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Chris Balak

Translational Genomics Research Institute

18

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272

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Extracellular circular RNA profiles in plasma and urine of healthy, male college athletes.

2021 Scientific Data
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Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

2020 Neurology Genetics
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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

2019 American Journal of Human Genetics
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Author response for "Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2 "

2019
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Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2

2019 Clinical Genetics
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A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype

2018 American Journal of Medical Genetics Part A
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De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy

2018 American Journal of Medical Genetics Part A
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Associations of MAP2K3 gene variants with superior memory in SuperAgers

2018 Frontiers in Aging Neuroscience
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Total Extracellular Small RNA Profiles from Plasma, Saliva, and Urine of Healthy Subjects

2017 Scientific Reports
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Exploring genome-wide DNA methylation patterns in Aicardi syndrome.

2017 Epigenomics
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