检索结果 - Shane McKee

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  1. 1
    A scoping review and proposed workflow for multi-omic rare disease research

    A scoping review and proposed workflow for multi-omic rare disease research 由 Katie Kerr, Helen McAneney, Laura J. Smyth, Caitlin Bailie, Shane McKee, Amy Jayne McKnight

    出版 2020
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    Revisão
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  2. 2
    De novo, heterozygous, loss‐of‐function mutations in <i>SYNGAP1</i> cause a syndromic form of intellectual disability

    De novo, heterozygous, loss‐of‐function mutations in <i>SYNGAP1</i> cause a syndromic form of intellectual disability 由 Michael Parker, Alan Fryer, Deborah Shears, Katherine Lachlan, Shane McKee, Alex Magee, Shehla Mohammed, Pradeep Vasudevan, Soo‐Mi Park, Valérie Benoît, Damien Lederer, Isabelle Maystadt, DDD Study, David Fitzpatrick

    出版 2015
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  3. 3
    Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum

    Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum 由 Elena Boland, Jill Clayton‐Smith, Victoria G. Woo, Shane McKee, Forbes D.C. Manson, Līvija Medne, Elaine H. Zackai, Eric A. Swanson, David Fitzpatrick, Kathleen J. Millen, Elliott H. Sherr, William B. Dobyns, Graeme Black

    出版 2007
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  4. 4
    A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies

    A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies 由 Kevin C. Nixon, Justine Rousseau, Max H. Stone, Mohammed Sarikahya, Sophie Ehresmann, Seiji Mizuno, Naomichi Matsumoto, Noriko Miyake, Diana Baralle, Shane McKee, Kosuke Izumi, Alyssa Ritter, Solveig Heide, Delphine Héron, Christel Depienne, Hannah Titheradge, Jamie M. Kramer, Philippe M. Campeau

    出版 2019
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  5. 5
    Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

    Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients 由 Christiane Zweier, Heinrich Sticht, Emilia K. Bijlsma, Jill Clayton‐Smith, Susanne E. Boonen, Alan Fryer, Marie T. Greally, Ling Hoffmann, Nicolette S. den Hollander, Marjolijn C.J. Jongmans, Sarina G. Kant, Matthew King, Sally Ann Lynch, Shane McKee, Alina T. Midro, Park Sm, Valeria Ricotti, E Tarantino, M.W. Wessels, Maarit Peippo, Anita Rauch

    出版 2008
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    Carta
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  6. 6
    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome 由 Jill Clayton‐Smith, James O’Sullivan, Sarah B. Daly, Sanjeev S. Bhaskar, Ruth Day, Beverley Anderson, Anne K. Voss, Tim Thomas, Leslie G. Biesecker, Philip Smith, Alan Fryer, Kate Chandler, Bronwyn Kerr, May Tassabehji, Sally Ann Lynch, Małgorzata Krajewska‐Walasek, Shane McKee, Janine Smith, Elizabeth Sweeney, Sahar Mansour, Shehla Mohammed, Dian Donnai, Graeme Black

    出版 2011
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  7. 7
    Identification and validation of a novel pathogenic variant in <scp><i>GDF2</i></scp> (<scp>BMP9</scp>) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

    Identification and validation of a novel pathogenic variant in <scp><i>GDF2</i></scp> (<scp>BMP9</scp>) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriov... 由 Srimmitha Balachandar, Tamara Graves, Anika Shimonty, Katie Kerr, Jill Kilner, Sihao Xiao, Richard Slade, Manveer Sroya, Mary Alikian, Emanuel Curetean, Ellen Thomas, Vivienne McConnell, Shane McKee, F. Boardman-Pretty, A. Devereau, Tom Fowler, Mark J. Caulfield, Eric W.F.W. Alton, Teena Ferguson, Julian Redhead, Amy Jayne McKnight, Geraldine Thomas, Micheala A. Aldred, Claire L. Shovlin

    出版 2021
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  8. 8
    Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

    Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy 由 Mikko Muona, Ryosuke Ishimura, Anni Laari, Yoshinobu Ichimura, Tarja Linnankivi, Riikka Keski‐Filppula, Riitta Herva, Heikki Rantala, Anders Paetau, Minna Pöyhönen, Miki Obata, Takefumi Uemura, Thomas Karhu, Norihisa Bizen, Hirohide Takebayashi, Shane McKee, Michael Parker, Nadia Akawi, Jeremy F. McRae, Matthew E. Hurles, Outi Kuismin, Mitja Kurki, Anna‐Kaisa Anttonen, Keiji Tanaka, Aarno Palotie, Satoshi Waguri, Anna‐Elina Lehesjoki, Masaaki Komatsu

    出版 2016
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  9. 9
    Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

    Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans 由 Federica Buonocore, Peter Kühnen, Jenifer P. Suntharalingham, Ignacio del Valle, Martin Digweed, Harald Stachelscheid, Noushafarin Khajavi, Mohammed Didi, Angela F. Brady, Oliver Blankenstein, Annie Procter, Paul Dimitri, J K Wales, Paolo Ghirri, Dieter Knöbl, Brigitte Strahm, Miriam Erlacher, Marcin W. Włodarski, Wei Chen, George Kokai, Glenn Anderson, Deborah Morrogh, Dale Moulding, Shane McKee, Charlotte M. Niemeyer, Annette Grüters, John C. Achermann

    出版 2017
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  10. 10
    Delineation of dominant and recessive forms of <i>LZTR1</i>‐associated Noonan syndrome

    Delineation of dominant and recessive forms of <i>LZTR1</i>‐associated Noonan syndrome 由 Alistair T. Pagnamenta, Pamela J. Kaisaki, Fenella Bennett, Emma Burkitt‐Wright, Hilary C. Martin, Matteo P. Ferla, John Taylor, Lianne Gompertz, Nayana Lahiri, Katrina Tatton‐Brown, Ruth Newbury‐Ecob, Alex Henderson, Shelagh Joss, Astrid Weber, Jenny Carmichael, Peter D. Turnpenny, Shane McKee, Francesca Forzano, Tazeen Ashraf, Kimberley Bradbury, Deborah Shears, Usha Kini, Anna de Burca, Edward Blair, Jenny C. Taylor, Helen Stewart

    出版 2019
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  11. 11
    Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

    Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 由 Lianne C. Krab, Íñigo Marcos‐Alcalde, Melissa Assaf, Meena Balasubramanian, Janne Bayer Andersen, Anne‐Marie Bisgaard, David Fitzpatrick, Sanna Gudmundsson, Sylvia Huisman, Tuğba Kalaycı, Saskia M. Maas, Francisco Martı́nez, Shane McKee, Leonie A. Menke, Paul A. Mulder, Oliver Murch, Michael Parker, Juan Pié, Feliciano J. Ramos, Claudine Rieubland, Jill A. Rosenfeld, Emanuela Scarano, Marwan Shinawi, Paulino Gómez‐Puertas, Zeynep Tümer, Raoul C. M. Hennekam

    出版 2020
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  12. 12
    Clinical and molecular consequences of disease-associated de novo mutations in SATB2

    Clinical and molecular consequences of disease-associated de novo mutations in SATB2 由 Hemant Bengani, Mark T. Handley, Mohsan Alvi, Rita Ibitoye, Melissa Lees, Sally Ann Lynch, Wayne Lam, Madeleine Fannemel, Ann Nordgren, H Malmgren, Malin Kvarnung, Sarju Mehta, Shane McKee, Margo Whiteford, Fiona Stewart, Fiona Connell, Jill Clayton‐Smith, Sahar Mansour, Shehla Mohammed, Alan Fryer, Jenny Morton, Detelina Grozeva, Tara Asam, David Moore, Alejandro Sifrim, Jeremy McRae, Matthew E. Hurles, Helen V. Firth, F. Lucy Raymond, Usha Kini, Christoffer Nellåker, David Fitzpatrick

    出版 2017
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    Artigo
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  13. 13
    B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

    B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability 由 Gunnar Houge, Dorien Haesen, Lisenka E.L.M. Vissers, Sarju Mehta, Michael Parker, Michael Wright, Julie Vogt, Shane McKee, John Tolmie, Nuno Cordeiro, Tjitske Kleefstra, Marjolein H. Willemsen, Margot R.F. Reijnders, Siren Berland, E. HAYMAN, Eli Lahat, Eva H. Brilstra, Koen L.I. van Gassen, Evelien Zonneveld‐Huijssoon, Charlotte I. de Bie, Alexander Hoischen, Evan E. Eichler, Rita Holdhus, Vidar M. Steen, Stein Ove Do̷skeland, Matthew E. Hurles, David Fitzpatrick, Veerle Janssens

