Hannah Stamberger onbezoldigd medewerker

Publicaties Hannah Stamberger

Heterozygous missense variants in the ATPase phospholipid transporting 9A gene, ATP9A, alter dendritic spine maturation and cause dominantly inherited nonsyndromic intellectual disability

Bron
Human mutation - ISSN 1059-7794-2025:1 (2025) p. 1-15
Auteur(s)
    Amelie Cordovado, Yvan Herenger, Coline Cormier, Estrella Lopez-Martin, Hannah Stamberger, Laurence Faivre, Anne-Sophie Denomme-Pichon, Antonio Vitobello, Hamza Hadj Abdallah, Giulia Barcia, Thomas Courtin, Beatriz Martinez-Delgado, Eva Bermejo-Sanchez, Maria J. Barrero, Brooklynn Gasser, Stephane Bezieau, Sebastien Kury, Sarah Weckhuysen, Frederic Laumonnier, Annick Toutain, Marie-Laure Vuillaume

Antisense oligonucleotides modulate aberrant inclusion of poison exons in SCN1A-related Dravet syndrome

Bron
JCI Insight - ISSN 2379-3708- (2025) p. 1-38
Auteur(s)

Early mortality in STXBP1-related disorders

Bron
Neurological sciences - ISSN 1590-1874-46:3 (2025) p. 1339-1347
Auteur(s)
    Francesca Furia, Charlene Son Rigby, Ingrid E. Scheffer, Nicholas Allen, Kate Baker, Christian Hengsbach, Josua Kegele, James Goss, Kathleen Gorman, Misra-Isrie Mala, Francesco Nicita, Talia Allan, Alberto Spalice, Yvonne Weber, Ganna Balagura, Bruria Benzeev, Hilgo Bruining, Alejandra Darling, Francesca Furia, Ángeles García Cazorla, Misra-Isrie Mala, Mathieu Milh, Rikke Steensbjerre Møller, Hannah Stamberger, Pasquale Striano, Steffen Syrbe, Kim Marie Thalwitzer, Matthijs Verhage, Sarah Weckhuysen, Guido Rubboli, Rikke S. Møller, Elena Gardella

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

Bron
Npj genomic medicine - ISSN 2056-7944-9:1 (2024) p. 1-24
Auteur(s)
    German Demidov, Burcu Yaldiz, José Garcia-Pelaez, Elke de Boer, Nika Schuermans, Liedewei Van de Vondel, Ida Paramonov, Lennart F. Johansson, Francesco Musacchia, Elisa Benetti, Gemma Bullich, Karolis Sablauskas, Sergi Beltran, Christian Gilissen, Alexander Hoischen, Stephan Ossowski, Richarda de Voer, Katja Lohmann, Carla Oliveira, Ana Topf, Lisenka E.L.M. Vissers, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Marc Sturm, Joohyun Park, Leon Schütz, Julia M. Schulze-Hentrich, Rebecca Schüle, Jishu Xu, Melanie Kellner, Baptist Resch, Ingrid Kolen, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Danique Beijer, Peter Heutink, Ludger Schöls, Holger Hengel, Holger Lerche, Liedewei Van de Vondel, Willem De Ridder, Sarah Weckhuysen, Hannah Stamberger, Charissa Millevert, Noor Smal, Steven Laurie

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Bron
Nature neuroscience - ISSN 1097-6256-27:10 (2024) p. 1864-1879
Auteur(s)
    Siwei Chen, Bassel W. Abou-Khalil, Zaid Afawi, Quratulain Zulfiqar Ali, Elisabetta Amadori, Alison Anderson, Joe Anderson, Danielle M. Andrade, Grazia Annesi, Mutluay Arslan, Pauls Auce, Melanie Bahlo, Mark D. Baker, Ganna Balagura, Simona Balestrini, Eric Banks, Carmen Barba, Karen Barboza, Fabrice Bartolomei, Nick Bass, Larry W. Baum, Tobias H. Baumgartner, Betül Baykan, Nerses Bebek, Felicitas Becker, Caitlin A. Bennett, Ahmad Beydoun, Claudia Bianchini, Francesca Bisulli, Douglas Blackwood, Ilan Blatt, Ingo Borggräfe, Christian Bosselmann, Vera Braatz, Harrison Brand, Knut Brockmann, Russell J. Buono, Robyn M. Busch, S. Hande Caglayan, Laura Canafoglia, Christina Canavati, Barbara Castellotti, Gianpiero L. Cavalleri, Felecia Cerrato, Francine Chassoux, Christina Cherian, Peter De Jonghe, Hannah Stamberger, Sarah Weckhuysen, Samuel F. Berkovic