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Biorxiv : the Preprint Server for Biology|August 23, 2023
An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variantsBruce Nmezi, Guillermo Rodriguez Bey, Talia DeFrancesco Oranburg, et al.
Nature Communications|February 5, 2025
An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variantsBruce Nmezi, Guillermo Rodriguez Bey, Talia DeFrancesco Oranburg, et al.
EMBO Molecular Medicine|April 4, 2023
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stabilityDirenis Erdinc, Alejandro Rodríguez-Luis, Mahmoud R Fassad, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiencyWilliam P Bone, Nicole L Washington, Orion J Buske, et al.
Neurology. Clinical Practice|April 12, 2021
Facial Onset Sensory and Motor Neuronopathy: New Cases, Cognitive Changes, and PathophysiologyEva M J de Boer, Andrew W Barritt, Marwa Elamin, et al.
Human Mutation|May 8, 2013
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expressionElisa Giorgio, Harshvardhan Rolyan, Laura Kropp, et al.
Brain : a Journal of Neurology|October 1, 2022
Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndromeAriane Soldatos, Thomas B Nutman, Tory Johnson, et al.
American Journal of Human Genetics|July 3, 2018
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic FeaturesMari J Tokita, Chun-An Chen, David Chitayat, et al.
Human Genetics|October 15, 2021
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathyMary C Whitman, Brenda J Barry, Caroline D Robson, et al.
Annals of Neurology|July 29, 2024
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual DisabilityArkaprava Roychaudhury, Yu-Ri Lee, Tae-Ik Choi, et al.
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