Katrien Stouffs

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 6

Top Venues

Journal of medical genetics

Molecular genetics & genomic medicine

Nature reviews. Neurology

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

Publications

Mathilde Gras, Solveig Heide, Boris Keren, Stéphanie Valence, Catherine Garel, Sandra Whalen, Anna C Jansen, Kathelijn Keymolen, Katrien Stouffs, Mélanie Jennesson, Céline Poirsier, Gaëtan Lesca, Christel Depienne, Caroline Nava, Agnès Rastetter, Aurore Curie, Laurence Cuisset, Vincent Des Portes, Mathieu Milh, Perrine Charles, Cyril Mignot, Delphine Héron
Further characterisation of ARX -related disorders in females due to inherited or de novo variants. Journal of medical genetics (2023)
Stefanie Brock, Annie Laquerriere, Florent Marguet, Scott J Myers, Yuan Hongjie, Diana Baralle, Tim Vanderhasselt, Katrien Stouffs, Kathelijn Keymolen, Sukhan Kim, James Allen, Gil Shaulsky, Jamel Chelly, Pascale Marcorelle, Jacqueline Aziza, Laurent Villard, Elise Sacaze, Marie C Y de Wit, Martina Wilke, Grazia Maria Simonetta Mancini, Ute Hehr, Derek Lim, Shehla Mohammed, Stephen F Traynelis, Claire Beneteau, Marie Denis-Musquer, Anna C Jansen, Andrew E Fry, Nadia Bahi-Buisson
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B . Journal of medical genetics (2022)
Kevin Jehasse, Kathleen Jacquerie, Alice de Froidmont, Camille Lemoine, Thierry Grisar, Katrien Stouffs, Bernard Lakaye, Vincent Seutin
Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence. Molecular genetics & genomic medicine 9 (2) (2021)
Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, Kathelijn Keymolen, Luc Régal, Ludovica Pasca, Dagmar Wieczorek, Tim Matthias Storm, Karin Schaeferhoff, Ute Hehr, Alma Kuechler, Ingeborg Krägeloh-Mann, Tobias B Haack, Esmee Kasteleijn, Rachel Schot, Grazia Maria Simonetta Mancini, Richard Webster, Shekeeb Mohammad, Richard J Leventer, Ghayda Mirzaa, William B Dobyns, Nadia Bahi-Buisson, Marije Meuwissen, Anna C Jansen, Katrien Stouffs
Defining the phenotypical spectrum associated with variants in TUBB2A. Journal of medical genetics 58 (1) (2020)
Renske Oegema, Tahsin Stefan Barakat, Martina Wilke, Katrien Stouffs, Dina Amrom, Eleonora Aronica, Nadia Bahi-Buisson, Valerio Conti, Andrew E Fry, Tobias Geis, David Gomez Andres, Elena Parrini, Ivana Pogledic, Edith Said, Doriette Soler, Luis M Valor, Maha Saad Zaki, Ghayda M Mirzaa, William B Dobyns, Orly Reiner, Renzo Guerrini, Daniela T Pilz, Ute Hehr, Richard J Leventer, Anna C Jansen, Grazia M S Mancini, Nataliya Di Donato
International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nature reviews. Neurology 16 (11) (2020)
Alka Malhotra, Alban Ziegler, Li Shu, Renee Perrier, Louise Amlie-Wolf, Elizabeth Wohler, Nara Lygia de Macena Sobreira, Estelle Colin, Adeline Vanderver, Omar Sherbini, Katrien Stouffs, Emmanuel Scalais, Alessandro Serretti, Magalie Barth, Benjamin Navet, Paul Rollier, Hui Xi, Hua Wang, Hainan Zhang, Denise L Perry, Alessandra Ferrarini, Roberto Colombo, Alexander Pepler, Adele Schneider, Kiyotaka Tomiwa, Nobuhiko Okamoto, Naomichi Matsumoto, Noriko Miyake, Ryan Taft, Xiao Mao, Dominique Bonneau
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features. Journal of medical genetics 58 (10) (2020)

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Publication Activity (10 Years)

Top Topics

Top Venues

Katrien Stouffs