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Nature Communications|February 19, 2021
POLRMT mutations impair mitochondrial transcription causing neurological diseaseMonika Oláhová, Bradley Peter, Zsolt Szilagyi, et al.
American Journal of Medical Genetics. Part A|November 16, 2023
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacyElizabeth I Pierpont, Anton M Bennett, Lisa Schoyer, et al.
American Journal of Medical Genetics. Part A|December 12, 2019
The sixth international RASopathies symposium: Precision medicine-From promise to practiceKaren W Gripp, Lisa Schill, Lisa Schoyer, et al.
American Journal of Human Genetics|January 25, 2024
Role of CAMK2D in neurodevelopment and associated conditionsPomme M F Rigter, Charlotte de Konink, Matthew J Dunn, et al.
Brain : a Journal of Neurology|June 26, 2026
RBMX functional retrocopy safeguards brain development in a species-dependent contextPierre Tilliole, Carolin Mattausch, Peggy Tilly, et al.
American Journal of Human Genetics|July 30, 2020
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical SpectrumMarialetizia Motta, Luca Pannone, Francesca Pantaleoni, et al.
American Journal of Human Genetics|December 7, 2015
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological ManifestationsJason A O'Rawe, Yiyang Wu, Max J Dörfel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2023
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorderAndrea Accogli, Sheng-Jia Lin, Mariasavina Severino, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2022
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalitiesElisa Cali, Mohnish Suri, Marcello Scala, et al.
Science Advances|October 4, 2019
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmissionHui Guo, Ying Li, Lu Shen, et al.
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