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Papers共 185 篇Author StatisticsCo-AuthorSimilar Experts

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Heterozygous RAB3A Variants Cause Cerebellar Ataxia by a Partial Loss-of-function Mechanism
Holger Hengel, Shabab B Hannan,Selina Reich,Danique Beijer, Johanna Roller, Bernd K Gilsbach,Christian Johannes Gloeckner,Daniel Greene,Dagmar Timmann,Christel Depienne, Andrew Mumford,Mary O'Driscoll,Andrea H Nemeth, Julie Lundberg,Lance H Rodan,Ange-Line Bruel, Julian Delanne,Tine Deconinck,Jonathan Baets,Ziv Gan-Or, Guy Rouleau,Oksana Suchowersky, Mehrdad A Estiar, Stephen Reich,Camilo Toro,Stephan Züchner, Jamilé Hazan, Hjörvar Pétursson,Florian Harmuth, Claudia Bauer,Peter Bauer,Ernest Turro, David Lambright,Ludger Schöls,Matthis Synofzik
Brain a journal of neurology (2025)
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First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van Den Ende-Gupta and 22q11.2 Deletion Syndromes
Caroline Racine,Aurore Garde, Olivia Martz,Hana Safraou, Vinciane Eluard, Thierry Rousseau, Nathalie Marle, Fara T Harizay, Laurent Martin, Julien Maraval,Ange-Line Bruel, Christophe Philippe,Christel Thauvin-Robinet,Laurence Faivre
Molecular genetics & genomic medicineno. 4 (2025): e70096-e70096
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Bi-allelic MED16 Variants Cause a MEDopathy with Intellectual Disability, Motor Delay, and Craniofacial, Cardiac, and Limb Malformations
Charlotte Guillouet, Valeria Agostini,Geneviève Baujat, Dario Cocciadiferro,Tommaso Pippucci,Marion Lesieur-Sebellin, Mathieu Georget,Ulrich Schatz,Christine Fauth,Raymond J Louie, Curtis Rogers, Jessica M Davis,Vassiliki Konstantopoulou,Johannes A Mayr,Arjan Bouman,Martina Wilke,Grace E VanNoy,Eleina M England, Kristen L Park, Kathleen Brown,Margarita Saenz,Antonio Novelli,Maria Cristina Digilio, Gioia Mastromoro, Mauro Ciro Antonio Rongioletti,Gerardo Piacentini,Rauan Kaiyrzhanov, Sughra Guliyeva, Lala Hasanova,Deborah Shears, Ishita Bhatnagar,Karen Stals, Oliver Klaas,Judit Horvath, University of Washington Center for Mendelian Genomics, Patrice Bouvagnet,P Dane Witmer, Gretchen MacCarrick, Katarina Cisarova,Jean-Marc Good, Svetlana Gorokhova,Odile Boute, Thomas Smol,Ange-Line Bruel,Olivier Patat, Julia R Broadbent, Tiong Y Tan, Natalie B Tan,Stanislas Lyonnet, Tiffany Busa, Claudio Graziano,Jeanne Amiel,Christopher T Gordon
American journal of human geneticsno. 4 (2025): 829-845
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The Genetic and Phenotypic Spectrum of GABRB1-related Disorders
Charissa Millevert, Anthony Sze Hon Kan, Moritz Hanke, Mahmoud Koko, Maryam Erfanian Omidvar,Ulrike B S Hedrich,Thomas V Wuttke,Nina Barišić,Lieven Lagae,Ángel Aledo-Serrano, Eva-Maria Niehoff,Konrad Platzer,Pia Zacher,Tilman Polster, Robertino Dilena,Edoardo Monfrini,David Geneviève,Agathe Roubertie,Ange-Line Bruel, Frederic Tran Mau-Them, Majed Dasouki, Stacey Cohen,Ingo Helbig, Alicia G Harrison,Ellis Colin, Holly A Dubbs, Eric D Marsh,Sébastien Lebon,Na He, Heng Meng, Mary Chebib,Rikke S Møller,Carla Marini,Philip K Ahring,Holger Lerche,Sarah Weckhuysen
Brain a journal of neurology (2025)
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Author Statistics

#Papers: 185

#Citation: 2479

H-Index: 26

G-Index: 46

Sociability: 8

Diversity: 2

Activity: 83

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