Brady, Lauren

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

Aref-Eshghi, E., Bend, E. G., Colaiacovo, S., Caudle, M., Chakrabarti, R., Napier, M., Brick, L., Brady, L., Carere, D. A., Levy, M. A., et al. (2019) · The American Journal of Human Genetics

Genomics and Rare DiseasesEpigenetics and DNA Methylation

Cited by 201

Peroxisomal D-bifunctional protein deficiency

Lines, M. A., Jobling, R., Brady, L., Marshall, C. R., Scherer, S. W., Rodriguez, A. R., Lee, L., Lang, A. E., Mestre, T. A., Wanders, R. J. A., et al. (2014) · Neurology

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 70

Spliceosome Malfunction Causes Neurodevelopmental Disorders with Overlapping Features

Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., et al. (2024) · Journal of Clinical Investigation

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 46

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

Muir, A. M., Gardner, J. F., van Jaarsveld, R. H., de Lange, I. M., van der Smagt, J. J., Wilson, G. N., Dubbs, H., Goldberg, E. M., Zitano, L., Bupp, C., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 35

Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy

Hannah-Shmouni, F., MacNeil, L., Brady, L., Nilsson, M. I., & Tarnopolsky, M. (2019) · Frontiers in Neurology

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 19