    出版 2015
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  14. 14
    Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

    Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction 由 Kathleen A. Williamson, Hildegard Nikki Hall, Liusaidh J. Owen, Benjamin Livesey, Isabel M. Hanson, Gill Adams, Simon Bodek, Patrick Calvas, Bruce Castle, Michael W. Clarke, Alexander T. Deng, Patrick Edery, Richard Fisher, Gabriele Gillessen‐Kaesbach, Elise Héon, Jane A. Hurst, Dragana Josifova, Birgit Lorenz, Shane McKee, Françoise Meire, Anthony T. Moore, Michael Parker, Charlotte Reiff, Jay Self, Edward S. Tobias, Joanne Verheij, Marjolaine Willems, Denise Williams, Veronica van Heyningen, Joseph A. Marsh, David Fitzpatrick

    出版 2019
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  15. 15
    A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

    A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect 由 Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger, Ann P. Wheeler, Anne Seawright, Elfride De Baere, Hannah Verdin, L. Therese Bergendahl, Alan J. Quigley, Joe Rainger, Abhijit Dixit, Ajoy Sarkar, Eduardo Laso, Rocío Sánchez‐Carpintero, Jesús Barrio‐Barrio, Pierre Bitoun, Trine Prescott, Ruth Riise, Shane McKee, Jackie Cook, Lisa McKie, Berten Ceulemans, Françoise Meire, I. Karen Temple, Fabienne Prieur, Jonathan Williams, Penny Clouston, Andrea H. Németh, Siddharth Banka, Hemant Bengani, Mark T. Handley, Elisabeth Freyer, Allyson Ross, Veronica van Heyningen, Joseph A. Marsh, Frances Elmslie, David Fitzpatrick

    出版 2016
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  16. 16
    The <i>CHD8</i> overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

    The <i>CHD8</i> overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients 由 Philip J. Ostrowski, Anna Zachariou, Chey Loveday, Ana Beleza‐Meireles, Marta Bértoli, John Dean, Andrew G. L. Douglas, Ian O. Ellis, Alison Foster, John M. Graham, Jennifer Hague, Yvonne Hilhorst‐Hofstee, Mariëtte J.V. Hoffer, Diana Johnson, Dragana Josifova, Sarina G. Kant, Usha Kini, Katherine Lachlan, Wayne Lam, Melissa Lees, Sally Ann Lynch, Silvia Maitz, Shane McKee, Kay Metcalfe, Katherine L. Nathanson, Charlotte W. Ockeloen, Michael Parker, Tyler Mark Pierson, Elisa Rahikkala, Pedro A. Sanchez‐Lara, Alice Spano, Lionel Van Maldergem, Trevor Cole, Sofia Douzgou, Katrina Tatton‐Brown

    出版 2019
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  17. 17
    Making sense of missense variants in TTN-related congenital myopathies

    Making sense of missense variants in TTN-related congenital myopathies 由 Martin Rees, Roksana Nikoopour, Atsushi Fukuzawa, Ay Lin Kho, Miguel A. Fernandez-Garcia, Elizabeth Wraige, István Bódi, Charu Deshpande, Özkan Özdemir, Hülya‐Sevcan Daimagüler, Mark Pfuhl, Mark Holt, Birgit Brandmeier, Sarah A. Grover, Joël Fluss, Cheryl Longman, Maria Elena Farrugia, Emma Matthews, Michael G. Hanna, Francesco Muntoni, Anna Sárközy, Rahul Phadke, Rosaline C. M. Quinlivan, Emily C. Oates, Rolf Schröder, Christian T. Thiel, Jens Reimann, Nicol C. Voermans, Corrie E. Erasmus, Erik‐Jan Kamsteeg, Chaminda Konersman, Carla Grosmann, Shane McKee, Sandya Tirupathi, Steven A. Moore, Ekkehard Wilichowski, Elke Hobbiebrunken, Gabriele Dekomien, Isabelle Richard, Peter Van den Bergh, Cristina Domínguez‐González, Sebahattin Çırak, Ana Ferreiro, Heinz Jungbluth, Mathias Gautel

