Resultats de la cerca - Tracy Lester

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  1. 1
    The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome

    The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome per Judith Cossins, Weiwei Liu, Katsiaryna Belaya, Susan Maxwell, Michael Oldridge, Tracy Lester, S. Robb, David Beeson

    Publicat 2012
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  2. 2
    Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome

    Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome per Michael Bowman, Michael Oldridge, Caroline N. S. Archer, A O'Rourke, Joanna McParland, Roel Brekelmans, A Seller, Tracy Lester

    Publicat 2012
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  3. 3
    Reoperation for Intracranial Hypertension in TWIST1-Confirmed Saethre-Chotzen Syndrome: A 15-Year Review

    Reoperation for Intracranial Hypertension in TWIST1-Confirmed Saethre-Chotzen Syndrome: A 15-Year Review per Roger H. Woods, Ehtesham Ul-Haq, Andrew O.M. Wilkie, Jayaratnam Jayamohan, Peter G. Richards, David Johnson, Tracy Lester, Steven A. Wall

    Publicat 2009
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  4. 4
    Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis

    Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis per Andrew O.M. Wilkie, Jo C. Byren, Jane A. Hurst, Jayaratnam Jayamohan, David Johnson, Samantha J.L. Knight, Tracy Lester, Peter G. Richards, Stephen R.F. Twigg, Steven A. Wall

    Publicat 2010
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  5. 5
    ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome

    ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome per Graeme E. Glass, Justine O’Hara, Natalie Canham, Deirdre Cilliers, David Dunaway, Aimée L Fenwick, Owase Jeelani, David Johnson, Tracy Lester, Helen Lord, Jenny E.V. Morton, Hiroshi Nishikawa, Peter Noons, Kemmy Schwiebert, Caroleen Shipster, Alison Taylor‐Beadling, Stephen R.F. Twigg, Pradeep Vasudevan, Steven A. Wall, Andrew O.M. Wilkie, Louise C. Wilson

    Publicat 2019
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  6. 6
    SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

    SMAD6 variants in craniosynostosis: genotype and phenotype evaluation per Eduardo Calpena, Araceli Cuellar, Krithi Bala, Sigrid M.A. Swagemakers, Nils Koelling, Simon J. McGowan, Julie Phipps, Meena Balasubramanian, Michael L. Cunningham, Sofia Douzgou, Wanda Lattanzi, Jenny E.V. Morton, Deborah Shears, Astrid Weber, Louise C. Wilson, Helen Lord, Tracy Lester, David Johnson, Steven A. Wall, Stephen R.F. Twigg, Irene M.J. Mathijssen, F. Boardman-Pretty, Simeon A. Boyadjiev, Andrew O.M. Wilkie

    Publicat 2020
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  7. 7
    Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

    Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis per Stephen R.F. Twigg, Elena Vorgia, Simon J. McGowan, Ioanna Peraki, Aimée L Fenwick, Vikram Sharma, Maryline Allégra, Ανδρέας Ζαραγκούλιας, Elham Sadighi Akha, Samantha J.L. Knight, Helen Lord, Tracy Lester, Louise Izatt, Anne Katrin Lampe, Shehla Mohammed, Fiona J. Stewart, Alain Verloès, Louise C. Wilson, Chris Healy, Paul T. Sharpe, Peter Hammond, Jim R. Hughes, Stephen Taylor, David Johnson, Steven A. Wall, George Mavrothalassitis, Andrew O.M. Wilkie

    Publicat 2013
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  8. 8
    Diagnostic value of exome and whole genome sequencing in craniosynostosis

    Diagnostic value of exome and whole genome sequencing in craniosynostosis per Kerry A. Miller, Stephen R.F. Twigg, Simon J. McGowan, Julie Phipps, Aimée L Fenwick, David Johnson, Steven A. Wall, Peter Noons, Katie E M Rees, Elizabeth A Tidey, Judith Craft, John Taylor, Jenny C. Taylor, Jacqueline A.C. Goos, Sigrid M.A. Swagemakers, Irene M. J. Mathijssen, Peter J. van der Spek, Helen Lord, Tracy Lester, Noina Abid, Deirdre Cilliers, Jane A. Hurst, Jenny E.V. Morton, Elizabeth Sweeney, Astrid Weber, Louise C. Wilson, Andrew O.M. Wilkie

    Publicat 2016
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  9. 9
    Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

    Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study per Lord J, McMullan DJ, Eberhardt RY, G. Rinck, SJ Hamilton, E Quinlan-Jones, Elena Prigmore, Rebecca Keelagher, Best SK, Carey GK, Rhiannon Mellis, Sarah Robart, I. Berry, Chandler Ke, Deirdre Cilliers, Lara Cresswell, Edwards Sl, Chris Gardiner, Alex Henderson, Holden ST, Tessa Homfray, Tracy Lester, Lewis Ra, Ruth Newbury‐Ecob, Katrina Prescott, OW Quarrell, Ramsden Sc, E. Roberts, Dagmar Tapon, Tooley MJ, Vasudevan PC, Weber Ap, Wellesley DG, Paul Westwood, HE White, Michael Parker, Denise Williams, Letreyona Jenkins, Scott Rh, Kilby MD, Chitty LS, ME Hurles, ER Maher

    Publicat 2019
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  10. 10
    Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

    Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability per Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban‐Akdemir, Janson J. White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, B P Wordsworth, Mike Oldridge, Tracy Lester, Alistair Calder, Katja Dumić, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati J. Mason, Lynda Pollack, Allyn McConkie‐Rosell, Wei Kelly, Marie McDonald, Natalie Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lúcia Martelli, Vicente Odone Filho, Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho

    Publicat 2021
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  11. 11
    Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

    Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study per Jenny Lord, Dominic McMullan, Ruth Y. Eberhardt, Gabriele Rinck, Susan Hamilton, E Quinlan-Jones, Elena Prigmore, Rebecca Keelagher, Sunayna Best, Georgina K. Carey, Rhiannon Mellis, Sarah Robart, Ian Berry, Kate Chandler, Deirdre Cilliers, Lara Cresswell, Sandra L. Edwards, Carol Gardiner, Alex Henderson, Simon Holden, Tessa Homfray, Tracy Lester, Rebecca Lewis, Ruth Newbury‐Ecob, Katrina Prescott, Oliver Quarrell, Simon Ramsden, Eileen Roberts, Dagmar Tapon, Madeleine Tooley, Pradeep Vasudevan, Astrid Weber, Diana Wellesley, Paul Westwood, Helen White, Michael Parker, Denise Williams, Lucy Jenkins, Richard H. Scott, Mark D. Kilby, Lyn S. Chitty, Matthew E. Hurles, Eamonn R. Maher, Mark S. Bateman, Ian Berry, Sunayna Best, Carolyn Campbell, Jenni Campbell, Georgina K. Carey, Kate Chandler, Lyn S. Chitty, Deirdre Cilliers, Kelly Cohen, Emma Collingwood, P. Constantinou, Lara Cresswell, Catherine Delmege, Ruth Y. Eberhardt, Sandra L. Edwards, Richard J. Ellis, Jerry Evans, Thomas R. Everett, Clare F Pinto, Natalie Forrester, Emma Fowler, Carol Gardiner, Susan Hamilton, Karen Healey, Alex Henderson, Simon Holden, Tessa Homfray, Rebecca Hudson, Matthew E. Hurles, Lucy Jenkins, Rebecca Keelagher, Mark D. Kilby, Tracey Lester, Rebecca Lewis, Jenny Lord, Eamonn R. Maher, Tamás Marton, Dominic McMullan, Sarju Mehta, Rhiannon Mellis, Ruth Newbury‐Ecob, Soo‐Mi Park, Michael Parker, Katrina Prescott, Elena Prigmore, Oliver Quarrell, E Quinlan-Jones, Simon Ramsden, Gabriele Rinck, Sarah Robart, Eileen Roberts, Jayne Rowland, Richard H. Scott, James Steer, Dagmar Tapon, Emma J. Taylor

    Publicat 2019
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  12. 12
    Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

    Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases per Alistair T. Pagnamenta, Carlos Camps, Edoardo Giacopuzzi, John Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schweßinger, Jim R. Hughes, Gerton Lunter, Hélène Dreau, Matteo P. Ferla, Lukas Lange, Yeşim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Banos‐Pinero, David Beeson, Tal Ben‐Ami, David Bennett, Celeste Bento, Edward Blair, Charlotte Brasch‐Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Dong Yin, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg A. Holländer, M K Javaid, Maureen A. Kane, Déirdre Kelly, Dominic F. Kelly, Samantha J.L. Knight, Alexandra Y. Kreins, Erika Kvikstad, Craig B. Langman, Tracy Lester, Kate E Lines, Simon Lord, Xin Lü, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian D. Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlčochová, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Christopher W. Pugh, Abolfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R.F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven A. Wall, Jing Wang, Hugh Watkins, Jaroslav Žák, Anna Schuh, Usha Kini, Andrew O.M. Wilkie, Niko Popitsch, Jenny C. Taylor

    Publicat 2023
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