Search Results - Alba Sanchis‐Juan

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  1. 1
    Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease

    Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease by Dale Annear, Geert Vandeweyer, Ellen Elinck, Alba Sanchis‐Juan, Courtney E. French, Lucy Raymond, R. Frank Kooy

    Published 2021
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  2. 2
    Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

    Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children by Courtney E. French, Isabelle Delon, Helen Dolling, Alba Sanchis‐Juan, Olga Shamardina, Karyn Mégy, Stephen Abbs, Topun Austin, Sarah Bowdin, Ricardo Garcia Branco, Helen V. Firth, David H. Rowitch, F. Lucy Raymond

    Published 2019
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  3. 3
    Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

    Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data by Xiao Chen, Alba Sanchis‐Juan, Courtney E. French, Andrew J. Connell, Isabelle Delon, Zoya Kingsbury, Aditi Chawla, Aaron L. Halpern, Ryan J. Taft, David Bentley, Matthew E.R. Butchbach, F. Lucy Raymond, Michael A. Eberle

    Published 2020
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  4. 4
    GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data

    GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data by Mehrtash Babadi, Jack Fu, Samuel K. Lee, Andrey N. Smirnov, Laura D. Gauthier, Mark Walker, David Benjamin, Xuefang Zhao, Konrad J. Karczewski, Isaac Wong, Ryan L. Collins, Alba Sanchis‐Juan, Harrison Brand, Eric Banks, Michael E. Talkowski

    Published 2023
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  5. 5
    Babelomics 5.0: functional interpretation for new generations of genomic data

    Babelomics 5.0: functional interpretation for new generations of genomic data by Roberto Alonso, Francisco Salavert, Francisco García‐García, José Carbonell‐Caballero, Marta Bleda, Luz García‐Alonso, Alba Sanchis‐Juan, D. Perez-Gil, Pablo Marín-García, Rubén Sánchez, Cankut Çubuk, Marta R. Hidalgo, Alicia Amadoz, Rosa Hernansaiz-Ballesteros, Alejandro Alemán, Joaquín Tárraga, David Montaner, Ignacio Medina, Joaquı́n Dopazo

    Published 2015
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  6. 6
    Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

    Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing by Alba Sanchis‐Juan, Jonathan Stephens, Courtney E. French, Nicholas Gleadall, Karyn Mégy, Christopher J. Penkett, Olga Shamardina, Kathleen Stirrups, Isabelle Delon, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Detelina Grozeva, Luca Stefanucci, Gavin Arno, Andrew R. Webster, Trevor Cole, Topun Austin, Ricardo Garcia Branco, Willem H. Ouwehand, F. Lucy Raymond, Keren Carss

    Published 2018
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  7. 7
    Rare germline structural variants increase risk for pediatric solid tumors

    Rare germline structural variants increase risk for pediatric solid tumors by Riaz Gillani, Ryan L. Collins, Jett Crowdis, Amanda Garza, Jill K. Jones, Mark Walker, Alba Sanchis-Juan, Christopher W. Whelan, Emma Pierce‐Hoffman, Michael E. Talkowski, Harrison Brand, Kevin M. Haigis, Jaclyn LoPiccolo, Saud H. AlDubayan, Alexander Gusev, Brian D. Crompton, Katherine A. Janeway, Eliezer M. Van Allen

    Published 2025
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  8. 8
    ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

    ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions by Egor Dolzhenko, Viraj Deshpande, Felix Schlesinger, Peter Krusche, Roman Petrovski, Sai Chen, Dorothea Emig-Agius, Andrew M. Gross, Giuseppe Narzisi, Brett Bowman, Konrad Scheffler, Joke J.F.A. van Vugt, Courtney E. French, Alba Sanchis‐Juan, Kristina Ibáñez, Arianna Tucci, Bryan R. Lajoie, Jan H. Veldink, F. Lucy Raymond, Ryan J. Taft, David Bentley, Michael A. Eberle

    Published 2019
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  9. 9
    De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

    De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment by Catherine Rodger, Elisabetta Flex, Rachel Allison, Alba Sanchis-Juan, Marcia A. Hasenahuer, Serena Cecchetti, Courtney E. French, James R. Edgar, Giovanna Carpentieri, Andrea Ciolfi, Francesca Pantaleoni, Alessandro Bruselles, Roberta Onesimo, Giuseppe Zampino, Francesca Marcon, Ester Siniscalchi, Melissa Lees, Deepa Krishnakumar, Emma McCann, Dragana Yosifova, Joanna Jarvis, Michael C. Kruer, Warren A. Marks, Jonathan J. Campbell, Louise Allen, Stefano Gustincich, F. Lucy Raymond, Marco Tartaglia, Evan Reid

