Repetto, Gabriela M.

Practical guidelines for managing adults with 22q11.2 deletion syndrome

Fung, W. L. A., Butcher, N. J., Costain, G., Andrade, D. M., Boot, E., Chow, E. W. C., Chung, B., Cytrynbaum, C., Faghfoury, H., Fishman, L., et al. (2015) · Genetics in Medicine

Genomic variations and chromosomal abnormalitiesImmunodeficiency and Autoimmune Disorders

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Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

Shamseldin, H. E., Alshammari, M., Al-Sheddi, T., Salih, M. A., Alkhalidi, H., Kentab, A., Repetto, G. M., Hashem, M., & Alkuraya, F. S. (2012) · Journal of Medical Genetics

Mitochondrial Function and PathologyGenomics and Rare Diseases

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Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

International 22q11.2 Brain and Behavior Consortium, Davies, R. W., Fiksinski, A. M., Breetvelt, E. J., Williams, N. M., Hooper, S. R., Monfeuga, T., Bassett, A. S., Owen, M. J., Gur, R. E., et al. (2020) · Nature Medicine

Schizophrenia research and treatmentGenomic variations and chromosomal abnormalities

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TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features

Balestrini, S., Milh, M., Castiglioni, C., Lüthy, K., Finelli, M. J., Verstreken, P., Cardon, A., Stražišar, B. G., Holder, J. L., Lesca, G., et al. (2016) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

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Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs

Sønderby, I. E., Ching, C. R. K., Thomopoulos, S. I., van der Meer, D., Sun, D., Villalon‐Reina, J. E., Agartz, I., Amunts, K., Arango, C., Armstrong, N. J., et al. (2022) · Human Brain Mapping

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

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