Steven Laurie (Steve Laurie)

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 13

Top Topics

Clinical Decision Support

Diabetic Retinopathy

Loop Mediated Isothermal Amplification

Top Venues

European journal of human genetics : EJHG

medRxiv : the preprint server for health sciences

This page only lists publications with an associated author ORCID identifier.

Publications

German Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graessner, Siddharth Banka, null null, Katja Lohmann, Stephan Ossowski
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes. European journal of human genetics : EJHG 32 (8) (2024)
German Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graessner, Siddharth Banka, null null, Katja Lohmann, Stephan Ossowski
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes. European journal of human genetics : EJHG 32 (8) (2024)
Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A Yépez, Anna Esteve-Codina, Julien Gagneur, Kornelia Ellwanger, Ronny Derks, Janneke 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, Ludger 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 Sarkozy, Irina T Zaharieva, Francesco Muntoni, Enrico Bugiardini, Kiran Polavarapu, Rita Horvath, Evan Reid, Hanns Lochmüller, Marco Spinazzi, Marco Savarese, null null, null null, null null, null null, Leslie Matalonga, Steven Laurie, Han G Brunner, Holm Graessner, Sergi Beltran, Stephan Ossowski, Lisenka E L M Vissers, Christian Gilissen, Alexander Hoischen
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing. medRxiv : the preprint server for health sciences (2024)
Lennart F Johansson, Steven Laurie, J Dylan Spalding, Spencer J Gibson, David Ruvolo, Coline Thomas, Davide Piscia, Fernanda de Andrade, Gerieke Been, Marieke Bijlsma, Han G Brunner, Sandi Cimerman, Farid Yavari Dizjikan, Kornelia Ellwanger, Marcos Fernandez-Callejo, Mallory Ann Freeberg, Gert-Jan van de Geijn, Roan Kanninga, Vatsalya Maddi, Mehdi Mehtarizadeh, Pieter B Neerincx, Stephan Ossowski, Ana Rath, Dieuwke Roelofs-Prins, Marloes Stok-Benjamins, K Joeri Van der Velde, Colin D Veal, Gerben van der Vries, Marc Wadsley, Gregory Warren, Birte Zurek, Thomas M Keane, Holm Graessner, Sergi Beltran, Morris A Swertz, Anthony J Brookes, null null
An interconnected data infrastructure to support large-scale rare disease research. GigaScience 13 (2024)
German Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graessner, Siddharth Banka, null null, Katja Lohmann, Stephan Ossowski
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes. European journal of human genetics : EJHG (2024)
German Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graessner, Siddharth Banka, null null, Katja Lohmann, Stephan Ossowski
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes. European journal of human genetics : EJHG 32 (8) (2024)
German Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graessner, Siddharth Banka, null null, Katja Lohmann, Stephan Ossowski
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes. European journal of human genetics : EJHG 32 (8) (2024)
Robin Wijngaard, German Demidov, Luke O'Gorman, Jordi Corominas-Galbany, Burcu Yaldiz, Wouter Steyaert, Elke de Boer, Lisenka E L M Vissers, Erik-Jan Kamsteeg, Rolph Pfundt, Hilde Swinkels, Amber den Ouden, Iris B A W Te Paske, Richarda M de Voer, Laurence Faivre, Anne Sophie Denommé-Pichon, Yannis Duffourd, Antonio Vitobello, Martin Chevarin, Volker Straub, Ana Topf, Anneke J van der Kooi, Francesca Magrinelli, Clarissa Rocca, Michael G Hanna, Jana Vandrovcova, null null, Stephan Ossowski, Steven Laurie, Christian Gilissen
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples. European journal of human genetics : EJHG (2023)
Robin Wijngaard, German Demidov, Luke O'Gorman, Jordi Corominas-Galbany, Burcu Yaldiz, Wouter Steyaert, Elke de Boer, Lisenka E L M Vissers, Erik-Jan Kamsteeg, Rolph Pfundt, Hilde Swinkels, Amber den Ouden, Iris B A W Te Paske, Richarda M de Voer, Laurence Faivre, Anne Sophie Denommé-Pichon, Yannis Duffourd, Antonio Vitobello, Martin Chevarin, Volker Straub, Ana Topf, Anneke J van der Kooi, Francesca Magrinelli, Clarissa Rocca, Michael G Hanna, Jana Vandrovcova, null null, Stephan Ossowski, Steven Laurie, Christian Gilissen
Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples. European journal of human genetics : EJHG (2023)
Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvó, Marcos Fernandez-Callejo, Carles Garcia-Linares, Carles Hernandez-Ferrer, Cristina Luengo, Inés Martínez, Anastasios Papakonstantinou, Daniel Picó-Amador, Joan Protasio, Rachel Thompson, Raul Tonda, Mònica Bayés, Gemma Bullich, Jordi Camps-Puchadas, Ida Paramonov, Jean-Rémi Trotta, Angel Alonso, Marcella Attimonelli, Christophe Béroud, Virginie Bros-Facer, Orion J Buske, Andrés Cañada-Pallarés, José María Fernandez, Mats G Hansson, Rita Horvath, Julius O B Jacobsen, Rajaram Kaliyaperumal, Séverine Lair-Préterre, Luana Licata, Pedro Lopes, Estrella López-Martín, Deborah Mascalzoni, Lucia Monaco, Luis A Pérez-Jurado, Manuel Posada-de-la-Paz, Jordi Rambla De Argila, Ana Rath, Olaf H Rieß, Peter Nick Robinson, David Salgado, Damian Smedley, J Dylan Spalding, Peter A C 't Hoen, Ana Topf, Irina T Zaharieva, Holm Graessner, Ivo Glynne Gut, Hanns Lochmüller, Sergi Beltran
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. Human mutation 43 (6) (2022)
Francesco Musacchia, Marianthi Karali, Annalaura Torella, Steven Laurie, Valeria Policastro, Mariateresa Pizzo, Sergi Beltran, Giorgio Casari, Vincenzo Nigro, Francesca Simonelli
VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage. Genes 12 (12) (2021)
Rebecca Schüle, Dagmar Timmann, Corrie E Erasmus, Jennifer Reichbauer, Melanie Wayand, null null, Bart van de Warrenburg, Ludger Schöls, Carlo Wilke, Andrea Bevot, Stephan Zuchner, Sergi Beltran, Steven Laurie, Leslie Matalonga, Holm Graessner, Matthis Synofzik, null null
Solving unsolved rare neurological diseases-a Solve-RD viewpoint. European journal of human genetics : EJHG 29 (9) (2021)
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 Verloes, Nicoline Hoogerbrugge, Teresinha Evangelista, Tina Harmuth, Morris Swertz, J Dylan Spalding, Alexander Hoischen, Sergi Beltran, Holm Graessner, null null
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. European journal of human genetics : EJHG 29 (9) (2021)