Search Results - Emma Kivuva

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  1. 1
    An exome sequencing strategy to diagnose lethal autosomal recessive disorders

    An exome sequencing strategy to diagnose lethal autosomal recessive disorders by Sian Ellard, Emma Kivuva, Peter D. Turnpenny, Karen Stals, Matthew B. Johnson, Weijia Xie, Richard Caswell, Hana Lango Allen

    Published 2014
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  2. 2
    Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

    Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management by Natalie Chandler, Sunayna Best, Jane Hayward, Francesca Faravelli, Sahar Mansour, Emma Kivuva, Dagmar Tapon, Alison Male, Catherine DeVile, Lyn S. Chitty

    Published 2018
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  3. 3
    Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

    Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci by Claire Turner, Deborah Mackay, Jonathan L A Callaway, Louise E Docherty, Rebecca Poole, H. Bullman, Margaret Lever, Bruce Castle, Emma Kivuva, Peter D. Turnpenny, Sarju Mehta, Sahar Mansour, Emma Wakeling, Verghese Mathew, J. Madden, Justin H. Davies, I. Karen Temple

    Published 2010
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  4. 4
    Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

    Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans by Louise E Docherty, Faisal I. Rezwan, Rebecca Poole, Claire Turner, Emma Kivuva, Eamonn R. Maher, Sarah Smithson, Julian Hamilton‐Shield, Michał Patalan, Maria Giżewska, Jarosław Peregud‐Pogorzelski, Jasmin Beygo, Karin Buiting, Bernhard Horsthemke, Lukas Soellner, Matthias Begemann, Thomas Eggermann, Emma L. Baple, Sahar Mansour, I. Karen Temple, Deborah Mackay

    Published 2015
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  5. 5
    Clinical and genetic aspects of KBG syndrome

    Clinical and genetic aspects of KBG syndrome by Karen Low, Tazeen Ashraf, Natalie Canham, Jill Clayton‐Smith, Charu Deshpande, Alan Donaldson, Richard Fisher, Frances Flinter, Nicola Foulds, Alan Fryer, Kate Gibson, Ian Hayes, Alison Hills, Susan Holder, Melita Irving, Shelagh Joss, Emma Kivuva, Katherine Lachlan, Alex Magee, Vivienne McConnell, Meriel McEntagart, Kay Metcalfe, Tara Montgomery, Ruth Newbury‐Ecob, Fiona Stewart, Peter D. Turnpenny, Julie Vogt, David Fitzpatrick, Maggie Williams, Sarah Smithson

    Published 2016
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  6. 6
    HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

    HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients by Stéphanie Moortgat, Siren Berland, Ingvild Aukrust, Isabelle Maystadt, Laura Baker, Valérie Benoît, Alfonso Caro‐Llopis, Nicola Cooper, François‐Guillaume Debray, Laurence Faivre, Thatjana Gardeitchik, Bjørn Ivar Haukanes, Gunnar Houge, Emma Kivuva, Francisco Martı́nez, Sarju Mehta, Marie‐Cécile Nassogne, Nina Powell‐Hamilton, Rolph Pfundt, Mónica Roselló, Trine Prescott, Pradeep Vasudevan, Barbara van Loon, Christine Verellen‐Dumoulin, Alain Verloès, Charlotte von der Lippe, Emma Wakeling, Andrew O.M. Wilkie, Louise C. Wilson, Amy Lawson Yuen, Ddd Study, Karen Low, Ruth Newbury‐Ecob

    Published 2017
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  7. 7
    An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

    An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants by Bruce Nmezi, Guillermo Rodríguez Bey, Talia DeFrancesco Oranburg, Kseniia Dudnyk, Santana M. Lardo, Nathan Herdman, Anastasia M. Jacko, Sandy Rubio, Emanuel Loeza Alcocer, Julia Kofler, Dongkyeong Kim, Julia Rankin, Emma Kivuva, Nicholas J. Gutowski, Katherine Schon, Jelle van den Ameele, Patrick F. Chinnery, Sérgio B. Sousa, Filipe Palavra, Camilo Toro, Filippo Pinto e Vairo, Jonas Alex Morales Saute, Lisa Pan, Murad Alturkustani, Robert Hammond, François Gros‐Louis, Michael Gold, Yungki Park, Geneviève Bernard, Raili Raininko, Jian Zhou, Sarah J. Hainer, Quasar Saleem Padiath

