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BRAT1–related Disorders: Phenotypic Spectrum and Phenotype-Genotype Correlations from 97 Patients

Camille Engel,Stéphanie Valence,Geoffroy Delplancq,Reza Maroofian,Andrea Accogli,Emanuele Agolini,Fowzan S. Alkuraya,Valentina Baglioni,Irene Bagnasco,Mathilde Becmeur-Lefebvre,Enrico Bertini,Ingo Borggraefe,Elise Brischoux-Boucher,Ange-Line Bruel,Alfredo Brusco,Dalal K. Bubshait,Christelle Cabrol,Maria Roberta Cilio,Marie-Coralie Cornet,Christine Coubes,Olivier Danhaive,Valérie Delague,Anne-Sophie Denommé-Pichon,Marilena Carmela Di Giacomo,Martine Doco-Fenzy,Hartmut Engels,Kirsten Cremer,Marion Gérard,Joseph G. Gleeson,Delphine Heron,Joanna Goffeney,Anne Guimier,Frederike L. Harms,Henry Houlden,Michele Iacomino,Rauan Kaiyrzhanov,Benjamin Kamien,Ehsan Ghayoor Karimiani,Dror Kraus,Paul Kuentz,Kerstin Kutsche,Damien Lederer,Lauren Massingham,Cyril Mignot,Déborah Morris-Rosendahl,Lakshmi Nagarajan,Sylvie Odent,Clothilde Ormières, Jennifer Neil Partlow,Laurent Pasquier,Lynette Penney,Christophe Philippe,Gianluca Piccolo,Cathryn Poulton,Audrey Putoux,Marlène Rio,Christelle Rougeot,Vincenzo Salpietro,Ingrid Scheffer,Amy Schneider,Siddharth Srivastava,Rachel Straussberg,Pasquale Striano,Enza Maria Valente,Perrine Venot,Laurent Villard,Antonio Vitobello,Johanna Wagner,Matias Wagner,Maha S. Zaki,Federizo Zara,Gaetan Lesca,Vahid Reza Yassaee,Mohammad Miryounesi,Farzad Hashemi-Gorji, Mehran Beiraghi,Farah Ashrafzadeh,Hamid Galehdari,Christopher Walsh,Antonio Novelli,Moritz Tacke,Dinara Sadykova,Yerdan Maidyrov, Kairgali Koneev,Chingiz Shashkin,Valeria Capra,Mina Zamani,Lionel Van Maldergem,Lydie Burglen,Juliette Piard

EUROPEAN JOURNAL OF HUMAN GENETICS（2023）

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关键词
Disease genetics,Genetic testing,Paediatric neurological disorders,Biomedicine,general,Human Genetics,Bioinformatics,Gene Expression,Cytogenetics
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