Search Results - Mary O’Driscoll

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  1. 1
    Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

    Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis by Andrea Delle Vedove, Markus Storbeck, Raoul Heller, Irmgard Hölker, Malavika Hebbar, Anju Shukla, Ólafur Þ. Magnússon, Sebahattin Çırak, Katta M. Girisha, Mary O’Driscoll, Bart Loeys, Brunhilde Wirth

    Published 2016
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  2. 2
    Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

    Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria by Mary O’Driscoll, Sarah B. Daly, Jill Urquhart, Graeme Black, Daniela T. Pilz, Knut Brockmann, Meriel McEntagart, Ghada M. H. Abdel‐Salam, Maha S. Zaki, Nicole I. Wolf, Roger L. Ladda, Susan L. Sell, Stefano D’Arrigo, Waney Squier, William B. Dobyns, John H. Livingston, Yanick J. Crow

    Published 2010
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  3. 3
    Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus–CA3 projection

    Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus–CA3 projection by Wenjun Zhou, Yanlin He, Atteeq U. Rehman, Yan Kong, Sungguan Hong, Guolian Ding, Hari Krishna Yalamanchili, Ying‐Wooi Wan, Paul Basil, Chuhan Wang, Yingyun Gong, Wenxian Zhou, Hao Liu, John Dean, Emmanuel Scalais, Mary O’Driscoll, Jenny E.V. Morton, Xinguo Hou, Qi Wu, Qingchun Tong, Zhandong Liu, Pengfei Liu, Yong Xu, Zheng Sun

    Published 2019
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  4. 4
    Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates

    Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates by Ronald G. Lafrenière, Marcia L.E. MacDonald, Marie‐Pierre Dubé, Julie MacFarlane, Mary O’Driscoll, Bernard Brais, Sébastien Meilleur, Ryan R. Brinkman, Owen Dadivas, Terry D. Pape, Christèle Platon, Chris Radomski, Jenni Risler, Jay Thompson, Ana-Maria Guerra-Escobio, Gudarz Davar, Xandra O. Breakefield, Simon N. Pimstone, Roger Green, William Pryse‐Phillips, Y. Paul Goldberg, H. Banfield Younghusband, Michael R. Hayden, Robin Sherrington, Guy A. Rouleau, Mark Samuels

    Published 2004
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  5. 5
    Expanding the phenotypic spectrum of <i>CLCN2</i>-related leucoencephalopathy and ataxia

    Expanding the phenotypic spectrum of <i>CLCN2</i>-related leucoencephalopathy and ataxia by Paulo Ribeiro Nóbrega, Anderson Rodrigues Brandão de Paiva, Katiane Sayão Souza, Jorge Luiz B de Souza, Pedro Lucas Grangeiro de Sá Barreto Lima, Delson José da Silva, Milena Sales Pitombeira, V. Borges, Daniel A. Dias, Lúciana Mota Bispo, Carolina Figueiredo Santos, Fernando Freua, Paulo D. S. Silva, Isabela dos Santos Alves, Leonardo Barreira Portella, Paulina Cunha, Rubens Paulo Araújo Salomão, José Luiz Pedroso, Veridiana Pessoa, Fábio Miyajima, Elisa Calì, Charles Wade, Annapurna Sudarsanam, Mary O’Driscoll, Tom Hayton, Orlando Graziani Póvoas Barsottini, Stephan Klebe, Fernando Kok, Leandro Tavares Lucato, Henry Houlden, Christel Depienne, David S. Lynch, Pedro Braga‐Neto

    Published 2023
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  6. 6
    Evidence for 28 genetic disorders discovered by combining healthcare and research data

    Evidence for 28 genetic disorders discovered by combining healthcare and research data by Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae, Patrick Short, Rebecca Torene, Elke de Boer, Petr Danecek, Eugene J. Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Rolph Pfundt, Margot R.F. Reijnders, Alison Yeung, Helger G. Yntema, Sílvia Borràs, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper‐Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai‐Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury‐Ecob, Andrew Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Stephen Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo‐Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Ann Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew P. Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma L. Baple, Júlia Baptista, Carole Brewer

    Published 2020
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  7. 7
    The contribution of X-linked coding variation to severe developmental disorders

    The contribution of X-linked coding variation to severe developmental disorders by Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari Niemi, Giuseppe Gallone, Jeremy F. McRae, Sílvia Borràs, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper‐Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai‐Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury‐Ecob, Andrew Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Stephen Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo‐Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Ann Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew P. Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma L. Baple, Júlia Baptista, Carole Brewer, Bruce Castle, Emma Kivuva, Martina Owens, Julia Rankin, Charles Shaw‐Smith, Claire Turner, Peter D. Turnpenny, Carolyn Tysoe, Therese Bradley, Rosemarie Davidson

    Published 2021
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