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Adaptor protein 2 sigma subunit (AP2S1) variants associated with neurodevelopmental disorders
Mark Stevenson,Asha L Bayliss,Victoria J Stokes,Katherine A English,Kreepa G Kooblall,Roman Fischer, Raphael Heilig,Iolanda Vendrell, Maria E W A Albers, Meghan Bartos, Amber Begtrup,Alexia Bourgois,Rebecca Buchert, David J Carey, Deanna A Carere,Amanda Carnevale, Kristl G Claeys, Benjamin Cogne,Gregory Costain, Nicole de Leeuw,Anne-Sophie Denommé-Pichon,Elizabeth J Donner,Eftychia Drogouti,David A Dyment,Balram Gangaram,Tobias B Haack, Jeremy S Haley,Solveig Heide, Ralf A Hussain,Bertrand Isidor, Louise Izatt,Adeline Jacquinet, Jane Juusola, Juliette J Kahle,Boris Keren, Eric W Klee,Evgenia Kokosali,Brendan C Lanpher,Erica L Macke, Elysa J Marco, Kirsty McWalter, Bryce A Mendelsohn, Aubrey Milunshy,Matthew Osmond, Amelie Piton,Angelika Riess, Valentin Ruault,Patrick Rump,Sarah Schuhmann, Amelle L Shillington, Diane T Smelser,Lot Snijders Blok,Frederic Tran Mau-Them,Christos Tsakalidis, Abigail Turnwald,Koen L I Van Gassen,Kristof Van Schil,Georgia Vasileiou,Marissa Vawter-Lee,Marjolaine Willems,Marjolein H Willemsen,Lily C Wong-Kisiel, Antje Wonneberger,Ioannis Zaganas, Genomics England Research Consortium,Fadil M Hannan,Kate E Lines,Rajesh V Thakker
medrxiv（2024）
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Unveiling the Crucial Neuronal Role of the Proteasomal ATPase Subunit Gene PSMC5 in Neurodevelopmental Proteasomopathies
Sébastien Küry,Janelle E. Stanton,Geeske van Woerden,Tzung-Chien Hsieh,Cory Rosenfelt,Marie Pier Scott-Boyer,Victoria Most,Tianyun Wang,Jonas Johannes Papendorf,Charlotte de Konink,Wallid Deb,Virginie Vignard,Maja Studencka-Turski,Thomas Besnard, Anna Marta Hajdukowicz, Franziska Thiel,Sophie Möller,Laëtitia Florenceau,Silvestre Cuinat, Sylvain Marsac,Ingrid Wentzensen, Annabelle Tuttle,Cara Forster,Johanna Striesow,Richard Golnik,Damara Ortiz, Laura Jenkins,Jill A. Rosenfeld,Alban Ziegler,Clara Houdayer,Dominique Bonneau,Erin Torti,Amber Begtrup,Kristin G. Monaghan,Sureni V. Mullegama, C.M.L. (Nienke) Volker-Touw,Koen L. I. van Gassen,Renske Oegema, Mirjam de Pagter,Katharina Steindl,Anita Rauch,Ivan Ivanovski,Kimberly McDonald,Emily Boothe,Andrew Dauber,Janice Baker, Noelle Andrea V Fabie,Raphael A. Bernier,Tychele N. Turner,Siddharth Srivastava,Kira A. Dies,Lindsay Swanson,Carrie Costin,Rebekah K. Jobling,John Pappas,Rachel Rabin,Dmitriy Niyazov,Anne Chun-Hui Tsai, Karen Kovak,David B. Beck, MCV Malicdan,David R. Adams,Lynne Wolfe,Rebecca D. Ganetzky,Colleen Muraresku,Davit Babikyan,Zdeněk Sedláček,Miroslava Hančárová,Andrew T. Timberlake, Hind Al Saif, Berkley Nestler,Kayla King, MJ Hajianpour,Gregory Costain, D’Arcy Prendergast,Chumei Li,David Geneviève,Antonio Vitobello,Arthur Sorlin,Christophe Philippe,Tamar Harel,Ori Toker,Ataf Sabir,Derek Lim,Mark Hamilton,Lisa Bryson,Elaine Cleary,Sacha Weber,Trevor L. Hoffman,Anna Maria Cueto-González,Eduardo Fidel Tizzano,David Gómez-Andrés,Marta Codina-Solà,Athina Ververi,Efterpi Pavlidou,Alexandros Lambropoulos,Kyriakos Garganis,Marlène Rio,Jonathan Levy,Sarah Jurgensmeyer, Anne M. McRae, Mathieu Kent Lessard,Maria Daniela D’Agostino,Isabelle De Bie,Meret Wegler,Rami Abou Jamra,Susanne B. Kamphausen,Viktoria Bothe,Larissa M. Busch,Uwe Völker,Elke Hammer,Kristian Wende,Benjamin Cogné,Bertrand Isidor, Jens Meiler, Amélie Bosc-Rosati,Julien Marcoux,Marie-Pierre Bousquet,Jeremie Poschmann,Frédéric Laumonnier,Peter W. Hildebrand,Evan E. Eichler,Kirsty McWalter,Peter M. Krawitz,Arnaud Droit,Ype Elgersma,Andreas M. Grabrucker,Francois V. Bolduc,Stéphane Bézieau,Frédéric Ebstein,Elke Krüger
