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Research Interests

Papers共 278 篇Author StatisticsCo-AuthorSimilar Experts

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Mutations in EPG5 Are Associated with a Wide Spectrum of Neurodevelopmental and Neurodegenerative Disorders
Hormos Salimi Dafsari,Celine Deneubourg,Kritarth Singh,Reza Maroofian, Zita Suprenant,Ay Lin Kho,Neil J Ingham,Karen P Steel,Preethi Sheshadri, Franciska Baur, Lea Hentrich,Birgit Gerisch,Mina Zamani,Cesar Alves,Ata Siddiqui,Haidar S Dafsari,Mehri Salari,Anthony Lang,Michael Harris,Alice Abdelaleem,Saeid Sadeghian, Reza Azizalamiri,Hamid Galehdari,Gholamreza Shariati,Alireza Sedaghat,Jawaher Zeighami,Daniel Calame,Dana Marafi,Ruizhi Duan, Adrian Boehnke, Carrie Mohila,Dora Steel, Saurabh Chopra,Suvasini Sharma,Nicolai Kohlschmidt,Steffi Patzer,Afshin Saffari,Darius Ebrahimi-Fakhari, Buesra Eser Cavdartepe,Irene J. Chang,Erika Beckman, Renate Peters,Andrew Paul Fennell,Bernice Lo,Luisa Averdunk,Felix Distelmaier,Martina Baethmann,Frances Elmslie, Karit Joost,Sheela Nampoothiri,Dhanya Yesodharan, Hannah Mandel,Amy Kimball,Antonie D. Kline,Cyril Mignot,Boris Keren,Vincent Laugel,Katrin Ounap,Kalpana Devadathan, Frederique M.C. van Berkestijn, Arpana Silwal,Saskia Koene,Sumit Verma,Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz,Gehad ElGhazali, Lauren Mattas,Mohammad Miryounesi,Farzad Hashemi-Gorji,Shahryar Alavi,Nayereh Nouri, Mehrdad Noruzinia, Saeedeh Kavousi,Arveen Kamath,Sandeep Jayawant,Russell Saneto,Nourelhoda A. Haridy,Pinar Ozkan Kart,Ali Cansu,Claire Beneteau,Kyra E. Stuurman,Martina Wilke,Tahsin Stefan Barakat,Homa Tajsharghi,Annarita Scardamaglia,Sadeq Vallian,Semra Hiz,Ali Shoeibi,Reza Boostani,Narges Hashemi,Meisam Babaei,Norah Saleh Alsaleh, Julie Lander,Tania Attie-Bitach,Pauline Marzin,Dorota Wicher,Jessica I Gold,Mariana H G Monje,Dimitri Krainc,Niccolo Mencacci,Somayeh Bakhtiari,Michael C Kruer,Emanuela Argilli,Elliott Sherr,Yalda Jamshidi,Ehsan Ghayoor Karimiani,Yiu Wing Sunny Cheung,Ivan Karin,Wendy K. Chung,James R. Lupski,Manju A. Kurian,Joerg Doetsch,Juergen-Christoph von Kleist-Retzow, Thomas Klopstock,Matias Wagner,Calvin K. Yip,Andreas Roos,Carlo Dionisi-Vici,Mathias Gautel,Michael R Duchen, Adam Antebi,Henry Houlden,Manolis Fanto,Heinz Jungbluth
Neuropediatrics NEP 49th Annual Meeting of the Society for Neuropediatrics 2024 (2024)
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Gene Therapy for Neurotransmitter-Related Disorders
Wing Sum Chu,Joanne Ng,Simon N. Waddington,Manju A. Kurian
Journal of Inherited Metabolic Diseaseno. 1 (2024): 176-191
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Expanded Phenotypic Spectrum of Neurodevelopmental and Neurodegenerative Disorder Bryant-Li-Bhoj Syndrome with 38 Additional Individuals
Dana E. Layo-Carris,Emily E. Lubin,Annabel K. Sangree,Kelly J. Clark,Emily L. Durham,Elizabeth M. Gonzalez, Sarina Smith,Rajesh Angireddy, Xiao Min Wang, Erin Weiss,Roberto Mendoza-Londono,Lucie Dupuis,Nadirah Damseh,Danita Velasco,Irene Valenzuela,Marta Codina-Sola,Catherine Ziats, Jaclyn Have,Katie Clarkson,Dora Steel,Manju Kurian,Katy Barwick, Diana Carrasco,Aditi I. Dagli,M. J. M. Nowaczyk,Miroslava Hancarova,Sarka Bendova,Darina Prchalova,Zdenek Sedlacek, Alica Baxova,Catherine Bearce Nowak,Jessica Douglas,Wendy K. Chung,Nicola Longo,Konrad Platzer,Chiara Kloeckner,Luisa Averdunk,Dagmar Wieczorek,Ilona Krey,Christiane Zweier,Andre Reis,Tugce Balci,Marleen Simon,Hester Y. Kroes,Antje Wiesener,Georgia Vasileiou,Nikolaos M. Marinakis,Danai Veltra,Christalena Sofocleous,Konstantina Kosma,Joanne Traeger Synodinos, Konstantinos A. Voudris,Marie-Laure Vuillaume,Paul Gueguen,Nicolas Derive,Estelle Colin, Clarisse Battault,Billie Au,Martin Delatycki,Mathew Wallis,Lyndon Gallacher,Fatma Majdoub,Noor Smal,Sarah Weckhuysen,An-Sofie Schoonjans,R. Frank Kooy,Marije Meuwissen,Benjamin T. Cocanougher,Kathryn Taylor,Carolyn E. Pizoli,Marie T. McDonald, Philip James,Elizabeth R. Roeder,Rebecca Littlejohn,Nicholas A. Borja,Willa Thorson, Kristine King,Radka Stoeva,Manon Suerink,Esther Nibbeling, Stephanie Baskin, Gwenael L. E. Guyader,Julie Kaplan,Candace Muss,Deanna Alexis Carere,Elizabeth J. K. Bhoj,Laura M. Bryant
EUROPEAN JOURNAL OF HUMAN GENETICS (2024)
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Author Statistics

#Papers: 281

#Citation: 8140

H-Index: 50

G-Index: 84

Sociability: 8

Diversity: 3

Activity: 87

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