Luedecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs W. E.; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M.; Cremer, Kirsten; Strom, Tim M.; Bird, Lynne M.; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F.; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L.; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S.; Edery, Patrick; Yap, Patrick; Terhal, Paulien A.; van der Spek, Peter J.; Lakeman, Phillis; Taylor, Rachel L.; Littlejohn, Rebecca O.; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander P. A.; Kant, Sarina G.; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid M. A.; Douzgou, Sofia; Wall, Steven A.; Kury, Sebastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J.; Twigg, Stephen R. F.; Mathijssen, Irene M. J.; Nellaker, Christoffer; Brunner, Han G.; Wilkie, Andrew O. M.
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A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis
err2017-07-26
err149
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errSchwerd, 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; Mueller, Miryam; Schmidt-Arras, Dirk; Grimbacher, Bodo; Wall, Steven A.; Jones, E. Yvonne; Wilkie, Andrew O. M.; Uhlig, Holm H.
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The Management of Trigonoscaphocephaly as a Result of Combined Metopic and Sagittal Synostosis
err2017-06-01
err8
PREAI
errDobbs, Thomas D.; Salahuddin, Omer; Jayamohan, Jayaratnam; Richards, Peter; Magdum, Shailendra; Wall, Steven A.; Johnson, David
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Diagnostic value of exome and whole genome sequencing in craniosynostosis
err2016-11-24
err101
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errMiller, Kerry A.; Twigg, Stephen R. F.; McGowan, Simon J.; Phipps, Julie M.; Fenwick, Aimee L.; Johnson, David; Wall, Steven A.; Noons, Peter; Rees, Katie E. M.; Tidey, Elizabeth A.; Craft, Judith; Taylor, John; Taylor, Jenny C.; Goos, Jacqueline A. C.; Swagemakers, Sigrid M. A.; Mathijssen, Irene M. J.; van der Spek, Peter J.; Lord, Helen; Lester, Tracy; Abid, Noina; Cilliers, Deirdre; Hurst, Jane A.; Morton, Jenny E. V.; Sweeney, Elizabeth; Weber, Astrid; Wilson, Louise C.; Wilkie, Andrew O. M.
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Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis
err2016-07-01
err103
errOAAI
errFenwick, Aimee L.; Kliszczak, Maciej; Cooper, Fay; Murray, Jennie; Sanchez-Pulido, Luis; Twigg, Stephen R. F.; Goriely, Anne; McGowan, Simon J.; Miller, Kerry A.; Taylor, Indira B.; Logan, Clare; Bozdogan, Sevcan; Danda, Sumita; Dixon, Joanne; Elsayed, Solaf M.; Elsobky, Ezzat; Gardham, Alice; Hoffer, Mariette J. V.; Koopmans, Marije; McDonald-McGinn, Donna M.; Santen, Gijs W. E.; Savarirayan, Ravi; de Silva, Deepthi; Vanakker, Olivier; Wall, Steven A.; Wilson, Louise C.; Yuregir, Ozge Ozalp; Zackai, Elaine H.; Ponting, Chris P.; Jackson, Andrew P.; Wilkie, Andrew O. M.; Niedzwiedz, Wojciech; Bicknell, Louise S.
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Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis
err2016-06-02
err22
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errGoos, 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.
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Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability
err2015-09-01
err62
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errTwigg, 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.
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Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
err2015-05-18
err289
errOAAI
errTaylor, Jenny C.; Martin, Hilary C.; Lise, Stefano; Broxholme, John; Cazier, Jean-Baptiste; Rimmer, Andy; Kanapin, Alexander; Lunter, Gerton; Fiddy, Simon; Allan, Chris; Aricescu, A. Radu; Attar, Moustafa; Babbs, Christian; Becq, Jennifer; Beeson, David; Bento, Celeste; Bignell, Patricia; Blair, Edward; Buckle, Veronica J.; Bull, Katherine; Cais, Ondrej; Cario, Holger; Chapel, Helen; Copley, Richard R.; Cornall, Richard; Craft, Jude; Dahan, Karin; Davenport, Emma E.; Dendrou, Calliope; Devuyst, Olivier; Fenwick, Aimee L.; Flint, Jonathan; Fugger, Lars; Gilbert, Rodney D.; Goriely, Anne; Green, Angie; Greger, Ingo H.; Grocock, Russell; Gruszczyk, Anja V.; Hastings, Robert; Hatton, Edouard; Higgs, Doug; Hill, Adrian; Holmes, Chris; Howard, Malcolm; Hughes, Linda; Humburg, Peter; Johnson, David; Karpe, Fredrik; Kingsbury, Zoya; Kini, Usha; Knight, Julian C.; Krohn, Jonathan; Lamble, Sarah; Langman, Craig; Lonie, Lorne; Luck, Joshua; McCarthy, Davis; McGowan, Simon J.; McMullin, Mary Frances; Miller, Kerry A.; Murray, Lisa; Nemeth, Andrea H.; Nesbit, M. Andrew; Nutt, David; Ormondroyd, Elizabeth; Oturai, Annette Bang; Pagnamenta, Alistair; Patel, Smita Y.; Percy, Melanie; Petousi, Nayia; Piazza, Paolo; Piret, Sian E.; Polanco-Echeverry, Guadalupe; Popitsch, Niko; Powrie, Fiona; Pugh, Chris; Quek, Lynn; Robbins, Peter A.; Robson, Kathryn; Russo, Alexandra; Sahgal, Natasha; van Schouwenburg, Pauline A.; Schuh, Anna; Silverman, Earl; Simmons, Alison; Sorensen, Per Soelberg; Sweeney, Elizabeth; Taylor, John; Thakker, Rajesh V.; Tomlinson, Ian; Trebes, Amy; Twigg, Stephen R. F.; Uhlig, Holm H.; Vyas, Paresh; Vyse, Tim; Wall, Steven A.; Watkins, Hugh; Whyte, Michael P.; Witty, Lorna; Wright, Ben; Yau, Chris; Buck, David; Humphray, Sean; Ratcliffe, Peter J.; Bell, John I.; Wilkie, Andrew O. M.; Bentley, David; Donnelly, Peter; McVean, Gilean
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Association of mutations in FLNA with craniosynostosis
err2015-04-15
err11
errOAAI
errFennell, Nathalie; Foulds, Nicola; Johnson, Diana S.; Wilson, Louise C.; Wyatt, Michelle; Robertson, Stephen P.; Johnson, David; Wall, Steven A.; Wilkie, Andrew O. M.
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