    Published 2020
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  10. 10
    Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting

    Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting by Kimberly K. Diaz Perez, Sarah W. Curtis, Alba Sanchis-Juan, Xuefang Zhao, S. Taylor Head, Samantha Ho, Bridget Carter, Toby McHenry, Madison R. Bishop, Luz Consuelo Valencia‐Ramirez, Claudia Restrepo, Jacqueline T. Hecht, Lina M. Moreno Uribe, George L. Wehby, Seth M. Weinberg, Terri H. Beaty, Jeffrey C. Murray, Eleanor Feingold, Mary L. Marazita, David J. Cutler, Michael P. Epstein, Harrison Brand, Elizabeth J. Leslie

    Published 2023
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  11. 11
    Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

    Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans by Wei Wei, Alistair T. Pagnamenta, Nicholas Gleadall, Alba Sanchis‐Juan, Jonathan Stephens, John Broxholme, Salih Tuna, Christopher A. Odhams, John C. Ambrose, E. L. Baple, Marta Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, Mark J. Caulfield, G. C. Chan, C. E. H. Craig, Louise C. Daugherty, Anna de Burca, A. Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, Pedro Furió‐Tarí, J. M. Hackett, Dina Halai, J. E. Holman, Tim Hubbard, R. Jackson, D. Kasperaviciute, Melis Kayikci, L. Lahnstein, Kim Lawson, S. E. A. Leigh, I. U. S. Leong, F. J. Lopez, F. Maleady-Crowe, Joanne Mason, Ellen M. McDonagh, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, A. C. Need, Christopher A. Odhams, Christine Patch, D. Perez-Gil, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Augusto Rendon, Pablo Riesgo-Ferreiro, Tim Rogers, Mina Ryten, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Damian Smedley, Katherine R. Smith, Alona Sosinsky, W. Spooner, Hallam Stevens, A. Stuckey, Rukhsana Sultana, Ellen Thomas, S. R. Thompson, Carolyn Tregidgo, Arianna Tucci, Elizabeth T. Walsh, Scott Watters, M. J. Welland, Eric O. Williams, Katarzyna Witkowska, S. M. Wood, Magdalena Zarowiecki, Alba Sanchis‐Juan, Jonathan Stephens, Salih Tuna, Ernest Turro, Patrick F. Chinnery, Carl Fratter, Ernest Turro, Mark J. Caulfield, Jenny C. Taylor, Shamima Rahman, Patrick F. Chinnery

    Published 2020
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  12. 12
    Whole-genome sequencing of patients with rare diseases in a national health system

    Whole-genome sequencing of patients with rare diseases in a national health system by Ernest Turro, William J. Astle, Karyn Mégy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis‐Juan, Mattia Frontini, Chantal Thys, Jonathan Stephens, Rutendo Mapeta, Oliver S. Burren, Kate Downes, Matthias Haimel, Salih Tuna, Sri V. V. Deevi, Timothy J. Aitman, David Bennett, Paul Calleja, Keren Carss, Mark J. Caulfield, Patrick F. Chinnery, Peter H. Dixon, Daniel P. Gale, Roger James, Ania Koziell, Michael Laffan, Adam P. Levine, Eamonn R. Maher, Hugh S. Markus, Joannella Morales, Nicholas W. Morrell, Andrew Mumford, Elizabeth Ormondroyd, Stuart Rankin, Augusto Rendon, Sylvia Richardson, Irene Roberts, Noémi Roy, Moin A. Saleem, Kenneth G. C. Smith, Hannah Stark, Rhea Tan, Andreas C. Themistocleous, Adrian J. Thrasher, Hugh Watkins, Andrew R. Webster, Martin R. Wilkins, Catherine Williamson, James W. Whitworth, Sean Humphray, David Bentley, Nathalie Kingston, Neil Walker, John R. Bradley, Sofie Ashford, Christopher J. Penkett, Kathleen Freson, Kathleen Stirrups, F. Lucy Raymond, Willem H. Ouwehand

    Published 2021
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  13. 13
    De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

