Rosenberg, Carla

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics

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Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors

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High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation

Jehee, F. S., Krepischi-Santos, A. C. V., Rocha, K. M., Cavalcanti, D. P., Kim, C. A., Bertola, D. R., Alonso, L. G., D’Angelo, C. S., Mazzeu, J. F., Froyen, G., et al. (2008) · Journal of Medical Genetics

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A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation

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Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting

Mazzonetto, P. C., Villela, D., da Costa, S. S., Krepischi, A. C. V., Milanezi, F., Migliavacca, M. P., Pierry, P. M., Bonaldi, A., Almeida, L. G. D., De Souza, C. A., et al. (2024) · Annals of Human Genetics

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