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  1. Brimley, Stephen [Author] ; Garrow, Carrie [Contributor]; Jorgensen, Miriam [Contributor]; Wakeling, Stewart [Contributor]

    Outcome Evaluation of the Comprehensive Indian Resources for Community and Law Enforcement (CIRCLE) Project With Data From Nine Tribes in the United States, 1995-2004

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    [Erscheinungsort nicht ermittelbar]: [Verlag nicht ermittelbar], 2008

  2. Evans, Connor; Shepherd, Lucy; Bryan, Gemma; Fulbright, Helen; Crowther, Scott; Wakeling, Sara; Stewart, Andy; Stewart, Claire; Chisholm, Julia; Gibson, Faith; Phillips, Bob; Morgan, Jessica E.

    A systematic review of early phase studies for children and young people with relapsed and refractory rhabdomyosarcoma: The REFoRMS‐SR project

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    Wiley, 2024

    Published in: International Journal of Cancer, 154 (2024) 7, Seite 1235-1260

  3. Olley, Gabrielle; Ansari, Morad; Bengani, Hemant; Grimes, Graeme R.; Rhodes, James; von Kriegsheim, Alex; Blatnik, Ana; Stewart, Fiona J.; Wakeling, Emma; Carroll, Nicola; Ross, Alison; Park, Soo-Mi; Bickmore, Wendy A.; Pradeepa, Madapura M.; FitzPatrick, David R.

    Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

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    Springer Science and Business Media LLC, 2019

    Published in: Nature Genetics, 51 (2019) 7, Seite 1192-1192

  4. Olley, Gabrielle; Ansari, Morad; Bengani, Hemant; Grimes, Graeme R.; Rhodes, James; von Kriegsheim, Alex; Blatnik, Ana; Stewart, Fiona J.; Wakeling, Emma; Carroll, Nicola; Ross, Alison; Park, Soo-Mi; Bickmore, Wendy A.; Pradeepa, Madapura M.; FitzPatrick, David R.

    BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

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    Springer Science and Business Media LLC, 2018

    Published in: Nature Genetics, 50 (2018) 3, Seite 329-332

  5. Olley, Gabrielle; Ansari, Morad; Bengani, Hemant; Grimes, Graeme R.; Rhodes, James; von Kriegsheim, Alex; Blatnik, Ana; Stewart, Fiona J.; Wakeling, Emma; Carroll, Nicola; Ross, Alison; Park, Soo-Mi; Bickmore, Wendy A.; Pradeepa, Madapura M.; FitzPatrick, David R.

    Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

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    Springer Science and Business Media LLC, 2018

    Published in: Nature Genetics, 50 (2018) 5, Seite 767-767

  6. Mayer, Josephine; Jenkinson, Emma; Kasher, Paul; Stivaros, Stavros; Berger, Andrea; Cordelli, Duccio; Ferreira, Patrick; Jefferson, Rosalind; Kutschke, Georg; Lundberg, Staffan; Ounap, Katrin; Prabhakar, Prab; Soh, Calvin; Stewart, Helen; Stone, Jon; van der Knaap, Marjo; van Esch, Hilda; van Mol, Christine; Wakeling, Emma; Whitney, Andrea; Rice, Gillian; Crow, Yanick; Livingston, John

    Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus

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    Georg Thieme Verlag KG, 2014

    Published in: Neuropediatrics, 45 (2014) 3, Seite 175-182

  7. Sidpra, Jai; Sudhakar, Sniya; Biswas, Asthik; Massey, Flavia; Turchetti, Valentina; Lau, Tracy; Cook, Edward; Alvi, Javeria Raza; Elbendary, Hasnaa M; Jewell, Jerry L; Riva, Antonella; Orsini, Alessandro; Vignoli, Aglaia; Federico, Zara; Rosenblum, Jessica; Schoonjans, An-Sofie; de Wachter, Matthias; Delgado Alvarez, Ignacio; Felipe-Rucián, Ana; Haridy, Nourelhoda A; Haider, Shahzad; Zaman, Mashaya; Banu, Selina; Anwaar, Najwa; [...]

    The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders

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    Oxford University Press (OUP), 2024

    Published in: Brain (2024)

  8. Jenkinson, Emma M; Rodero, Mathieu P; Kasher, Paul R; Uggenti, Carolina; Oojageer, Anthony; Goosey, Laurence C; Rose, Yoann; Kershaw, Christopher J; Urquhart, Jill E; Williams, Simon G; Bhaskar, Sanjeev S; O'Sullivan, James; Baerlocher, Gabriela M; Haubitz, Monika; Aubert, Geraldine; Barañano, Kristin W; Barnicoat, Angela J; Battini, Roberta; Berger, Andrea; Blair, Edward M; Brunstrom-Hernandez, Janice E; Buckard, Johannes A; Cassiman, David M; Caumes, Rosaline; [...]

    Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

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    Springer Science and Business Media LLC, 2017

    Published in: Nature Genetics, 49 (2017) 2, Seite 317-317

  9. Jenkinson, Emma M; Rodero, Mathieu P; Kasher, Paul R; Uggenti, Carolina; Oojageer, Anthony; Goosey, Laurence C; Rose, Yoann; Kershaw, Christopher J; Urquhart, Jill E; Williams, Simon G; Bhaskar, Sanjeev S; O'Sullivan, James; Baerlocher, Gabriela M; Haubitz, Monika; Aubert, Geraldine; Barañano, Kristin W; Barnicoat, Angela J; Battini, Roberta; Berger, Andrea; Blair, Edward M; Brunstrom-Hernandez, Janice E; Buckard, Johannes A; Cassiman, David M; Caumes, Rosaline; [...]

    Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

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    Springer Science and Business Media LLC, 2016

    Published in: Nature Genetics, 48 (2016) 10, Seite 1185-1192

  10. Ansari, Morad; Poke, Gemma; Ferry, Quentin; Williamson, Kathleen; Aldridge, Roland; Meynert, Alison M; Bengani, Hemant; Chan, Cheng Yee; Kayserili, Hülya; Avci, Şahin; Hennekam, Raoul C M; Lampe, Anne K; Redeker, Egbert; Homfray, Tessa; Ross, Alison; Falkenberg Smeland, Marie; Mansour, Sahar; Parker, Michael J; Cook, Jacqueline A; Splitt, Miranda; Fisher, Richard B; Fryer, Alan; Magee, Alex C; Wilkie, Andrew; [...]

    Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

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    BMJ, 2014

    Published in: Journal of Medical Genetics, 51 (2014) 10, Seite 659-668

  11. Anderson, Beverley H; Kasher, Paul R; Mayer, Josephine; Szynkiewicz, Marcin; Jenkinson, Emma M; Bhaskar, Sanjeev S; Urquhart, Jill E; Daly, Sarah B; Dickerson, Jonathan E; O'Sullivan, James; Leibundgut, Elisabeth Oppliger; Muter, Joanne; Abdel-Salem, Ghada M H; Babul-Hirji, Riyana; Baxter, Peter; Berger, Andrea; Bonafé, Luisa; Brunstom-Hernandez, Janice E; Buckard, Johannes A; Chitayat, David; Chong, Wui K; Cordelli, Duccio M; Ferreira, Patrick; Fluss, Joel; [...]

    Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

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    Springer Science and Business Media LLC, 2012

    Published in: Nature Genetics, 44 (2012) 3, Seite 338-342

  12. Martin, Hilary C.; Gardner, Eugene J.; Samocha, Kaitlin E.; Kaplanis, Joanna; Akawi, Nadia; Sifrim, Alejandro; Eberhardt, Ruth Y.; Tavares, Ana Lisa Taylor; Neville, Matthew D. C.; Niemi, Mari E. K.; Gallone, Giuseppe; McRae, Jeremy; Borras, Silvia; Clark, Caroline; Dean, John; Miedzybrodzka, Zosia; Ross, Alison; Tennant, Stephen; Dabir, Tabib; Donnelly, Deirdre; Humphreys, Mervyn; Magee, Alex; McConnell, Vivienne; McKee, Shane; [...]

    The contribution of X-linked coding variation to severe developmental disorders

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    Springer Science and Business Media LLC, 2021

    Published in: Nature Communications, 12 (2021) 1

  13. Kaplanis, Joanna; Samocha, Kaitlin E.; Wiel, Laurens; Zhang, Zhancheng; Arvai, Kevin J.; Eberhardt, Ruth Y.; Gallone, Giuseppe; Lelieveld, Stefan H.; Martin, Hilary C.; McRae, Jeremy F.; Short, Patrick J.; Torene, Rebecca I.; de Boer, Elke; Danecek, Petr; Gardner, Eugene J.; Huang, Ni; Lord, Jenny; Martincorena, Iñigo; Pfundt, Rolph; Reijnders, Margot R. F.; Yeung, Alison; Yntema, Helger G.; Borras, Silvia; Clark, Caroline; [...]

    Evidence for 28 genetic disorders discovered by combining healthcare and research data

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    Springer Science and Business Media LLC, 2020

    Published in: Nature, 586 (2020) 7831, Seite 757-762