    De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy by Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy Barwick, Michaela Bonfert, Carsten G. Bönnemann, Eva H. Brilstra, Wendy K. Chung, Angus Clarke, Patrick Devine, Sandra Donkervoort, Jamie L. Fraser, Jennifer Friedman, Alyssa Gates, Jamal Ghoumid, Emma Hobson, Gabriella Horváth, Jennifer Keller‐Ramey, Boris Keren, Manju A. Kurian, Virgina Lee, Kathleen A. Leppig, Johan Lundgren, Marie McDonald, Heather M. McLaughlin, Amy McTague, Heather C. Mefford, Cyril Mignot, Mohamad A. Mikati, Caroline Nava, F. Lucy Raymond, Julian R. Sampson, Alba Sanchis-Juan, Vandana Shashi, Joseph T.C. Shieh, Marwan Shinawi, Anne Slavotinek, Tommy Stödberg, Nicholas Stong, Jennifer A. Sullivan, Ashley C. Taylor, Tomi L. Toler, Marie-José van den Boogaard, Saskia N. van der Crabben, Koen L.I. van Gassen, Richard H. van Jaarsveld, Jessica Van Ziffle, Alexandrea Wadley, Matias Wagner, Kristen Wigby, Saskia B. Wortmann, Yuri A. Zárate, Rikke S. Møller, Johannes R. Lemke, Konrad Platzer

    Published 2020
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  14. 14
    Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

    Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease by Gabrielle Lemire, Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk, Emily Groopman, Isaac Wong, Eleina England, Julia K. Goodrich, Lynn Pais, Christina Austin‐Tse, Stephanie DiTroia, Emily O’Heir, Vijay Ganesh, Monica H. Wojcik, Emily Evangelista, Hana Snow, Ikeoluwa Osei‐Owusu, Jack Fu, Mugdha Singh, Yulia Mostovoy, Steve S. Huang, Kiran Garimella, Samantha L. Kirkham, Jennifer E. Neil, Diane D. Shao, Christopher A. Walsh, Emanuela Argilli, Carolyn Le, Elliott H. Sherr, Joseph G. Gleeson, Shirlee Shril, Ronen Schneider, Friedhelm Hildebrandt, Vijay G. Sankaran, Jill A. Madden, Casie A. Genetti, Alan H. Beggs, Pankaj B. Agrawal, Kinga M. Bujakowska, Emily Place, Eric A. Pierce, Sandra Donkervoort, Carsten G. Bönnemann, Lyndon Gallacher, Zornitza Stark, Tiong Yang Tan, Susan M. White, Ana Töpf, Volker Straub, Mark D. Fleming, Martin R. Pollak, Katrin Õunap, Sander Pajusalu, Kirsten A. Donald, Zandrè Bruwer, Gianina Ravenscroft, Nigel G. Laing, Daniel G. MacArthur, Heidi L. Rehm, Michael E. Talkowski, Harrison Brand, Anne O’Donnell‐Luria

    Published 2024
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  15. 15
    Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

    Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease by Keren Carss, Gavin Arno, Marie Erwood, Jonathan Stephens, Alba Sanchis-Juan, Sarah Hull, Karyn Mégy, Detelina Grozeva, Eleanor Dewhurst, Samantha Malka, Vincent Plagnol, Christopher J. Penkett, Kathleen Stirrups, Roberta Rizzo, Genevieve Wright, Dragana Josifova, Maria Bitner‐Glindzicz, Richard H. Scott, Emma Clement, Louise Allen, Ruth Armstrong, Angela F. Brady, Jenny Carmichael, Manali Chitre, Robert Henderson, Jane A. Hurst, Robert E. MacLaren, Elaine Murphy, Joan Paterson, Elisabeth Rosser, Dorothy Thompson, Emma Wakeling, Willem H. Ouwehand, Michel Michaelides, Anthony T. Moore, Andrew R. Webster, F. Lucy Raymond, Timothy J. Aitman, Hana Alachkar, Sonia Ali, Louise Allen, David Allsup, Gautum Ambegaonkar, Julie Anderson, Richard Antrobus, Ruth Armstrong, Gavin Arno, Gururaj Arumugakani, Sofie Ashford, William F. Astle, Antony Attwood, Steve Austin, Chiara Bacchelli, Tamam Bakchoul, Tadbir K. Bariana, Helen Baxendale, David Bennett, Claire Bethune, Shahnaz Bibi, Maria Bitner‐Glindzicz, Marta Bleda, Harm Boggard, Paula Bolton‐Maggs, Claire Booth, John R. Bradley, Angie Brady, Matthew A. Brown, Michael J. Browning, Christine Bryson, Siobhán O. Burns, Paul Calleja, Natalie Canham, Jenny Carmichael, Keren Carss, Mark J. Caulfield, Elizabeth Chalmers, Anita Chandra, Patrick F. Chinnery, Manali Chitre, Colin Church, Emma Clement, Emma Clement, Virginia Clowes, Gerry Coghlan, Peter Collins, Nichola Cooper, Amanda Creaser-Myers, Rosa DaCosta, Louise C. Daugherty, Sophie Davies, John S. Davis, Minka De Vries, Patrick Deegan, Sri V. V. Deevi, Charu Deshpande, Lisa Devlin, Eleanor Dewhurst, Rainer Döffinger, Natalie Dormand, Elizabeth Drewe

