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Research Interests

Papers共 146 篇Author StatisticsCo-AuthorSimilar Experts

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Combined Genomics and Proteomics Unveils Elusive Variants and Vast Aetiologic Heterogeneity in Dystonia
Michael Zech,Ivana Dzinovic,Matej Skorvanek,Philip Harrer,Jan Necpal,Robert Kopajtich,Volker Kittke,Erik Tilch, Chen Zhao,Eugenia Tsoma, Ugo Sorrentino,Elisabetta Indelicato, Antonia Stehr, Alice Saparov,Lucia Abela,Miriam Adamovicova,Alexandra Afenjar,Birgit Assmann,Janette Baloghova, Matthias Baumann,Riccardo Berutti, Zuzana Brezna,Melanie Brugger,Theresa Brunet,Benjamin Cogne,Isabel Colangelo,Erin Conboy, Felix Distelmaier,Matthias Eckenweiler,Barbara Garavaglia,Arie Geerlof,Elisabeth Graf,Annette Hackenberg, Denisa Harvanova,Bernhard Haslinger,Petra Havrankova,Georg F Hoffmann,Wibke G Janzarik,Boris Keren,Miriam Kolnikova,Konstantinos Kolokotronis, Zuzana Kosutzka,Anne Koy,Martin Krenn,Magdalena Krygier, Katarina Kusikova, Oliver Maier,Thomas Meitinger,Christian Mertes,Ivan Milenkovic,Edoardo Monfrini, Andre Santos Dias Mourao,Thomas Musacchio,Mathilde Nizon,Miriam Ostrozovicova, Martin Pavlov,Iva Prihodova,Irena Rektorova,Luigi M Romito, Barbora Rybanska,Ariane Sadr-Nabavi, Susanne Schwenger,Ali Shoeibi,Alexandra Sitzberger,Dmitrii Smirnov,Jana Svantnerova, Raushana Tautanova,Sandra P Toelle,Olga Ulmanova,Francesco Vetrini,Katharina Vill, Matias Wagner,David Weise,Giovanna Zorzi,Alessio Di Fonzo,Konrad Oexle, Steffen Berweck,Volker Mall,Sylvia Boesch,Barbara Schormair,Holger Prokisch,Robert Jech,Juliane Winkelmann
Brain a journal of neurology (2025)
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Pathogenic Variants in KMT2C Result in a Neurodevelopmental Disorder Distinct from Kleefstra and Kabuki Syndromes
Dmitrijs Rots,Sanaa Choufani,Victor Faundes,Alexander J. M. Dingemans,Shelagh Joss,Nicola Foulds,Elizabeth A. Jones, Sarah Stewart,Pradeep Vasudevan,Tabib Dabir,Soo-Mi Park,Rosalyn Jewell,Natasha Brown,Lynn Pais,Sebastien Jacquemont,Khadije Jizi,Conny M. A. van Ravenswaaij-Arts,Hester Y. Kroes,Constance T. R. M. Stumpel,Charlotte W. Ockeloen,Illja J. Diets,Mathilde Nizon,Marie Vincent,Benjamin Cogne,Thomas Besnard, Marios Kambouris,Emily Anderson,Elaine H. Zackai,Carey McDougall,Sarah Donoghue,Anne O'Donnell-Luria,Zaheer Valivullah,Melanie O'Leary,Siddharth Srivastava,Heather Byers,Nancy Leslie,Sarah Mazzola,George E. Tiller, Moin Vera,Joseph J. Shen, Richard Boles,Vani Jain,Elise Brischoux-Boucher,Esther Kinning,Brittany N. Simpson,Jacques C. Giltay,Jacqueline Harris,Boris Keren,Anne Guimier, Pierre Marijon,Bert B. A. de Vries,Constance S. Motter,Bryce A. Mendelsohn, Samantha Coffino,Erica H. Gerkes,Alexandra Afenjar,Paola Visconti,Elena Bacchelli,Elena Maestrini,Andree Delahaye-Duriez,Catherine Gooch,Yvonne Hendriks, Hieab Adams,Christel Thauvin-Robinet,Sarah Josephi-Taylor,Marta Bertoli,Michael J. Parker,Julie W. Rutten,Oana Caluseriu,Hilary J. Vernon, Jonah Kaziyev,Jia Zhu,Jessica Kremen,Zoe Frazier, Hailey Osika,David Breault,Sreelata Nair, Suzanne M. E. Lewis,Fabiola Ceroni,Marta Viggiano,Annio Posar,Helen Brittain,Traficante Giovanna,Gori Giulia,Lina Quteineh, Russia Ha-Vinh Leuchter,Evelien Zonneveld-Huijssoon,Cecilia Mellado,Isabelle Marey, Alicia Coudert, Mariana Ines Aracena Alvarez, Milou G. P. Kennis,Arianne Bouman,Maian Roifman, Maria Inmaculada Amoros Rodriguez,Juan Dario Ortigoza-Escobar,Vivian Vernimmen,Margje Sinnema,Rolph Pfundt,Han G. Brunner,Lisenka E. L. M. Vissers,Tjitske Kleefstra,Rosanna Weksberg,Siddharth Banka
AMERICAN JOURNAL OF HUMAN GENETICSno. 8 (2024): 1626-1642
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Author Statistics

#Papers: 146

#Citation: 2318

H-Index: 29

G-Index: 43

Sociability: 8

Diversity: 3

Activity: 60

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