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Journal of Child Neurology|September 15, 2020
Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic MovementsImane Abdelmoumen, Sandra Jimenez, Ignacio Valencia, et al.Nature Communications|October 2, 2020
Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular diseasePaige B Martin, Yu Kigoshi-Tansho, Roger B Sher, et al.Nature Communications|September 16, 2020
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular diseasePaige B Martin, Yu Kigoshi-Tansho, Roger B Sher, et al.American Journal of Human Genetics|June 20, 2020
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental DelayLisenka E L M Vissers, Sreehari Kalvakuri, Elke de Boer, et al.American Journal of Human Genetics|April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.Pageof 3