    Published 2016
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  16. 16
    Whole-genome sequencing of a sporadic primary immunodeficiency cohort

    Whole-genome sequencing of a sporadic primary immunodeficiency cohort by James Thaventhiran, Hana Lango Allen, Oliver S. Burren, William Rae, Daniel Greene, Emily Staples, Zinan Zhang, James H. R. Farmery, Ilenia Simeoni, Elizabeth Rivers, Jesmeen Maimaris, Christopher J. Penkett, Jonathan Stephens, Sri V. V. Deevi, Alba Sanchis‐Juan, Nicholas Gleadall, Moira Thomas, Ravishankar Sargur, Pavels Gordins, Helen Baxendale, Matthew A. Brown, Paul Tuijnenburg, Austen Worth, Steven Hanson, Rachel Linger, Matthew Buckland, Paula Rayner-Matthews, Kimberly Gilmour, Crina Samarghitean, Suranjith L. Seneviratne, David M. Sansom, Andy G. Lynch, Karyn Mégy, Eva Ellinghaus, David Ellinghaus, Silje F. Jørgensen, Tom H. Karlsen, Kathleen Stirrups, Antony J. Cutler, Dinakantha Kumararatne, Anita Chandra, David Edgar, Archana Herwadkar, Nichola Cooper, Sofia Grigoriadou, Aarnoud Huissoon, Sarah Goddard, Stephen Jolles, Catharina Schuetz, Felix Boschann, Stephen Abbs, Zoe Adhya, Julian Adlard, Maryam Afzal, Irshad Ahmed, Munaza Ahmed, Saeed Ahmed, Timothy J. Aitman, Hana Alachkar, Jayanthi Alamelu, Raza Alikhan, Carl E. Allen, Louise Allen, David Allsup, Arif Alvi, Gautam Ambegaonkar, Ariharan Anantharachagan, Philip Ancliff, Julie A. Anderson, Richard Antrobus, Ruth Armstrong, Gavin Arno, Gururaj Arumugakani, Rita Arya, Sofie Ashford, William J. Astle, Anthony Attwood, Steve Austin, Yeşim Aydınok, Waqar Ayub, Christian Babbs, Chiara Bacchelli, Trevor Baglin, Tamam Bakchoul, Tadbir K. Bariana, Jonathan Barratt, Julian Barwell, John Baski, Rachel W. Bates, Joana Batista, Helen Baxendale, Gareth Baynam, David Bennett, Claire Bethune, Neha Bhatnagar, Shahnaz Bibi, Agnieszka Bierżyńska, Tina Biss, Maria Bitner‐Glindzicz, Marta Bleda

    Published 2020
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  17. 17
    Whole-genome sequencing of patients with rare diseases in a national health system

    Whole-genome sequencing of patients with rare diseases in a national health system by Ernest Turro, William J. Astle, Karyn Mégy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis‐Juan, Mattia Frontini, Chantal Thys, Jonathan Stephens, Rutendo Mapeta, Oliver S. Burren, Kate Downes, Matthias Haimel, Salih Tuna, Sri V. V. Deevi, Timothy J. Aitman, David Bennett, Paul Calleja, Keren Carss, Mark J. Caulfield, Patrick F. Chinnery, Peter Dixon, Daniel P. Gale, Roger James, Ania Koziell, Michael Laffan, Adam P. Levine, Eamonn R. Maher, Hugh S. Markus, Joannella Morales, Nicholas W. Morrell, Andrew Mumford, Elizabeth Ormondroyd, Stuart Rankin, Augusto Rendon, Sylvia Richardson, Irene Roberts, Noémi Roy, Moin A. Saleem, Kenneth G. C. Smith, Hannah Stark, Rhea Tan, Andreas C. Themistocleous, Adrian J. Thrasher, Hugh Watkins, Andrew R. Webster, Martin R. Wilkins, Catherine Williamson, James Whitworth, Sean Humphray, David Bentley, Stephen Abbs, Lara Abulhoul, Julian Adlard, Munaza Ahmed, Timothy J. Aitman, Hana Alachkar, David Allsup, J. P. Almeida, Philip Ancliff, Richard Antrobus, Ruth Armstrong, Gavin Arno, Sofie Ashford, William J. Astle, Anthony Attwood, Paul Aurora, Christian Babbs, Chiara Bacchelli, Tamam Bakchoul, Siddharth Banka, Tadbir K. Bariana, Julian Barwell, Joana Batista, Helen Baxendale, Phil Beales, David Bennett, David Bentley, Agnieszka Bierżyńska, Tina Biss, Maria Bitner‐Glindzicz, Graeme Black, Marta Bleda, Iulia Blesneac, Detlef Böckenhauer, Harm Jan Bogaard, Christian Bourne, Sara Boyce, John R. Bradley, Eugene Bragin, Gerome Breen, Paul Brennan, Carole Brewer, Matthew A. Brown, Andrew C. Browning, Michael J. Browning, Rachel Buchan, Matthew Buckland

    Published 2020
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  18. 18
    Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

    Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data by James H. R. Farmery, Mike L. Smith, Aarnoud Huissoon, Abigail Furnell, Adam J. Mead, Adam P. Levine, Adnan Manzur, Adrian J. Thrasher, Alan Greenhalgh, Alasdair Parker, Alba Sanchis-Juan, Alex Richter, Alice Gardham, Allan Lawrie, Aman Sohal, Amanda Creaser-Myers, Amy Frary, Andreas Greinacher, Andreas C. Themistocleous, Andrew J. Peacock, Andrew Marshall, Andrew Mumford, Andrew J. Rice, Andrew Webster, Angie Brady, Ania Koziell, Ania Manson, Anita Chandra, Anke Hensiek, Anna Huis in’t Veld, Anna Maw, Anne M. Kelly, Anthony T. Moore, Anton Vonk Noordegraaf, Antony Attwood, Archana Herwadkar, Hossein Ardeschir Ghofrani, Arjan C. Houweling, Barbara Girerd, Bruce Furie, Carmen Treacy, Carolyn M. Millar, Carrock Sewell, Catherine Roughley, Catherine Titterton, Catherine Williamson, Charaka Hadinnapola, Charu Deshpande, Cheng‐Hock Toh, Chiara Bacchelli, Christine Patch, Chris Van Geet, Christian Babbs, Christine Bryson, Christopher J. Penkett, Christopher J. Rhodes, C. Ian F. Watt, Claire Bethune, Claire Booth, Claire Lentaigne, Coleen McJannet, Colin Church, Courtney E. French, Crina Samarghitean, Csaba Halmagyi, Daniel P. Gale, Daniel Greene, Daniel P. Hart, David Allsup, David Bennett, David Edgar, David G. Kiely, David Gosal, David J. Perry, David Keeling, David Montani, Debbie Shipley, Deborah Whitehorn, Debra Fletcher, Deepa Krishnakumar, Detelina Grozeva, Dinakantha Kumararatne, Dorothy Thompson, Dragana Josifova, Eamonn R. Maher, Edwin Wong, Elaine Murphy, Eleanor Dewhurst, Eleni Louka, Elisabeth Rosser, Elizabeth Chalmers, Elizabeth Colby, Elizabeth Drewe, Elizabeth McDermott, Ellen Thomas, Emily Staples, Emma Clement, Emma Matthews, Emma Wakeling, Éric Oksenhendler

    Published 2018
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  19. 19
    De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

