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Papers共 109 篇Author StatisticsCo-AuthorSimilar Experts

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Bi-allelic Pathogenic Variants in TRMT1 Disrupt Trna Modification and Induce a Neurodevelopmental Disorder
Stephanie Efthymiou, Cailyn P Leo, Chenghong Deng,Sheng-Jia Lin,Reza Maroofian, Renee Lin, Irem Karagoz, Kejia Zhang,Rauan Kaiyrzhanov, Annarita Scardamaglia, Daniel Owrang, Valentina Turchetti, Friederike Jahnke, Kevin Huang,Cassidy Petree, Anna V Derrick, Mark I Rees,Javeria Raza Alvi,Tipu Sultan,Chumei Li, Marie-Line Jacquemont, Frederic Tran-Mau-Them, Maria Valenzuela-Palafoll, Rich Sidlow,Grace Yoon, Michelle M Morrow, Deanna Alexis Carere, Mary O'Connor, Julie Fleischer, Erica H Gerkes,Chanika Phornphutkul,Bertrand Isidor, Clotilde Rivier-Ringenbach, Christophe Philippe,Semra Hiz Kurul,Didem Soydemir,Bulent Kara,Deniz Sunnetci-Akkoyunlu, Viktoria Bothe,Konrad Platzer,Dagmar Wieczorek, Margarete Koch-Hogrebe, Nils Rahner,Ann-Charlotte Thuresson,Hans Matsson,Carina Frykholm, Sevcan Tuğ Bozdoğan,Atil Bisgin,Nicolas Chatron,Gaetan Lesca, Sara Cabet,Zeynep Tümer, Tina D Hjortshøj,Gitte Rønde,Thorsten Marquardt,Janine Reunert,Erum Afzal,Mina Zamani, Reza Azizimalamiri,Hamid Galehdari, Pardis Nourbakhsh, Niloofar Chamanrou, Seo-Kyung Chung,Mohnish Suri,Paul J Benke,Maha S Zaki,Joseph G Gleeson,Daniel G Calame,Davut Pehlivan, Halil I Yilmaz,Alper Gezdirici, Aboulfazl Rad, Iman Sabri Abumansour,Gabriela Oprea, Muhammed Burak Bereketoğlu, Guillaume Banneau,Sophie Julia,Jawaher Zeighami, Saeed Ashoori,Gholamreza Shariati,Alireza Sedaghat, Alihossein Sabri,Mohammad Hamid, Sahere Parvas, Tajul Arifin Tajudin,Uzma Abdullah,Shahid Mahmood Baig, Wendy K Chung, Olga O Glazunova,Sigaudy Sabine,Huma Arshad Cheema,Giovanni Zifarelli,Peter Bauer, Jai Sidpra,Kshitij Mankad,Barbara Vona, Andrew E Fry,Gaurav K Varshney,Henry Houlden,Dragony Fu
American journal of human genetics（2025）
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Saturation Genome Editing of RNU4-2 Reveals Distinct Dominant and Recessive Neurodevelopmental Disorders
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji,Elsa Leitão, Ruebena Dawes, Yuyang Chen,Alexander Jm Blakes,Cas Simons, Rocio Rius, Javeria R Alvi,Florence Amblard,Christina Austin-Tse, Sarah Baer, Elsa V Balton,Pierre Blanc,Daniel G Calame,Charles Coutton, Chloe A Cunningham, Nitsuh Dargie,Katrina M Dipple, Haowei Du,Salima El Chehadeh, Ian Glass,Joseph G Gleeson, Olivier Grunewald,Paul Gueguen, Radu Harbuz, Marie-Line Jacquemont,Richard J Leventer, Pierre Marijon, Olfa Messaoud,Tipu Sultan, Christel Thauvin,Catherine Vincent-Delorme,Elif Yilmaz Gulec,Julien Thevenon, Rodrigo Mendez, Daniel G MacArthur,Christel Depienne,Caroline Nava,Nicola Whiffin, Gregory M Findlay
medRxiv the preprint server for health sciences (2025)
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Genetic Autoimmunity and Interferonopathies in Pediatric Patients with Neuromyelitis Optica Spectrum Disorder
J. M. Levine, K. S. Fisher, T. E. Lotze,J. Lupski,D. Calame
ANNALS OF NEUROLOGY (2025): S135-S135
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Bi-allelic UGGT1 Variants Cause a Congenital Disorder of Glycosylation
Zain Dardas, Laura Harrold,Daniel G Calame,Claire G Salter,Takashi Kikuma, Kevin P Guay, Bobby G Ng,Kanae Sano, Ahmad K Saad, Haowei Du,Riccardo Sangermano, Sohil G Patankar,Shalini N Jhangiani,Semra Gürsoy,Mohamed S Abdel-Hamid, Mahmoud K H Ahmed,Reza Maroofian,Rauan Kaiyrzhanov,Kamran Salayev, Wendy D Jones, Ana Pérez Caballero, Lucy McGavin, Michael Spiller,Miranda Durkie, Nick Wood, Lauren O'Grady, Paula Goldenberg,Ann M Neumeyer,Amber Begtrup, Sherif F Abdel-Ghafar,Maha S Zaki,Hilde Van Esch,Jennifer E Posey, Olivia K Wenger, Ethan M Scott,Kinga M Bujakowska,Richard A Gibbs,Davut Pehlivan,Dana Marafi,Joseph S Leslie, Nishanka Ubeyratna,Jacob Day,Martina Owens, Jessica Settle, Soher Balkhy, Abdullah Tamim,Lama Alabdi, Fowzan S Alkuraya,Yoichi Takeda, Hudson H Freeze,Daniel N Hebert,James R Lupski,Andrew H Crosby,Emma L Baple
American journal of human geneticsno. 5 (2025): 1139-1157
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Precision Medicine in Neurology
Daniel G. Calame, Jennifer E. Posey
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Diseasepp.29-43, (2025)
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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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Author Statistics

#Papers: 109

#Citation: 946

H-Index: 14

G-Index: 30

Sociability: 7

Diversity: 2

Activity: 80

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