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Journal of Inherited Metabolic Disease|June 26, 2025
Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine SupplementationJonathan Marquez, Stephen Viviano, Fahmid Rahman, et al.
Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
<i>De novo</i> variants in <i>PLCG1</i> are associated with hearing impairment, ocular pathology, and cardiac defectsMengqi Ma, Yiming Zheng, Shenzhao Lu, et al.
Elife|August 27, 2025
Heterozygous variants in <i>PLCG1</i> affect hearing, vision, cardiac, and immune functionMengqi Ma, Yiming Zheng, Mingxi Deng, et al.
Annals of Clinical and Translational Neurology|May 17, 2023
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndromeJonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 29, 2023
Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scoresJohn J Connolly, Eta S Berner, Maureen Smith, et al.
Neurology. Genetics|August 10, 2023
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2AAndrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Biorxiv : the Preprint Server for Biology|October 9, 2023
Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian conditionMitchell R Vollger, Jonas Korlach, Kiara C Eldred, et al.
Biorxiv : the Preprint Server for Biology|February 17, 2023
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2AAndrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Nature Genetics|January 29, 2025
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian conditionMitchell R Vollger, Jonas Korlach, Kiara C Eldred, et al.
American Journal of Human Genetics|August 6, 2024
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorderMarie Morimoto, Eunjin Ryu, Benjamin J Steger, et al.
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