    Published 2023
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  8. 8
    An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

    An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants by Bruce Nmezi, Guillermo Rodríguez Bey, Talia DeFrancesco Oranburg, Kseniia Dudnyk, Santana M. Lardo, Nathan Herdman, Anastasia M. Jacko, Sandy Rubio, Emanuel Loeza-Alcocer, Julia Kofler, Dongkyeong Kim, Julia Rankin, Emma Kivuva, Nicholas J. Gutowski, Katherine Schon, Jelle van den Ameele, Patrick F. Chinnery, Sérgio B. Sousa, Filipe Palavra, Camilo Toro, Filippo Pinto e Vairo, Jonas Alex Morales Saute, Lisa Pan, Murad Alturkustani, Robert Hammond, François Gros‐Louis, Michael Gold, Yungki Park, Geneviève Bernard, Raili Raininko, Jian Zhou, Sarah J. Hainer, Quasar Saleem Padiath

    Published 2025
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  9. 9
    Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

    Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing by Karen Stals, Matthew N. Wakeling, Júlia Baptista, Richard Caswell, Andrew Parrish, Julia Rankin, Carolyn Tysoe, Garan Jones, Adam C. Gunning, Hana Lango Allen, Lisa Bradley, Angela F. Brady, Helena Carley, Jenny Carmichael, Bruce Castle, Deirdre Cilliers, Helen Cox, Charu Deshpande, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Andrew E. Fry, Alan Fryer, Muriel Holder, Tessa Homfray, Emma Kivuva, Victoria McKay, Ruth Newbury‐Ecob, Michael Parker, Ravi Savarirayan, Claire Searle, Nora Shannon, Deborah Shears, Sarah Smithson, Ellen Thomas, Peter D. Turnpenny, Vinod Varghese, Pradeep Vasudevan, Emma Wakeling, Emma L. Baple, Sian Ellard

    Published 2017
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  10. 10
    Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

    Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation by Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, K Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, L Thibaut, Jonathan Williams, Edward Blair, Fiona Blanco‐Kelly, Angela Bloss, Emma Burkitt‐Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa Lees, Harry G. Leitch, Jenny E.V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah Shears, Lucy Side, Miranda Splitt, A. Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, R. W. Davies, Andrew O.M. Wilkie, Anne Goriely

    Published 2023
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  11. 11
    The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

    The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction by Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, Frédéric Laumonnier, Annick Toutain, Frédérique Bonnet‐Brilhault, Yana Hoorne, Shelagh Joss, Anna Chassevent, Constance Smith‐Hicks, Bart Loeys, Pascal Joset, Katharina Steindl, Anita Rauch, Sarju Mehta, Wendy K. Chung, Koenraad Devriendt, Susan Holder, Tamison Jewett, Lauren M. Baldwin, William G. Wilson, Shelley Towner, Siddharth Srivastava, Hannah Johnson, Cornelia Daumer‐Haas, Martina Baethmann, Anna Ruiz, Elisabeth Gabau, Vani Jain, Vinod Varghese, Ali Said Al-Beshri, Stephen P. Fulton, Oded Wechsberg, Naama Orenstein, Katrina Prescott, Anne-Marie Childs, Laurence Faivre, Sébastien Moutton, Jennifer A. Sullivan, Vandana Shashi, Suzanne M. Koudijs, Malou Heijligers, Emma Kivuva, Amy McTague, Alison Male, Yvette van Ierland, Barbara Plecko, Isabelle Maystadt, Rizwan Hamid, Vickie Hannig, Gunnar Houge, Veerle Janssens

    Published 2020
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  12. 12
    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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