Suchergebnisse - Steven Laurie

  • Treffer 1 - 12 von 12
Treffer weiter einschränken
  1. 1
    Accelerated Evolution after Gene Duplication: A Time-Dependent Process Affecting Just One Copy

    Accelerated Evolution after Gene Duplication: A Time-Dependent Process Affecting Just One Copy von Cinta Pegueroles, Steven Laurie, M. Mar Albà

    Veröffentlicht 2013
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  2. 2
    Improving Genome-Wide Scans of Positive Selection by Using Protein Isoforms of Similar Length

    Improving Genome-Wide Scans of Positive Selection by Using Protein Isoforms of Similar Length von José Luis Villanueva‐Cañas, Steven Laurie, M. Mar Albà

    Veröffentlicht 2013
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  3. 3
    From Wet‐Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing

    From Wet‐Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing von Steven Laurie, Marcos Fernández-Callejo, Santiago Marco‐Sola, Jean-Rémi Trotta, Jordi Camps, Alejandro Chacón, Antonio Espinosa, Marta Gut, Marta Gut, Simon Heath, Sergi Beltrán

    Veröffentlicht 2016
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  4. 4
    New spinocerebellar ataxia subtype caused by<i>SAMD9L</i>mutation triggering mitochondrial dysregulation (SCA49)

    New spinocerebellar ataxia subtype caused by<i>SAMD9L</i>mutation triggering mitochondrial dysregulation (SCA49) von Marc Corral‐Juan, Pilar Casquero, Natalia Giraldo-Restrepo, Steven Laurie, Alicia Martínez‐Piñeiro, Raidili Cristina Mateo-Montero, Lourdes Ispierto, Dolores Vilas, Eduardo Tolosa, Vı́ctor Volpini, Ramiro Alvarez-Ramo, Ivelisse Sánchez, Antoni Matilla‐Dueñas

    Veröffentlicht 2022
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  5. 5
    Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

    Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes von Iker Núñez‐Carpintero, Maria Rigau, Mattia Bosio, Emily O’Connor, Sally Spendiff, Yoshiteru Azuma, Ana Töpf, Rachel Thompson, Peter A.C. ‘t Hoen, Teodora Chamova, Ivailo Tournev, Velina Guergueltcheva, Steven Laurie, Sergi Beltrán, Salvador Capella-Gutiérrez, Davide Cirillo, Hanns Lochmüller, Alfonso Valencia

    Veröffentlicht 2024
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  6. 6
    Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort

    Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort von Kiran Polavarapu, B. Sunitha, Ana Töpf, Veeramani Preethish‐Kumar, Rachel Thompson, Seena Vengalil, Saraswati Nashi, Mainak Bardhan, Sai Bhargava Sanka, Akshata Huddar, Gopikrishnan Unnikrishnan, Gautham Arunachal, Manu Santhappan Girija, Anna Porter, Yoshiteru Azuma, Paulo José Lorenzoni, Dipti Baskar, Ram Murthy Anjanappa, Madassu Keertipriya, Hansashree Padmanabh, Ganaraja Valakunja Harikrishna, Steven Laurie, Leslie Matalonga, Rita Horváth, Atchayaram Nalini, Hanns Lochmüller

    Veröffentlicht 2023
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  7. 7
    Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

    Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes von German Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graeßner, Siddharth Banka, Alfons Macaya, Belén Pérez-Dueñas, Adam Jackson, Giovanni Stévanin, Jean‐Madeleine de Sainte Agathe, Markéta Havlovičová, Rita Horváth, Michele Pinelli, Nienke J.H. van Os, Bart P.C. van de Warrenburg, Anne‐Sophie Denommé‐Pichon, Marco Savarese, Mridul Johari, Bruno Dallapiccola, Marco Tartaglia, Martje G. Pauly, Anna Katharina Sommer, Tobias B. Haack, Ana Töpf, Didier Lacombe, Chiara Fallerini, Alessandra Renieri, Patrick F. Chinnery, Daniel Natera‐de Benito, A. Nascimento, Aurélien Trimouille, Francina Munell, Anna Marcé‐Grau, Ben Yaou Rabah, Gisèle Bonne, Liedewei Van de Vondel, Katja Lohmann, Stephan Ossowski

    Veröffentlicht 2024
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  8. 8
    Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

    Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases von Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Richarda M. de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, Stephan Ossowski, Peter A.C. ‘t Hoen, Antonio Vitobello, Julia M. Schulze‐Hentrich, Olaf Rieß, Han G. Brunner, Anthony J. Brookes, Ana Rath, Gisèle Bonne, Gulcin Gumus, Alain Verloès, Nicoline Hoogerbrugge, Teresinha Evangelista, Tina Harmuth, Morris A. Swertz, Dylan Spalding, Alexander Hoischen, Sergi Beltrán, Holm Graeßner, Tobias B. Haack, Birte Zurek, Kornelia Ellwanger, German Demidov, Marc Sturm, Christoph Keßler, Melanie Wayand, Carlo Wilke, Andreas Traschütz, Lüdger Schöls, Holger Hengel, Peter Heutink, Han G. Brunner, Hans Scheffer, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldız, Tjitske Kleefstra, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton‐Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Yannis Duffourd, Émilie Tisserant, Ange‐Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltrán, Marta Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvò, Carles García, Marcos Fernandez-Callejo, Carles Hernández-Ferrer, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros‐Facer, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem

    Veröffentlicht 2021
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  9. 9
    The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

    The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases von Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvò, Carles García, Marcos Fernández-Callejo, Carles Hernández-Ferrer, Cristina Luengo, Anastasios Papakonstantinou, Joan Protassio, Inés Martínez, Daniel Picó, Rachel Thompson, Raúl Tonda, Mónica Bayés, Gemma Bullich, Jordi Camps, Ida Paramonov, Jean-Rémi Trotta, Ángel Alonso, Marcella Attimonelli, Christophe Béroud, Virginie Bros‐Facer, Orion J. Buske, Andrés Cañada, José M. Fernández, Mats Hansson, Rita Horváth, Julius O.B. Jacobsen, Rajaram Kaliyaperumal, Séverine Lair, Luana Licata, Pedro Lopes, Estrella López‐Martín, Deborah Mascalzoni, Lucía Monaco, Luis Pérez Jurado, Manuel Posada de la Paz, Jordi Rambla, Ana Rath, Olaf Rieß, Peter N. Robinson, Damian Smedley, Dylan Spalding, Peter A.C. ‘t Hoen, Ana Töpf, Irina Zaharieva, Holm Graeßner, Marta Gut, Hanns Lochmüller, Sergi Beltrán

    Veröffentlicht 2022
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  10. 10
    Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

    Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing von Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A. Yépez, Anna Esteve‐Codina, Julien Gagneur, Kornelia Ellwanger, Ronny Derks, Marjan M. Weiss, Amber den Ouden, Simone van den Heuvel, Hilde Swinkels, Nick Zomer, Marloes Steehouwer, Luke O’Gorman, Galuh Astuti, Kornelia Neveling, Rebecca Schüle, Jishu Xu, Matthis Synofzik, Danique Beijer, Holger Hengel, Lüdger Schöls, Kristl G. Claeys, Jonathan Baets, Liedewei Van de Vondel, Alessandra Ferlini, Rita Selvatici, Heba Morsy, Marwa Saeed Abd Elmaksoud, Volker Straub, Juliane Müller, Veronica Pini, Luke Perry, Anna Sárközy, Irina Zaharieva, Francesco Muntoni, Enrico Bugiardini, Kiran Polavarapu, Rita Horváth, Evan Reid, Hanns Lochmüller, Marco Spinazzi, Marco Savarese, Leslie Matalonga, Steven Laurie, Han G. Brunner, Holm Graeßner, Sergi Beltrán, Stephan Ossowski, Lisenka E.L.M. Vissers, Christian Gilissen, Alexander Hoischen

