Hakutulokset - Mark F. Bennett

  • Näytetään 1 - 17 yhteensä 17 tuloksesta
Tarkenna hakua
  1. 1
    Recent advances in the detection of repeat expansions with short-read next-generation sequencing

    Recent advances in the detection of repeat expansions with short-read next-generation sequencing Tekijä Melanie Bahlo, Mark F. Bennett, Peter Degorski, Rick M. Tankard, Martin B. Delatycki, Paul J. Lockhart

    Julkaistu 2018
    Hae kokoteksti Hae kokoteksti
    Pré-impressão
    Lisää suosikkeihin
    Tallennettuna:
  2. 2
    Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data

    Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data Tekijä Rick M. Tankard, Mark F. Bennett, Peter Degorski, Martin B. Delatycki, Paul J. Lockhart, Melanie Bahlo

    Julkaistu 2018
    Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  3. 3
    <scp>Genes4Epilepsy</scp>: An epilepsy gene resource

    <scp>Genes4Epilepsy</scp>: An epilepsy gene resource Tekijä Karen Oliver, Ingrid E. Scheffer, Mark F. Bennett, Bronwyn E. Grinton, Melanie Bahlo, Samuel F. Berkovic

    Julkaistu 2023
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  4. 4
    <scp><i>PAK3</i></scp> pathogenic variant associated with sleep‐related hypermotor epilepsy in a family with parental mosaicism

    <scp><i>PAK3</i></scp> pathogenic variant associated with sleep‐related hypermotor epilepsy in a family with parental mosaicism Tekijä Antonio Gambardella, Y. C. Liu, Mark F. Bennett, Timothy E. Green, John A. Damiano, Francesco Fortunato, Matthew Coleman, Jacqueline Cherfils, Jean‐Vianney Barnier, Jozef Gécz, Melanie Bahlo, Samuel F. Berkovic, Michael S. Hildebrand

    Julkaistu 2025
    Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  5. 5
    ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

    ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data Tekijä Egor Dolzhenko, Mark F. Bennett, Phillip A. Richmond, Brett Trost, Sai Chen, Joke J.F.A. van Vugt, Charlotte Nguyen, Giuseppe Narzisi, Vladimir G. Gainullin, Andrew M. Gross, Bryan R. Lajoie, Ryan J. Taft, Wyeth W. Wasserman, Stephen W. Scherer, Jan H. Veldink, David Bentley, Ryan K. C. Yuen, Melanie Bahlo, Michael A. Eberle

    Julkaistu 2020
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  6. 6
    Connecting omics signatures of diseases, drugs, and mechanisms of actions with iLINCS

    Connecting omics signatures of diseases, drugs, and mechanisms of actions with iLINCS Tekijä Marcin Pilarczyk, Michal Kouril, Behrouz Shamsaei, Juozas Vasiliauskas, Wen Niu, Naim Al Mahi, Lixia Zhang, Nicholas A. Clark, Yan Ren, Shana White, Rashid Karim, Huan Xu, Jacek Biesiada, Mark F. Bennett, Sarah E. Davidson, John F. Reichard, Kurt E. Roberts, Vasileios Stathias, Amar Koleti, D. Vidović, Daniel Clarke, Stephan C. Schürer, Avi Ma’ayan, Jarek Meller, Mario Medvedovic

    Julkaistu 2019
    Hae kokoteksti Hae kokoteksti
    Pré-impressão
    Lisää suosikkeihin
    Tallennettuna:
  7. 7
    Connecting omics signatures and revealing biological mechanisms with iLINCS

    Connecting omics signatures and revealing biological mechanisms with iLINCS Tekijä Marcin Pilarczyk, Mehdi Fazel‐Najafabadi, Michal Kouril, Behrouz Shamsaei, Juozas Vasiliauskas, Wen Niu, Naim Al Mahi, Lixia Zhang, Nicholas A. Clark, Yan Ren, Shana White, Rashid Karim, Huan Xu, Jacek Biesiada, Mark F. Bennett, Sarah E. Davidson, John F. Reichard, Kurt E. Roberts, Vasileios Stathias, Amar Koleti, D. Vidović, Daniel Clarke, Stephan C. Schürer, Avi Ma’ayan, Jarek Meller, Mario Medvedovic

    Julkaistu 2022
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  8. 8
    REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

    REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats Tekijä Egor Dolzhenko, Ben Weisburd, Kristina Ibáñez, Indhu‐Shree Rajan‐Babu, Christine Anyansi, Mark F. Bennett, Kimberley J. Billingsley, Ashley Carroll, Samuel Clamons, Matt C. Danzi, Viraj Deshpande, Jinhui Ding, Sarah Fazal, Andreas Halman, Bharati Jadhav, Yunjiang Qiu, Phillip A. Richmond, Christopher T. Saunders, Konrad Scheffler, Joke J.F.A. van Vugt, Ramona R. A. J. Zwamborn, Samuel S. Chong, Jan M. Friedman, Arianna Tucci, Heidi L. Rehm, Michael A. Eberle