    De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures by Yoko Itō, Keren Carss, Sofia Duarte, Taila Hartley, Boris Keren, Manju A. Kurian, Isabelle Marey, Perinne Charles, Carla Mendonça, Caroline Nava, Rolph Pfundt, Alba Sanchis‐Juan, Hans van Bokhoven, Anthony van Essen, Conny M.A. van Ravenswaaij‐Arts, Kym M. Boycott, Kristin D. Kernohan, Sarah Dyack, F. Lucy Raymond, Timothy J. Aitman, David Bennett, Mark J. Caulfield, Patrick F. Chinnery, Daniel P. Gale, Ania Koziell, Taco W. Kuijpers, Michael Laffan, Eamonn R. Maher, Hugh S. Markus, Nicholas W. Morrell, Willem H. Ouwehand, David J. Perry, F. Lucy Raymond, Irene Roberts, Kenneth G. C. Smith, Adrian J. Thrasher, Hugh Watkins, Catherine Williamson, Geoffrey Woods, Sofie Ashford, John R. Bradley, Debra Fletcher, Tracey Hammerton, Roger James, Nathalie Kingston, Christopher J. Penkett, Kathleen Stirrups, Marijke Veltman, Tim Young, Matthew A. Brown, Emma Clement, John Davis, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Amy Frary, Rachel Linger, Jennifer M. Martin, Sofia Papadia, Karola Rehnström, Hannah Stark, David Allsup, Steve Austin, Tamam Bakchoul, Tadbir K. Bariana, Paula Bolton‐Maggs, Elizabeth Chalmers, Janine Collins, Peter Collins, Wendy N. Erber, Tamara Everington, Rémi Favier, Kathleen Freson, Bruce Furie, Michael Gattens, Johanna Gebhart, Keith Gomez, Daniel Greene, Andreas Greinacher, Paolo Gresele, Daniel Hart, Johan W. M. Heemskerk, Yvonne Henskens, Rashid Kazmi, David Keeling, Anne M. Kelly, Michele P. Lambert, Claire Lentaigne, Ri Liesner, Μichael Μakris, Sarah Mangles, Mary Mathias, Carolyn M. Millar, Andrew Mumford, Paquita Nurden, Jeanette Payne, John Pasi, Kathelijne Peerlinck, Shoshana Revel‐Vilk, Michael Richards

    Published 2018
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  20. 20
    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias by Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr, Ivana A. Souza, Candace T. Myers, Betül Seher Uysal, Niklas Schwarz, María A. Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Héron, Caroline Nava, Stéphanie Valence, Julien Buratti, Christina Fagerberg, Kristina P. Soerensen, Maria Kibæk, Erik‐Jan Kamsteeg, David A. Koolen, Boudewijn Gunning, Helenius J. Schelhaas, Michael C. Kruer, Jordana Fox, Somayeh Bakhtiari, Randa Jarrar, Sergio Padilla-López, Kristin Lindstrom, Sheng Chih Jin, Xue Zeng, Kaya Bilgüvar, Antigone Papavasileiou, Qinghe Xing, Changlian Zhu, Katja Boysen, Filippo Pinto e Vairo, Brendan C. Lanpher, Eric W. Klee, Jan‐Mendelt Tillema, Eric T. Payne, Margot A. Cousin, Teresa Kruisselbrink, Myra J. Wick, Joshua Baker, Eric Haan, Nicholas Smith, Azita Sadeghpour, Erica E. Davis, Nicholas Katsanis, Mark Corbett, Alastair H. MacLennan, Jozef Gécz, Saskia Biskup, Eva Goldmann, Lance H. Rodan, Elizabeth Kichula, Eric Segal, Kelly E. Jackson, Alexander Asamoah, David Dimmock, Julie McCarrier, Lorenzo D. Botto, Francis Filloux, Tatiana Tvrdik, Gregory D. Cascino, Sherry Klingerman, Catherine M. Neumann, Raymond Wang, Jessie C. Jacobsen, Melinda Nolan, Russell G. Snell, Klaus Lehnert, Lynette G. Sadleir, Britt‐Marie Anderlid, Malin Kvarnung, Renzo Guerrini, Michael J. Friez, Michael J. Lyons, Jennifer Leonhard, Gabriel Kringlen, Kari Casas, Christelle Moufawad El Achkar, Lacey Smith, Alexander Rotenberg, Annapurna Poduri, Alba Sanchis‐Juan, Keren Carss, Julia Rankin, Adam Zeman, F. Lucy Raymond, Moira Blyth, Bronwyn Kerr, Karla Ruiz, Jill Urquhart, Imelda Hughes, Siddharth Banka, Ulrike B. S. Hedrich, Ingrid E. Scheffer

    Published 2018
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