    Veröffentlicht 2024
    Volltext Volltext
    Pré-impressão
    Zu den Favoriten
    Gespeichert in:
  11. 11
    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data von Leslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne‐Sophie Denommé‐Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Leslie Matalonga, Isabelle Nelson, Sophia Peters, Ida Paramonov, Prasanth Sivakumar, Peter N. Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Joeri K. van der Velde, Antonio Vitobello, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Lisenka E.L.M. Vissers, Richarda de Voer, Stefan Aretz, Gabriel Capellà, Richarda M. de Voer, D. Gareth Evans, José Garcia‐Pelaez, Elke Holinski‐Feder, Nicoline Hoogerbrugge, Andreas Laner, Carla Oliveíra, Andreas Rump, Evelin Schröck, Anna Katharina Sommer, Verena Steinke‐Lange, Iris te Paske, Marc Tischkowitz, Laura Valle, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton‐Smith, Bruno Dallapiccola, Elke de Boer, Anne‐Sophie Denommé‐Pichon, Kornelia Ellwanger, Laurence Faivre, Holm Graessner, Tobias B. Haack, Anna Hammarsjö, Markéta Havlovičová, Alexander Hoischen, Anne Hugon, Adam Jackson, Tjitske Kleefstra, Anna Lindstrand, Estrella López‐Martín, Milan Macek, Manuela Morleo, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Annalaura Torella, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukáš Ryba, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Aurélien Trimouille, Alain Verloès, Lisenka E.L.M. Vissers, Antonio Vitobello, Pavel Votýpka, Klea Vyshka, Birte Zurek, Jonathan Baets, Danique Beijer, Gisèle Bonne, Enzo Cohen, Judith Cossins, Teresinha Evangelista, Alessandra Ferlini, Peter Hackman, Michael G. Hanna, Rita Horváth, Henry Houlden, Mridul Johari, Jarred Lau

    Veröffentlicht 2021
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  12. 12
    Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

    Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses von Steven Laurie, Iris te Paske, Nienke van Os, Kiran Polavarapu, Nika Schuermans, Anna Sommer, German Demidov, Kornelia Ellwanger, Marcos Fernandez-Callejo, Coline Thomas, Stefan Aretz, Jonathan Baets, Elisa Benetti, Gemma Bullich, Patrick F. Chinnery, Jordi Díaz‐Manera, Enzo Cohen, Daniel Daniš, Jean‐Madeleine de Sainte Agathe, Anne‐Sophie Denommé‐Pichon, Jordi Díaz‐Manera, Stéphanie Efthymiou, Laurence Faivre, Marcos Fernandez-Callejo, Mallory Freeberg, José Garcia‐Pelaez, Léna Guillot‐Noël, Tobias B. Haack, Michael G. Hanna, Holger Hengel, Rita Horváth, Henry Houlden, Adam Jackson, Lennart Johansson, Anna Marcé‐Grau, Erik-Jan Kamsteeg, Melanie Kellner, Elke de Boer, Didier Lacombe, Hanns Lochmüller, Estrella López‐Martín, Alfons Macaya, Anna Marcé‐Grau, Aleš Maver, Mary Reilly, Francesco Muntoni, Francesco Musacchia, Gisèle Bonne, Vincenzo Nigro, Catarina Olimpio, Carla Oliveíra, Jaroslava Paulasová Schwabová, Martje G. Pauly, Borut Peterlin, Sophia Peters, Rolph Pfundt, Giulio Piluso, Davide Piscia, Manuel Posada, Selina Reich, Alessandra Renieri, Lukáš Ryba, Karolis Šablauskas, Marco Savarese, Lüdger Schöls, Leon Schütz, Verena Steinke‐Lange, Giovanni Stévanin, Volker Straub, Marc Sturm, Morris A. Swertz, Marco Tartaglia, Iris te Paske, Rachel Thompson, Annalaura Torella, Christina Trainor, Bjarne Udd, Liedewei Van de Vondel, Bart van de Warrenburg, Jeroen van Reeuwijk, Jana Vandrovcová, Antonio Vitobello, Janet R. Vos, Emílie Vyhnálková, Robin Wijngaard, Carlo Wilke, Doreen William, Jishu Xu, Burcu Yaldız, Luca Zalatnai, Birte Zurek, Richarda M. de Voer, Iris te Paske, Nienke van Os, Jean‐Madeleine de Sainte Agathe, Liedewei Van de Vondel, Bart van de Warrenburg, Lisenka E.L.M. Vissers, Anthony J. Brookes, Teresinha Evangelista

    Veröffentlicht 2025
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:

Suchwerkzeuge: