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Brain : a Journal of Neurology|March 15, 2024
Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathyCaroline G Bergner, Marjolein Breur, M Clara Soto-Bernardini, et al.Journal of Molecular Medicine (Berlin, Germany)|September 18, 2021
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotypeLuisa Averdunk, Heinrich Sticht, Harald Surowy, et al.Scientific Reports|September 24, 2017
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short statureNadine N Hauer, Heinrich Sticht, Sangamitra Boppudi, et al.Human Molecular Genetics|January 2, 2014
Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neuronsSteven Havlicek, Zacharias Kohl, Himanshu K Mishra, et al.Nature Communications|July 5, 2017
AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual abilityAline Brechet, Rebecca Buchert, Jochen Schwenk, et al.American Journal of Human Genetics|November 20, 2025
Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxiaBrandon Bresack, Laura Renée Kohl, Alexandra Afenjar, et al.Human Genetics|March 12, 2014
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutationsLina Basel-Vanagaite, Rüstem Yilmaz, Sha Tang, et al.Inflammatory Bowel Diseases|January 4, 2021
Matricellular Protein SPARCL1 Regulates Blood Vessel Integrity and Antagonizes Inflammatory Bowel DiseaseDaniela Regensburger, Clara Tenkerian, Victoria Pürzer, et al.American Journal of Human Genetics|September 22, 2009
Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucomaFrancesca Pasutto, Tomoya Matsumoto, Christian Y Mardin, et al.Brain : a Journal of Neurology|September 11, 2019
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizuresSusanne Horn, Margaret Au, Lina Basel-Salmon, et al.Pageof 31