    Julkaistu 2022
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  9. 9
    An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

    An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 Tekijä Haloom Rafehi, Justin Read, David J. Szmulewicz, Kayli C. Davies, Penny Snell, Liam G. Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F. Bennett, Jacob E. Munro, Kathie J. Ngo, Luke Chen, Mathew Wallis, Ernest Butler, Kishore R. Kumar, Kathy H. C. Wu, Susan E. Tomlinson, Stephen Tisch, Abhishek Malhotra, Matthew Lee‐Archer, Egor Dolzhenko, Michael A. Eberle, L. Jackson Roberts, Brent L. Fogel, Norbert Brüggemann, Katja Lohmann, Martin B. Delatycki, Melanie Bahlo, Paul J. Lockhart

    Julkaistu 2022
    Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  10. 10
    An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

    An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 Tekijä Haloom Rafehi, Justin Read, David J. Szmulewicz, Kayli C. Davies, Penny Snell, Liam G. Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F. Bennett, Jacob E. Munro, Kathie J. Ngo, Luke Chen, Mathew Wallis, Ernest Butler, Kishore R. Kumar, Kathy H. C. Wu, Susan E. Tomlinson, Stephen Tisch, Abhishek Malhotra, Matthew Lee‐Archer, Egor Dolzhenko, Michael A. Eberle, L. Jackson Roberts, Brent L. Fogel, Norbert Brüggemann, Katja Lohmann, Martin B. Delatycki, Melanie Bahlo, Paul J. Lockhart

    Julkaistu 2023
    Hae kokoteksti Hae kokoteksti
    Errata/Corrigenda
    Lisää suosikkeihin
    Tallennettuna:
  11. 11
    <i>SYNGAP1</i> encephalopathy

    <i>SYNGAP1</i> encephalopathy Tekijä Danique R.M. Vlaskamp, Benjamin J. Shaw, Rosemary Burgess, Davide Mei, Martino Montomoli, Han Xie, Candace T. Myers, Mark F. Bennett, Wenshu XiangWei, Danielle M. Williams, Saskia M. Maas, Alice S. Brooks, Grazia M.S. Mancini, Ingrid M.B.H. van de Laar, Johanna M. van Hagen, Tyson L. Ware, Richard F. Webster, Stephen Malone, Samuel F. Berkovic, Renate M. Kalnins, Federico Sicca, Georg-Christoph Korenke, Conny M.A. van Ravenswaaij‐Arts, Michael S. Hildebrand, Heather C. Mefford, Yuwu Jiang, Renzo Guerrini, Ingrid E. Scheffer

    Julkaistu 2018
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  12. 12
    Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

    Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS Tekijä Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett, Nara L. M. Sobreira, Kate Pope, Katherine R. Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A. Eberle, María García Barcina, David P. Breen, Andrew Chancellor, Phillip D. Cremer, Martin B. Delatycki, Brent L. Fogel, Anna Hackett, G. Michael Halmágyi, Solange Kapetanovic, Anthony E. Lang, Stuart Mossman, Weiyi Mu, Peter Patrikios, Susan Perlman, Ian Rosemergy, Elsdon Storey, Shaun R. D. Watson, Michael A. Wilson, David S. Zee, David Valle, David J. Amor, Melanie Bahlo, Paul J. Lockhart

    Julkaistu 2019
    Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  13. 13
    CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis

    CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis Tekijä Carol Dobson‐Stone, Marianne Hallupp, Hamideh Shahheydari, Audrey Ragagnin, Zac Chatterton, Francine Carew‐Jones, Claire E. Shepherd, Holly Stefen, Esmeralda Parić, Thomas Fath, Elizabeth M. Thompson, Peter Blumbergs, Cathy L. Short, Colin D. Field, Peter K. Panegyres, Jane Hecker, Garth A. Nicholson, Alex D. Shaw, Janice M. Fullerton, Agnes A. Luty, Peter R. Schofield, William S. Brooks, Neil Rajan, Mark F. Bennett, Melanie Bahlo, N.A. Shankaracharya, John E. Landers, Olivier Piguet, John R. Hodges, Glenda M. Halliday, Simon Topp, Bradley Smith, Christopher E. Shaw, Emily P. McCann, Jennifer A. Fifita, Kelly L. Williams, Julie D. Atkin, Ian P. Blair, John B. Kwok

    Julkaistu 2020
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  14. 14
    Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

    Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome Tekijä Adrián Palencia‐Campos, Phillip C. Aoto, Erik M.F. Machal, Ana Rivera‐Barahona, Patricia Soto‐Bielicka, Daniela Bertinetti, Blaine Baker, Lily Vu, Francesca Piceci‐Sparascio, Isabella Torrente, Eveline Boudin, Silke Peeters, Wim Van Hul, Céline Huber, Dominique Bonneau, Michael S. Hildebrand, Matthew Coleman, Melanie Bahlo, Mark F. Bennett, Amy L. Schneider, Ingrid E. Scheffer, Maria Kibæk, Britta Schlott Kristiansen, Mahmoud Y. Issa, Mennat Mehrez, Samira Ismail, Jair Tenorio, Gaoyang Li, Bjørn Steen Skålhegg, Ghada A. Otaify, Samia A. Temtamy, Mona Aglan, Aia Elise Jønch, Alessandro De Luca, Geert Mortier, Valérie Cormier‐Daire, Alban Ziegler, Mathew Wallis, Pablo Lapunzina, Friedrich W. Herberg, Susan S. Taylor, Víctor L. Ruiz‐Pérez

    Julkaistu 2020
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  15. 15
    Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

    Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 Tekijä Mark Corbett, Thessa Kroes, Liana Veneziano, Mark F. Bennett, Rahel T. Florian, Amy L. Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron M. Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid M. Regan, Douglas E. Crompton, Anne‐Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin A. Smith, Alfredo Berardelli, Renée Carroll, Alison Gardner, Kathryn Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Édouard Hirsch, Eric LeGuern, Pierre Labauge, Simona Balestrini, Josemir W. Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M. Sisodiya, Giorgio Casari, Lynette G. Sadleir, Riaan van Coller, Marina A.J. Tijssen, Karl Martin Klein, Arn M. J. M. van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel F. Berkovic, Tommaso Pippucci, Laura Canafoglia, Melanie Bahlo, Pasquale Striano, Ingrid E. Scheffer, Francesco Brancati, Christel Depienne, Jozef Gécz

    Julkaistu 2019
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  16. 16
    Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

    Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 Tekijä Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Éloi Magnin, Anne‐Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Gießelmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornéa, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean‐François Deleuze, Yannick Delpu, Mario Davide Maria Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Édouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpaß, Bernhard Horsthemke, Samuel F. Berkovic, Francesca Bisulli, Francesco Brancati, Laura Canafoglia, Giorgio Casari, Renzo Guerrini, Hiroyuki Ishiura, Laura Licchetta, Davide Mei, Tommaso Pippucci, Lynette G. Sadleir, Ingrid E. Scheffer, Pasquale Striano, Paolo Tinuper, Shoji Tsuji, Federico Zara, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gécz, Mark Corbett, Marina A.J. Tijssen, Arn M. J. M. van den Maagdenberg, Christel Depienne

    Julkaistu 2019
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  17. 17
    NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

    NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns Tekijä Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Bertelsen, Simone Mandelstam, Iris Lange, Jing Zhang, Candace T. Myers, Christina Fenger, Zaid Afawi, Edith P. Almanza Fuerte, Danielle M. Andrade, Yunus Balcik, Bruria Ben Zeev, Mark F. Bennett, Samuel F. Berkovic, Bertrand Isidor, Arjan Bouman, Eva H. Brilstra, Øyvind L. Busk, Anita Cairns, Roseline Caumes, Nicolas Chatron, Russell C. Dale, Christa de Geus, Patrick Edery, Deepak Gill, Jacob Bie Granild-Jensen, Lauren Gunderson, Boudewijn Gunning, Gali Heimer, Johan Robert Helle, Michael S. Hildebrand, Georgie Hollingsworth, Volodymyr Kharytonov, Eric W. Klee, Bobby P.C. Koeleman, David A. Koolen, Christian Korff, Sébastien Küry, Gaëtan Lesca, Dorit Lev, Richard J. Leventer, Mark T. Mackay, Erica L. Macke, Meriel McEntagart, Shekeeb S. Mohammad, Pauline Monin, Martino Montomoli, Éva Morava, Sébastien Moutton, Alison M. Muir, Elena Parrini, Peter Procopis, Emmanuelle Ranza, Laura Reed, Philipp S. Reif, Felix Rosenow, Massimiliano Rossi, Lynette G. Sadleir, Tara Sadoway, Helenius J. Schelhaas, Amy L. Schneider, Krati Shah, Ruth S. Shalev, Sanjay M. Sisodiya, Thomas Smol, Connie T. R. M. Stumpel, Kyra E. Stuurman, Joseph D. Symonds, Frédéric Tran Mau‐Them, Nienke E. Verbeek, Judith Verhoeven, Geoff Wallace, Keren Yosovich, Yuri A. Zárate, Ayelet Zerem, Sameer M. Zuberi, Renzo Guerrini, Heather C. Mefford, Chirag Patel, Yue-Hua Zhang, Rikke S. Møller, Ingrid E. Scheffer

    Julkaistu 2020
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:

Työkalut: