Chrome Extension
WeChat Mini Program
Use on ChatGLM
VIPCreated with Sketch.
Research Interests

Papers共 53 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
时间
引用量
主题
期刊级别
合作者
合作机构
Genomic Reanalysis of a Pan-European Rare-Disease Resource Yields New Diagnoses
Steven Laurie,Wouter Steyaert,Elke de Boer,Kiran Polavarapu,Nika Schuermans,Anna K. Sommer,German Demidov,Kornelia Ellwanger,Ida Paramonov,Coline Thomas,Stefan Aretz,Jonathan Baets,Elisa Benetti,Gemma Bullich,Patrick F. Chinnery,Jill Clayton-Smith,Enzo Cohen,Daniel Danis,Jean-Madeleine de Sainte Agathe,Anne-Sophie Denommé-Pichon,Jordi Diaz-Manera,Stephanie Efthymiou,Laurence Faivre,Marcos Fernandez-Callejo, Mallory Freeberg,José Garcia-Pelaez,Lena Guillot-Noel,Tobias B. Haack, Mike Hanna,Holger Hengel,Rita Horvath,Henry Houlden,Adam Jackson,Lennart Johansson,Mridul Johari,Erik-Jan Kamsteeg,Melanie Kellner,Tjitske Kleefstra,Didier Lacombe,Hanns Lochmüller,Estrella López-Martín,Alfons Macaya,Anna Marcé-Grau,Aleš Maver,Heba Morsy,Francesco Muntoni,Francesco Musacchia,Isabelle Nelson,Vincenzo Nigro,Catarina Olimpio,Carla Oliveira,Jaroslava Paulasová Schwabová,Martje G. Pauly,Borut Peterlin,Sophia Peters,Rolph Pfundt,Giulio Piluso,Davide Piscia,Manuel Posada,Selina Reich,Alessandra Renieri,Lukas Ryba,Karolis Šablauskas,Marco Savarese,Ludger Schöls,Leon Schütz,Verena Steinke-Lange,Giovanni Stevanin,Volker Straub,Marc Sturm,Morris A. Swertz,Marco Tartaglia,Iris B. A. W. te Paske,Rachel Thompson,Annalaura Torella,Christina Trainor,Bjarne Udd,Liedewei Van de Vondel,Bart van de Warrenburg,Jeroen van Reeuwijk,Jana Vandrovcova,Antonio Vitobello,Janet Vos,Emílie Vyhnálková,Robin Wijngaard,Carlo Wilke,Doreen William,Jishu Xu,Burcu Yaldiz, Luca Zalatnai,Birte Zurek,Anthony J. Brookes,Teresinha Evangelista,Christian Gilissen,Holm Graessner,Nicoline Hoogerbrugge,Stephan Ossowski,Olaf Riess,Rebecca Schüle,Matthis Synofzik,Alain Verloes,Leslie Matalonga,Han G. Brunner,Katja Lohmann,Richarda M. de Voer,Ana Töpf,Lisenka E.L.M. Vissers,Sergi Beltran,Alexander Hoischen
Nature Medicinepp.1-12, (2025)
Cited0Views0WOSNATUREBibtex
0
0
Better Statistical Reporting Does Not Lead to Statistical Rigour: Lessons from Two Decades of Pseudoreplication in Mouse-Model Studies of Neurological Disorders
Constantinos Eleftheriou, Sarah Giachetti, Raven Hickson, Laura Kamnioti-Dumont, Robert Templaar, Alina Aaltonen, Eleni Tsoukala, Nawon Kim, Lysandra Fryer-Petridis, Chloe Henley, Ceren Erdem, Emma Wilson, Beatriz Maio, Jingjing Ye, Jessica C. Pierce, Kath Mazur, Lucia Landa-Navarro, Nina G. Petrović, Sarah Bendova, Hanan Woods, Manuela Rizzi, Vanesa Salazar-Sanchez, Natasha Anstey, Antonios Asiminas, Shinjini Basu,Sam A. Booker, Anjanette Harris, Sam Heyes,Adam Jackson, Alex Crocker-Buque, Aoife C. McMahon,Sally M. Till, Lasani S. Wijetunge, David JA Wyllie, Catherine M. Abbott, Timothy O’Leary, Peter C. Kind
Molecular Autismno. 1 (2025): 1-10
Cited0Views0WOSBibtex
0
0
Analysis of R-loop Forming Regions Identifies RNU2-2 and RNU5B-1 As Neurodevelopmental Disorder Genes
Adam Jackson, Nishi Thaker, Alexander Blakes, Gillian Rice, Sam Griffiths-Jones,Meena Balasubramanian, Jennifer Campbell,Nora Shannon,Jungmin Choi, Juhyeon Hong,David Hunt, Anna de Burca,Soo Yeon Kim, Taekeun Kim,Seungbok Lee, Melody Redman, Rocio Rius,Cas Simons,Tiong Yang Tan, Jamie Ellingford, Raymond T O'Keefe,Jong Hee Chae,Siddharth Banka
Nature geneticsno. 6 (2025): 1362-1366
Cited0Views0WOSBibtex
0
0
Key Roles of C2/GAP Domains in SYNGAP1-related Pathophysiology
Danai Katsanevaki,Sally M. Till,Ingrid Buller-Peralta,Mohammad Sarfaraz Nawaz,Susana R. Louros, Vijayakumar Kapgal, Shashank Tiwari, Darren Walsh,Natasha J. Anstey, Nina G. Petrovic, Alison Cormack, Vanesa Salazar-Sanchez, Anjanette Harris, William Farnworth-Rowson, Andrew Sutherland,Thomas C. Watson, Siyan Dimitrov,Adam D. Jackson,Daisy Arkell, Suryanarayan Biswal,Kosala N. Dissanayake, Lindsay A. M. Mizen,Nikolas Perentos,Matt W. Jones,Michael A. Cousin,Sam A. Booker,Emily K. Osterweil,Sumantra Chattarji,David J. A. Wyllie, Alfredo Gonzalez-Sulser,Oliver Hardt,Emma R. Wood,Peter C. Kind
Cell reportsno. 9 (2024): 114733-114733
Cited1Views0WOSBibtex
1
0
04190 Adrenal Insufficiency Associated with Mutations in Haem Biosynthesis Genes
Ahmed Al-Salihi,Chris J Smith,Adam Jackson,Andreas Janecke, Elisabeth Steichen,Denise Darby,Liezel Griffin,Siddharth Banka,Solaf Elsayed,Neila Talbi,Laurent Gouya, Brigitte Delemer,Li F Chan,Louise A Metherell
Session 3 – Heme metabolism and cellular energy inter-organ heme signaling and import/export systems (September 23rd, 2024) (2024)
Cited0Views0Bibtex
0
0
Load More
Author Statistics

#Papers: 53

#Citation: 649

H-Index: 13

G-Index: 25

Sociability: 7

Diversity: 2

Activity: 36

  • 合作者
  • 学生
  • 导师
No result temporarily, you can search similar Scholar with the same research interest
Data Disclaimer
The page data are from open Internet sources, cooperative publishers and automatic analysis results through AI technology. We do not make any commitments and guarantees for the validity, accuracy, correctness, reliability, completeness and timeliness of the page data. If you have any questions, please contact us by email: report@aminer.cn