Search Results - Stephen Clayton

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  1. 1
    Reproducible, portable, and efficient ancient genome reconstruction with nf-core/eager

    Reproducible, portable, and efficient ancient genome reconstruction with nf-core/eager by James A. Fellows Yates, Thiseas C. Lamnidis, Maxime Borry, Aida Andrades Valtueña, Zandra Fagernäs, Stephen Clayton, Maxime Garcia, Judith Neukamm, Alexander Peltzer

    Published 2021
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  2. 2
    DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

    DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources by Helen V. Firth, Shola M. Richards, A. Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger Pettett, Nigel P. Carter

    Published 2009
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  3. 3
    Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

    Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders by Caroline F. Wright, Jeremy F. McRae, Stephen Clayton, Giuseppe Gallone, Stuart Aitken, Tomas Fitzgerald, Philip Jones, Elena Prigmore, Diana Rajan, Jenny Lord, Alejandro Sifrim, Rosemary E. Kelsell, Michael Parker, Jeffrey C. Barrett, Matthew E. Hurles, David Fitzpatrick, Helen V. Firth

    Published 2018
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  4. 4
    Massively Parallel Sequencing Reveals the Complex Structure of an Irradiated Human Chromosome on a Mouse Background in the Tc1 Model of Down Syndrome

    Massively Parallel Sequencing Reveals the Complex Structure of an Irradiated Human Chromosome on a Mouse Background in the Tc1 Model of Down Syndrome by Susan Gribble, Frances K. Wiseman, Stephen Clayton, Elena Prigmore, Elizabeth Langley, Fengtang Yang, Sean Maguire, Beiyuan Fu, Diana Rajan, Olivia Sheppard, Clare L. Scott, H. Häuser, Philip J. Stephens, Lucy Stebbings, Bee Ling Ng, Tomas Fitzgerald, Michael A. Quail, Ruby Banerjee, Kai Rothkamm, Victor L. J. Tybulewicz, Elizabeth Fisher, Nigel P. Carter

    Published 2013
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  5. 5
    Genomic analyses of hair from Ludwig van Beethoven

    Genomic analyses of hair from Ludwig van Beethoven by Tristan James Alexander Begg, Axel Schmidt, Arthur Kocher, Maarten Larmuseau, Göran Runfeldt, Paul A. Maier, John D. Wilson, Rodrigo Barquera, Carlo Maj, András Szolek, Michael Sager, Stephen Clayton, Alexander Peltzer, Ruoyun Hui, Julia Ronge, Ella Reiter, Cäcilia Freund, Marta Burri, Franziska Aron, Anthi Tiliakou, Joanna Osborn, Doron M. Behar, Malte Boecker, Guido Brandt, Isabelle Cleynen, Christian Strassburg, Kay Prüfer, Denise Kühnert, William Meredith, Markus M. Nöthen, Robert Attenborough, Toomas Kivisild, Johannes Krause

    Published 2023
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  6. 6
    Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

    Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data by Caroline F. Wright, Tomas Fitzgerald, Wendy D. Jones, Stephen Clayton, Jeremy F. McRae, Margriet van Kogelenberg, Daniel A. King, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, A. Paul Bevan, Eugene Bragin, Eleni Anthippi Chatzimichali, Susan Gribble, Philip Jones, Netravathi Krishnappa, Laura E. Mason, Ray Miller, Katherine I. Morley, Vijaya Parthiban, Elena Prigmore, Diana Rajan, Alejandro Sifrim, G. Jawahar Swaminathan, Adrian R. Tivey, Anna Middleton, Michael Parker, Nigel P. Carter, Jeffrey C. Barrett, Matthew E. Hurles, David Fitzpatrick, Helen V. Firth

    Published 2014
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  7. 7
    Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

    Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families by Nadia Akawi, Jeremy F. McRae, Morad Ansari, Meena Balasubramanian, Moira Blyth, Angela F. Brady, Stephen Clayton, Trevor Cole, Charu Deshpande, Tomas Fitzgerald, Nicola Foulds, Richard Francis, George C. Gabriel, Sebastian S. Gerety, Judith Goodship, Emma Hobson, Wendy D. Jones, Shelagh Joss, Daniel A. King, Nikolai Klena, Ajith Kumar, Melissa Lees, Chris Lelliott, Jenny Lord, Dominic McMullan, Mary O’Regan, Deborah Osio, Virginia Piombo, Elena Prigmore, Diana Rajan, Elisabeth Rosser, Alejandro Sifrim, Audrey Smith, G. Jawahar Swaminathan, Peter D. Turnpenny, James W. Whitworth, Caroline F. Wright, Helen V. Firth, Jeffrey C. Barrett, Cecilia Lo, David Fitzpatrick, Matthew E. Hurles

    Published 2015
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  8. 8
    Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders Study

    Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders Study by Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel A. King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan H. de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis E. Duncan, Jacqueline Eason, Sian Ellard, Ian O. Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, AndrewW Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali

    Published 2016
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  9. 9
    Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

    Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders by Víctor Faúndes, William G. Newman, Laura Bernardini, Natalie Canham, Jill Clayton‐Smith, Bruno Dallapiccola, Sally Davies, Michelle Demos, Amy Goldman, Harinder Gill, Rachel Horton, Bronwyn Kerr, Dhavendra Kumar, Anna Lehman, Shane McKee, Jenny Morton, Michael Parker, Julia Rankin, Lisa Robertson, I. Karen Temple, Siddharth Banka, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela F. Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson

    Published 2017
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  10. 10
    CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

    CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language by Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, C. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P.A. Stegmann, Patricia G. Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T. Gibson, Ana S.A. Cohen, Ruky Agbahovbe, A. Micheil Innes, Ping Yee Billie Au, Julia Rankin, Ilse J. Anderson, Steven A. Skinner, Raymond J. Louie, Hannah Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong‐Hee Chae, Susan Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Marion Koopmans, Eva H. Brilstra, Glen R. Monroe, Koen L.I. van Gassen, Ellen van Binsbergen, Ruth Newbury‐Ecob, Lucy Bownass, Ingrid Bader, Johannes A. Mayr, Saskia B. Wortmann, Kathy J. Jakielski, Edythe A. Strand, Katja Kloth, Tatjana Bierhals, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, E Blair, Moira Blyth

    Published 2018
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  11. 11
    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy by Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes, Jordan C. Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt Marie Anderlid, Silvia Azzarello‐Burri, Alice Basinger, Claudia Bianchini, Lynne M. Bird, Rebecca Buchert, Wilfrid Carré, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Florence Démurger, James J. Dowling, Bénédicte Duban‐Bedu, Christèle Dubourg, Saga Elise Eiset, Luis Escobar, Alessandra Ferrarini, Tobias B. Haack, Mona Hashim, Solveig Heide, Katherine L. Helbig, Ingo Helbig, Raúl Jiménez Heredia, Delphine Héron, Bertrand Isidor, Amy R. Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y. Kroes, Alinoë Lavillaureix, Xin Lü, Saskia M. Maas, Gustavo Maegawa, Carlo Marcelis, Paul R. Mark, Marcelo Rodrigues Masruha, Heather M. McLaughlin, Kirsty McWalter, Esther U. Melchinger, Saadet Mercimek‐Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rieß, Amarilis Sanchez‐Valle, Shifteh Sattar, Carol J. Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C. Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A. Trauner, Hélio van der Linden, Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie Vogt, Yvonne G. Weber, Ingrid M. Wentzensen, Elysa Widjaja, Jaroslav Žák, Samantha Baxter, Siddharth Banka, Lance H. Rodan, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones

    Published 2019
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  12. 12
    Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

    Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia by Kathleen M. Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Alba Sanchis‐Juan, Keren Carss, Emily Bryant, Adi Reich, Amy L. Schneider, Ronit Pressler, Michael A. Simpson, Geoff Debelle, Evangeline Wassmer, Jenny Morton, Diana Sieciechowicz, Eric Jan-Kamsteeg, Alex R. Paciorkowski, Mary D. King, J. Helen Cross, Annapurna Poduri, Heather C. Mefford, Ingrid E. Scheffer, Tobias B. Haack, Gary McCullagh, J Gordon Millichap, Gemma L. Carvill, Jill Clayton‐Smith, Eamonn R. Maher, F. Lucy Raymond, Manju A. Kurian, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel A. King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro

    Published 2019
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  13. 13
    The immunogenetic diversity of the HLA system in Mexico correlates with underlying population genetic structure

    The immunogenetic diversity of the HLA system in Mexico correlates with underlying population genetic structure by Rodrigo Barquera, Diana Iraíz Hernández-Zaragoza, Alicia Bravo-Acevedo, Esteban Arrieta‐Bolaños, Stephen Clayton, Víctor Acuña-Alonzo, Julio César Martínez-Álvarez, Concepción López-Gil, Carmen Adalid-Sáinz, María del Rosario Vega-Martínez, Araceli Escobedo-Ruíz, Eva Dolores Juárez-Cortés, Alexander Immel, Hanna Pacheco-Ubaldo, Liliana González-Medina, Abraham Lona-Sánchez, Julio Lara‐Riegos, María Guadalupe de Jesús Sánchez-Fernández, Rosario Díaz-López, Gregorio Ulises Guizar-López, Carolina Medina‐Escobedo, María Araceli Arrazola-García, Gustavo Daniel Montiel-Hernández, Ofelia Hernández-Hernández, Flor del Rocío Ramos-de la Cruz, Francisco Juárez-Nicolás, Jorge Arturo Pantoja-Torres, Tirzo Jesús Rodríguez-Munguía, Vicencio Juárez-Barreto, Héctor Delgado-Aguirre, Ariadna Berenice Escutia-González, Isis Goné-Vázquez, Gamaliel Benítez-Arvizu, Francia Paulina Arellano-Prado, Víctor Eduardo García-Arias, Marla Estefanía Rodríguez-López, Patricia Méndez-Mani, Raquel García-Álvarez, Marisela del Rocío González-Martínez, Guadalupe Aquino-Rubio, Néstor Escareño-Montiel, Tannya Verónica Vázquez-Castillo, María Guadalupe Uribe-Duarte, María de Jesús Ruíz-Corral, Andrea Ortega-Yáñez, Natalia Bernal-Felipe, Benjamín Gómez-Navarro, Agustín Jericó Arriaga-Perea, Virginia Martínez-Bezies, Rosa María Macías-Medrano, Jesús Abraham Aguilar-Campos, Raúl Solís-Martínez, Ricardo Serrano-Osuna, Mario J. Sandoval-Sandoval, Yolanda Jaramillo‐Rodríguez, Antonio Salgado-Adame, Federico Juárez-de la Cruz, Bárbara Novelo‐Garza, María de los Ángeles Pavón-Vargas, Norma Salgado-Galicia, María Cátira Bortolini, Carla Gallo, Gabriel Bedoya, Francisco Rothhammer, Rolando González‐José, Andrés Ruiz‐Linares, Samuel Canizales‐Quinteros, Sandra Romero‐Hidalgo, Johannes Krause, Joaquı́n Zúñiga, Edmond J. Yunis, Carolina Bekker-Méndez, Julio Granados

    Published 2020
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