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Research Interests

Papers共 337 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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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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A Novel UPF1 Variant Associated with a Rare UPF1-Related Neurodevelopmental Disorder
Zeynep Tümer, Jonas Dalsberg,Gitte Rønde, Jesper Kiehn Sørensen,Elsebet Østergaard
Clinical genetics (2025)
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Biallelic Loss-of-function Variants in ZNF142 Are Associated with a Robust DNA Methylation Signature Affecting a Limited Number of Genomic Loci
Mathis Hildonen,Andrea Ciolfi, Marco Ferilli, Camilla Cappelletti, Chadi Al Alam,David J Amor,Tahsin Stefan Barakat,Valérie Benoit, Ohad Shmuel Birk,Bert Callewaert, Ana Cazurro-Gutiérrez, Matthias De Wachter, Martine Doco-Fenzy,Paulino Gómez-Puertas, Trine Bjørg Hammer,Rami Abou Jamra,Rauan Kaiyrzhanov, Shinichi Kameyama,Boris Keren,Christina Kresge, Ilona Krey,Damien Lederer, Iñigo Marcos-Alcalde,Reza Maroofian,Naomichi Matsumoto,Takeshi Mizuguchi, Lip-Hen Moey,Angela Morgan, Francina Munell,Konrad Platzer,Beth A Pletcher, David Ros-Pardo, Lynne Rumping, Katalin Szakszon,Kristof Van Schil, Edgard Verdura,Julie Vogt,Evangeline Wassmer,Mina Zamani,Zeynep Tümer,Marco Tartaglia
European journal of human genetics EJHG (2025)
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Author Statistics

#Papers: 337

#Citation: 9857

H-Index: 48

G-Index: 88

Sociability: 8

Diversity: 3

Activity: 35

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