    出版 2021
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  18. 18
    Further delineation of Malan syndrome

    Further delineation of Malan syndrome 由 Manuela Priolo, Denny Schanze, Katrin Tatton-Brown, Paul A. Mulder, Jair Tenorio, Kreepa Kooblall, Inés Hernández Acero, Fowzan S. Alkuraya, Pedro Arias, Laura Bernardini, Emilia K. Bijlsma, Trevor Cole, Christine Coubes, Irene Dapía, Sally Davies, Nataliya Di Donato, Nursel Elçioğlu, Jill A. Fahrner, Alison Foster, Noelia García González, Ilka Huber, Maria Iascone, Ann-Sophie Kaiser, Arveen Kamath, Jan Liebelt, Sally Ann Lynch, Saskia M. Maas, Corrado Mammì, Inge B. Mathijssen, Shane McKee, Leonie A. Menke, Ghayda Mirzaa, Tara Montgomery, D. Neubauer, Thomas Neumann, Letizia Pintomalli, Maria Antonietta Pisanti, Astrid S. Plomp, Sue Price, Claire Salter, Fernando Santos‐Simarro, Pierre Sarda, Mabel Segovia, Charles Shaw‐Smith, Sarah Smithson, Mohnish Suri, Rita Valdéz, Arie van Haeringen, Johanna M. van Hagen, Marcella Zollino, Pablo Lapunzina, Rajesh V. Thakker, Martin Zenker, Raoul C. M. Hennekam

    出版 2018
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  19. 19
    Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

    Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy 由 Daniel Greene, Koenraad De Wispelaere, Jonathan Lees, Marta Codina‐Solà, Brynjar Ö. Jensson, Emma Hales, Andrea Katrinecz, Esther Molina, Sónia Pascoal, Rolph Pfundt, Rachel Schot, Marta Sevilla Porras, Frank Sleutels, Irene Valenzuela, Robin Wijngaard, I. Arroyo Carrera, Giles Atton, Dídac Casas‐Alba, Deirdre E. Donnelly, Anna Duat Rodríguez, Barbara Fernández Garoz, Nicola Foulds, D. Nunez, Elena González Alguacil, Joanna Jarvis, Sarina G. Kant, Irene Madrigal, Antonio F. Martinez-Monseny, Shane McKee, Nelmar Valentina Ortiz‐Cabrera, Leslie Bodi, Andrea Sariego Jamardo, Kāri Stefánsson, Patrick Sulem, Mohnish Suri, Clara D.M. van Karnebeek, Pradeep Vasudevan, Ana Isabel Vega Pajares, Ángel Carracedo, Marc Engelen, Pablo Lapunzina, Natasha P. Morgan, Beatriz Morte, Patrick Rump, Kathleen Stirrups, Eduardo F. Tizzano, Tahsin Stefan Barakat, Michael O’Donoghue, Luis A. Pérez‐Jurado, Kathleen Freson, Andrew Mumford, Ernest Turro

    出版 2025
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  20. 20
    X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

    X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment 由 Leanne M. Dibbens, Patrick Tarpey, Kim Hynes, Marta A. Bayly, Ingrid E. Scheffer, Raffaella Smith, Jamee M. Bomar, Edwina Sutton, Lucianne Vandeleur, Cheryl Shoubridge, Sarah Edkins, Samantha J. Turner, Claire Stevens, Sarah O’Meara, Calli Tofts, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kelly Halliday, David Jones, Rebecca Lee, Mark Madison, Tatiana Mironenko, Jennifer Varian, Sofie West, Sara Widaa, Paul Wray, John Teague, Ed Dicks, Adam P. Butler, Andrew Menzies, Andy Jenkinson, Rebecca Shepherd, James F. Gusella, Zaid Afawi, Aziz Mazarib, Miriam Y. Neufeld, Sara Kivity, Dorit Lev, Tally Lerman‐Sagie, Amos D. Korczyn, Christopher P. Derry, Grant R. Sutherland, Kathryn Friend, Marie Shaw, Mark Corbett, Hyung‐Goo Kim, Daniel H. Geschwind, Paul Q. Thomas, Eric Haan, Stephen G. Ryan, Shane McKee, Samuel F. Berkovic, P. Andrew Futreal, Michael R. Stratton, John C. Mulley, Jozef Gécz

    出版 2008
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