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Journal of Medical Genetics|October 13, 2023
Intellectual disability syndrome associated with a homozygous founder variant in <i>SGSM3</i> in Ashkenazi JewsRivka Birnbaum, Shlomit Ezer, Nava Shaul Lotan, et al.European Journal of Human Genetics : EJHG|May 15, 2025
Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndromeShiyu Luo, Valérie Gailus-Durner, Bobbi McGivern, et al.European Journal of Human Genetics : EJHG|January 12, 2018
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signalingReza Asadollahi, Justin E Strauss, Martin Zenker, et al.Molecular Psychiatry|February 28, 2024
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapsesDévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 29, 2020
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapyFrancisco Del Caño-Ochoa, Bobby G Ng, Malak Abedalthagafi, et al.Journal of Neuromuscular Diseases|February 13, 2016
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular TransmissionAmina Chaouch, Vito Porcelli, Daniel Cox, et al.Nature Communications|July 4, 2014
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasiaVeronika Boczonadi, Juliane S Müller, Angela Pyle, et al.American Journal of Human Genetics|April 5, 2016
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and HypotoniaElizabeth J Bhoj, Dong Li, Margaret Harr, et al.Brain : a Journal of Neurology|May 16, 2024
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial featuresTamar Harel, Camille Spicher, Elisabeth Scheer, et al.Nature Genetics|December 18, 2019
Loss of ADAMTS19 causes progressive non-syndromic heart valve diseaseFlorian Wünnemann, Asaf Ta-Shma, Christoph Preuss, et al.Pageof 22