medrxiv（2024）
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De Novo Variants in SP9 Cause a Novel Form of Interneuronopathy Characterized by Intellectual Disability, Autism Spectrum Disorder, and Epilepsy with Variable Expressivity
Marine Tessarech,Gaelle Friocourt,Florent Marguet,Maryline Lecointre,Morgane Le Mao, Rodrigo Munoz Diaz,Cyril Mignot,Boris Keren,Benedicte Heron,Charlotte De Bie,Koen Van Gassen,Didier Loisel,Benoit Delorme,Steffen Syrbe,Annick Klabunde-Cherwon,Rami Abou Jamra,Meret Wegler,Bert Callewaert,Annelies Dheedene, Merzouka Zidane-Marinnes, Agnes Guichet, Celine Bris, Patrick Van Bogaert, Florence Biquard, Guy Lenaers, Pascale Marcorelles, Claude Ferec, Bruno Gonzalez, Vincent Procaccio,Antonio Vitobello, Dominique Bonneau, Annie Laquerriere, Salim Khiati, Estelle Colin
Genetics in Medicineno. 5 (2024)
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Etiological Involvement of KCND1 Variants in an X-linked Neurodevelopmental Disorder with Variable Expressivity
Tassja Kalm,Claudia Schob, Hanna Voeller,Thatjana Gardeitchik,Christian Gilissen,Rolph Pfundt,Chiara Kloeckner,Konrad Platzer,Annick Klabunde-Cherwon,Markus Ries,Steffen Syrbe,Francesca Beccaria,Francesca Madia,Marcello Scala,Federico Zara,Floris Hofstede,Marleen E. H. Simon,Richard H. van Jaarsveld,Renske Oegema,Koen L. I. van Gassen, Sjoerd J. B. Holwerda, Tahsin Stefan Barakat, Arjan Bouman, Marjon van Slegtenhorst, Sara Alvarez, Alberto Fernandez-Jaen, Javier Porta, Andrea Accogli, Margherita Maria Mancardi, Pasquale Striano, Michele Iacomino, Jong-Hee Chae, SeSong Jang, Soo Y. Kim, David Chitayat, Saadet Mercimek-Andrews, Christel Depienne, Antje Kampmeier, Alma Kuechler, Harald Surowy, Enrico Silvio Bertini, Francesca Clementina Radio, Cecilia Mancini, Simone Pizzi, Marco Tartaglia, Lucas Gauthier, David Genevieve, Mylene Tharreau, Noy Azoulay, Gal Zaks-Hoffer, Nesia K. Gilad, Naama Orenstein, Genevieve Bernard, Isabelle Thiffault, Jonas Denecke, Theresia Herget, Fanny Kortum, Christian Kubisch,Robert Bahring,Stefan Kindler
American journal of human genetics (2024)
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LIMK1 Variants Are Associated with Divergent Endocrinological Phenotypes Aligning with Divergently Altered Exocytosis Dynamics
Irena Muffels, Theodore Carter,Holger Rehmann, Bas Vastert, Stuart Annemarie Verrijn, Andreas Blank, Aurore Garde, Der Zwaag Bert Van, Lange Iris De, Jaques Giltay,Gassen Koen Van,Klaas Koop, Cedric Asensio,Hasselt Peter Van
Endocrine Abstracts (2024)
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作者统计

#Papers: 135

#Citation: 3988

H-Index: 39

G-Index: 59

Sociability: 8

Diversity: 3

Activity: 74

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