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Novel Genetic Cause for Neurodevelopmental Defects
Laura V. Vandervore
Rachel Schot
Chiara Milanese, PHD
Daphne J. Smits
Esmee Kasteleijn
Andrew E. Fry
Daniela T. Pilz
Stefanie Brock
Esra Börklü-Yücel
Marco Post
Nadia Bahi-Buisson, MD PhD
María José Sánchez-Soler
Marjon van Slegtenhorst
Boris Keren, PhD, MD
Alexandra Afenjar
Stephanie A. Coury
Wen-Hann Tan, MD
Renske Oegema, MD
Linda S. de Vries
Katherine A. Fawcett
Peter G J Nikkels, Dr.
Aida M. Bertoli-Avella, MD
Amal Al Hashem
Abdulmalik A. Alwabel
Kalthoum Tlili-Graiess
Stephanie Efthymiou, BSc MSc PhD
Faisal Zafar
Nuzhat Rana
Farah Bibi
Henry Houlden, MD PhD
Reza Maroofian, PhD
Richard Person
Amy Crunk
Juliann M. Savatt
Lisbeth Turner
Mohammad Doosti, PhD
Ehsan Ghayoor Karimiani, MD MRes PhD
Nebal Waill Saadi
Javad Akhondian
Maarten H. Lequin
Hülya Kayserili
Peter J. Van der Spek, Prof. Dr. Ing.
Anna C. Jansen
Johan M. Kros
Robert Verdijk, MD PhD
Nataša Jovanov-Milošević, PhD Associate Professor
Maarten Fornerod
Pier Giorgio Mastroberardino
Grazia M. S. Mancini
November 12, 2019
Many proteins are crucial for proper brain development. By showing that certain neurodevelopmental defects are associated with mutations in TMX2, this study adds an enzyme of the redox signaling pathway to the list of vital proteins. These findings, which were partially based on data generated at CENTOGENE, were published in the American Journal of Human Genetics.