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European Journal of Human Genetics : EJHG|February 5, 2024
Mutations of GEMIN5 are associated with coenzyme Q<sub>10</sub> deficiency: long-term follow-up after treatmentMarivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, et al.Frontiers in Cell and Developmental Biology|March 17, 2022
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in <i>GEMIN5</i>Deepa S Rajan, Sukhleen Kour, Tyler R Fortuna, et al.Cancer Discovery|January 9, 2021
Design and Efficacy of a Monovalent Bispecific PD-1/CTLA4 Antibody That Enhances CTLA4 Blockade on PD-1<sup>+</sup> Activated T CellsSimon J Dovedi, Matthew J Elder, Chunning Yang, et al.Annals of Neurology|June 10, 2019
Autism and developmental disability caused by KCNQ3 gain-of-function variantsTristan T Sands, Francesco Miceli, Gaetan Lesca, et al.Neurology|May 11, 2016
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathyJohannes R Lemke, Kirsten Geider, Katherine L Helbig, et al.American Journal of Human Genetics|December 30, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.Medrxiv : the Preprint Server for Health Sciences|April 16, 2025
De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.Neurology|January 2, 2024
Molecular and Phenotypic Characterization of the <i>RORB</i>-Related DisorderZeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, et al.Nature Communications|May 8, 2021
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorderSukhleen Kour, Deepa S Rajan, Tyler R Fortuna, et al.Pageof 16