Holm Graessner

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 27

Top Topics

Clinical Decision Support

Top Venues

European journal of human genetics : EJHG

RNA (New York, N.Y.)

Orphanet journal of rare diseases

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

Publications

Holm Graessner, Carola Reinhard, Tobias Bäumer, Annette Baumgärtner, Knut Brockmann, Norbert Brüggemann, Eva Bültmann, Jeanette Erdmann, Kirstin Heise, Günter Höglinger, Irina Hüning, Frank J Kaiser, Christine Klein, Thomas Klopstock, Ingeborg Krägeloh-Mann, Markus Kraemer, Kerstin Luedtke, Martin Mücke, Thomas Musacchio, Andreas Nadke, Alma Osmanovic, Gabriele Ritter, Katharina Röse, Christopher Schippers, Ludger Schöls, Rebecca Schüle, Jörg B Schulz, Joachim Sproß, Eveline Stasch, Gilbert Wunderlich, Alexander Münchau
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases. Orphanet journal of rare diseases 19 (1) (2024)
Aleš Maver, Katja Lohmann, Fran Borovečki, Nicola Wolstenholme, Rachel L Taylor, Malte Spielmann, Tobias B Haack, Matthias Gerberding, Borut Peterlin, Holm Graessner
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network. European journal of human genetics : EJHG 32 (8) (2024)
Aleš Maver, Katja Lohmann, Fran Borovečki, Nicola Wolstenholme, Rachel L Taylor, Malte Spielmann, Tobias B Haack, Matthias Gerberding, Borut Peterlin, Holm Graessner
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network. 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)
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)
Holm Graessner, Carola Reinhard, Tobias Bäumer, Annette Baumgärtner, Knut Brockmann, Norbert Brüggemann, Eva Bültmann, Jeanette Erdmann, Kirstin Heise, Günter Höglinger, Irina Hüning, Frank J Kaiser, Christine Klein, Thomas Klopstock, Ingeborg Krägeloh-Mann, Markus Kraemer, Kerstin Luedtke, Martin Mücke, Thomas Musacchio, Andreas Nadke, Alma Osmanovic, Gabriele Ritter, Katharina Röse, Christopher Schippers, Ludger Schöls, Rebecca Schüle, Jörg B Schulz, Joachim Sproß, Eveline Stasch, Gilbert Wunderlich, Alexander Münchau
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases. Orphanet journal of rare diseases 19 (1) (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)
Aleš Maver, Katja Lohmann, Fran Borovečki, Nicola Wolstenholme, Rachel L Taylor, Malte Spielmann, Tobias B Haack, Matthias Gerberding, Borut Peterlin, Holm Graessner
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network. 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 (2024)
Aleš Maver, Katja Lohmann, Fran Borovečki, Nicola Wolstenholme, Rachel L Taylor, Malte Spielmann, Tobias B Haack, Matthias Gerberding, Borut Peterlin, Holm Graessner
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network. 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)
Aleš Maver, Katja Lohmann, Fran Borovečki, Nicola Wolstenholme, Rachel L Taylor, Malte Spielmann, Tobias B Haack, Matthias Gerberding, Borut Peterlin, Holm Graessner
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network. European journal of human genetics : EJHG (2024)
Holm Graessner, Carola Reinhard, Tobias Bäumer, Annette Baumgärtner, Knut Brockmann, Norbert Brüggemann, Eva Bültmann, Jeanette Erdmann, Kirstin Heise, Günter Höglinger, Irina Hüning, Frank J Kaiser, Christine Klein, Thomas Klopstock, Ingeborg Krägeloh-Mann, Markus Kraemer, Kerstin Luedtke, Martin Mücke, Thomas Musacchio, Andreas Nadke, Alma Osmanovic, Gabriele Ritter, Katharina Röse, Christopher Schippers, Ludger Schöls, Rebecca Schüle, Jörg B Schulz, Joachim Sproß, Eveline Stasch, Gilbert Wunderlich, Alexander Münchau
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases. Orphanet journal of rare diseases 19 (1) (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)
