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NPJ Genomic Medicine|January 29, 2022
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorderRaman Kumar, Mark A Corbett, Nicholas J C Smith, et al.Journal of Medical Genetics|May 23, 2020
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disabilityArisha Rasheed, Evren Gumus, Maha Zaki, et al.BMC Medical Genomics|May 15, 2020
Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in familiesMahmoud Y Issa, Zinayida Chechlacz, Valentina Stanley, et al.Nature Medicine|August 9, 2024
Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorderAlban Ziegler, Joanne Carroll, Jennifer M Bain, et al.Cell Reports|January 15, 2023
Reversibility and developmental neuropathology of linear nevus sebaceous syndrome caused by dysregulation of the RAS pathwayYe Eun Kim, Yong-Seok Kim, Hee-Eun Lee, et al.Nature Communications|November 12, 2024
A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseasesOlivia Kim-McManus, Joseph G Gleeson, Laurence Mignon, et al.Nature Genetics|July 19, 2016
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discoveryEric M Scott, Anason Halees, Yuval Itan, et al.Nucleic Acids Research|July 6, 2019
NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAsLindsey Van Haute, Song-Yi Lee, Beverly J McCann, et al.American Journal of Medical Genetics. Part A|August 19, 2023
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndromeM Makenzie Beaman, Lucia Guidugli, Monia Hammer, et al.American Journal of Human Genetics|March 12, 2013
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalitiesFarid Radmanesh, Ahmet Okay Caglayan, Jennifer L Silhavy, et al.Pageof 31