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Papers共 113 篇Author StatisticsCo-AuthorSimilar Experts

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Mutations in the U2 Snrna Genernu2-2Pcause a Severe Neurodevelopmental Disorder with Prominent Epilepsy
Daniel Greene, Koenraad De Wispelaere, Jon Lees, Andrea Katrinecz, Sonia Pascoal, Emma Hales,Marta Codina-Sola,Irene Valenzuela, Eduardo F Tizzano, Giles Atton,Deirdre Donnelly,Nicola Foulds,Joanna Jarvis, Shane McKee, Michael O'Donoghue,Mohnish Suri,Pradeep Vasudevan, Kathy Stirrups, Natasha P Morgan,Kathleen Freson,Andrew D Mumford,Ernest Turro
crossref（2024）
Cited0Views0Bibtex
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Next-generation Phenotyping Integrated in a National Framework for Patients with Ultrarare Disorders Improves Genetic Diagnostics and Yields New Molecular Findings
Axel Schmidt,Magdalena Danyel,Kathrin Grundmann,Theresa Brunet,Hannah Klinkhammer,Tzung-Chien Hsieh,Hartmut Engels,Sophia Peters,Alexej Knaus,Shahida Moosa,Luisa Averdunk,Felix Boschann,Henrike Lisa Sczakiel,Sarina Schwartzmann,Martin Atta Mensah,Jean Tori Pantel,Manuel Holtgrewe, Annemarie Bösch,Claudia Weiß,Natalie Weinhold, Aude-Annick Suter,Corinna Stoltenburg,Julia Neugebauer, Tillmann Kallinich,Angela M Kaindl,Susanne Holzhauer,Christoph Bührer,Philip Bufler,Uwe Kornak,Claus-Eric Ott,Markus Schülke,Hoa Huu Phuc Nguyen,Sabine Hoffjan,Corinna Grasemann,Tobias Rothoeft,Folke Brinkmann,Nora Matar,Sugirthan Sivalingam,Claudia Perne,Elisabeth Mangold,Martina Kreiss,Kirsten Cremer,Regina C Betz,Martin Mücke,Lorenz Grigull,Thomas Klockgether,Isabel Spier,André Heimbach,Tim Bender,Fabian Brand,Christiane Stieber, Alexandra Marzena Morawiec,Pantelis Karakostas,Valentin S Schäfer,Sarah Bernsen,Patrick Weydt,Sergio Castro-Gomez,Ahmad Aziz,Marcus Grobe-Einsler,Okka Kimmich,Xenia Kobeleva,Demet Önder,Hellen Lesmann,Sheetal Kumar,Pawel Tacik, Meghna Ahuja Basin,Pietro Incardona,Min Ae Lee-Kirsch,Reinhard Berner,Catharina Schuetz,Julia Körholz,Tanita Kretschmer,Nataliya Di Donato,Evelin Schröck,André Heinen,Ulrike Reuner, Amalia-Mihaela Hanßke,Frank J Kaiser,Eva Manka,Martin Munteanu,Alma Kuechler,Kiewert Cordula,Raphael Hirtz,Elena Schlapakow,Christian Schlein,Jasmin Lisfeld,Christian Kubisch,Theresia Herget,Maja Hempel,Christina Weiler-Normann, Kurt Ullrich,Christoph Schramm,Cornelia Rudolph,Franziska Rillig, Maximilian Groffmann,Ania Muntau, Alexandra Tibelius,Eva M C Schwaibold,Christian P Schaaf,Michal Zawada,Lilian Kaufmann,Katrin Hinderhofer, Pamela M Okun,Urania Kotzaeridou,Georg F Hoffmann,Daniela Choukair,Markus Bettendorf,Malte Spielmann,Annekatrin Ripke,Martje Pauly,Alexander Münchau,Katja Lohmann,Irina Hüning,Britta Hanker,Tobias Bäumer,Rebecca Herzog,Yorck Hellenbroich,Dominik S Westphal,Tim Strom,Reka Kovacs,Korbinian M Riedhammer,Katharina Mayerhanser,Elisabeth Graf,Melanie Brugger,Julia Hoefele,Konrad Oexle,Nazanin Mirza-Schreiber,Riccardo Berutti,Ulrich Schatz,Martin Krenn,Christine Makowski,Heike Weigand,Sebastian Schröder,Meino Rohlfs,Katharina Vill,Fabian Hauck,Ingo Borggraefe,Wolfgang Müller-Felber,Ingo Kurth,Miriam Elbracht,Cordula Knopp,Matthias Begemann,Florian Kraft,Johannes R Lemke,Julia Hentschel,Konrad Platzer,Vincent Strehlow,Rami Abou Jamra,Martin Kehrer,German Demidov,Stefanie Beck-Wödl,Holm Graessner,Marc Sturm,Lena Zeltner,Ludger J Schöls,Janine Magg,Andrea Bevot,Christiane Kehrer,Nadja Kaiser,Ernest Turro,Denise Horn,Annette Grüters-Kieslich,Christoph Klein,Stefan Mundlos,Markus Nöthen,Olaf Riess,Thomas Meitinger,Heiko Krude,Peter M Krawitz,Tobias Haack,Nadja Ehmke,Matias Wagner
Nature Geneticsno. 8 (2024): 1644-1653
Cited0Views0WOSNATUREBibtex
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Mutations in the U2 Snrna Gene RNU2-2P Cause a Severe Neurodevelopmental Disorder with Prominent Epilepsy
Daniel Greene, Koenraad De Wispelaere, Jon Lees, Andrea Katrinecz, Sonia Pascoal, Emma Hales,Marta Codina-Solà,Irene Valenzuela, Eduardo F Tizzano, Giles Atton,Deirdre Donnelly,Nicola Foulds,Joanna Jarvis, Shane McKee, Michael O'Donoghue,Mohnish Suri,Pradeep Vasudevan, Kathy Stirrups, Natasha P Morgan,Kathleen Freson,Andrew D Mumford,Ernest Turro
medRxiv the preprint server for health sciences (2024)
Cited0Views0WOSBibtex
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A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate with Autosomal Recessive Polycystic Kidney Disease
Felix Richter, Kayleigh D. Rutherford, Anisha J. Cooke, Malorie Meshkati, Vanessa Eddy-Abrams,Daniel Greene, Jordana Kosowsky, Yeaji Park, Surabhi Aggarwal, Rebecca J. Burke,Weili Chang,Jillian Connors,Peter J. Giannone,Thomas Hays, Divya Khattar,Mark Polak,Liana Senaldi,Matthew Smith-Raska,Shanthy Sridhar,Laurie Steiner,Jonathan R. Swanson, Kate A. Tauber, Mafalda Barbosa,Katherine F. Guttmann,Ernest Turro
AMERICAN JOURNAL OF KIDNEY DISEASESno. 6 (2024): 829-833
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Author Statistics

#Papers: 113

#Citation: 5149

H-Index: 34

G-Index: 71

Sociability: 7

Diversity: 3

Activity: 18

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