David Lagorce, Emeline Lebreton, Leslie Matalonga, Oscar Hongnat, Maroua Chahdil, Davide Piscia, Ida Paramonov, Kornelia Ellwanger, Sebastian Köhler, Peter Nick Robinson, Holm Graessner, Sergi Beltran, Caterina Lucano, Marc Hanauer, Ana Rath
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report. European journal of human genetics : EJHG (2023)
Annemieke M Aartsma-Rus, Willeke M C van Roon-Mom, Marlen C Lauffer, Christine Siezen, Britt Duijndam, Tineke Coenen-de Roo, Rebecca Schüle, Matthis Synofzik, Holm Graessner
Development of tailored splice switching oligonucleotides for progressive brain disorders in Europe: development, regulation and implementation considerations. RNA (New York, N.Y.) (2023)
Annemieke M Aartsma-Rus, Willeke M C van Roon-Mom, Marlen C Lauffer, Christine Siezen, Britt Duijndam, Tineke Coenen-de Roo, Rebecca Schüle, Matthis Synofzik, Holm Graessner
Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations. RNA (New York, N.Y.) 29 (4) (2023)
Annemieke M Aartsma-Rus, Willeke M C van Roon-Mom, Marlen C Lauffer, Christine Siezen, Britt Duijndam, Tineke Coenen-de Roo, Rebecca Schüle, Matthis Synofzik, Holm Graessner
Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations. RNA (New York, N.Y.) 29 (4) (2023)
Annemieke M Aartsma-Rus, Willeke M C van Roon-Mom, Marlen C Lauffer, Christine Siezen, Britt Duijndam, Tineke Coenen-de Roo, Rebecca Schüle, Matthis Synofzik, Holm Graessner
Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations. RNA (New York, N.Y.) 29 (4) (2023)
Annemieke M Aartsma-Rus, Willeke M C van Roon-Mom, Marlen C Lauffer, Christine Siezen, Britt Duijndam, Tineke Coenen-de Roo, Rebecca Schüle, Matthis Synofzik, Holm Graessner
Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations. RNA (New York, N.Y.) 29 (4) (2023)
Erika Souche, Sergi Beltran, Erwin Brosens, John W Belmont, Magdalena Fossum, Olaf Riess, Christian Gilissen, Amin Ardeshirdavani, Gunnar Houge, Marielle E van Gijn, Jill Clayton-Smith, Matthis Synofzik, Nicole de Leeuw, Zandra C Deans, Yasemin Dincer, Sebastian H Eck, Saskia van der Crabben, Meena Balasubramanian, Holm Graessner, Marc Sturm, Helen Firth, Alessandra Ferlini, Rima Nabbout, Elfride De Baere, Thomas Liehr, Milan Macek, Gert Matthijs, Hans Scheffer, Peter Bauer, Helger G Yntema, Janneke M Weiss
Recommendations for whole genome sequencing in diagnostics for rare diseases. European journal of human genetics : EJHG 30 (9) (2022)
Alicia Brunelle Praschberger, Annemarie E M Post, Sanja Hermanns, Holm Graessner
Establishing and boosting communication in the European Reference Network for Rare Neurological Diseases (ERN-RND): the impact of offering free educational webinars. Orphanet journal of rare diseases 17 (1) (2022)
Monika Benson, Alberto Albanese, Kailash P Bhatia, Pascale Cavillon, Lorraine Cuffe, Kathrin König, Carola Reinhard, Holm Graessner
Development of a patient journey map for people living with cervical dystonia. Orphanet journal of rare diseases 17 (1) (2022)
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)
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)
Leslie Matalonga, Carles Hernandez-Ferrer, Davide Piscia, null null, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Lisenka E L M Vissers, Richarda M de Voer, null null, null null, null null, null null, Raul Tonda, Steven Laurie, Marcos Fernandez-Callejo, Daniel Picó, Carles Garcia-Linares, Anastasios Papakonstantinou, Alberto Corvó, Ricky Joshi, Hector Diez, Ivo Glynne Gut, Alexander Hoischen, Holm Graessner, Sergi Beltran, null null
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. 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)