Claudia M.B. Carvalho
Broad Institute(US)Pacific Northwest Diabetes Research Institute(US)Massachusetts Eye and Ear Infirmary(US)Seattle Children's Hospital(US)European Bioinformatics Institute(GB)Harvard University(US)Illumina (United States)(US)Baylor College of Medicine(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Wnt/β-catenin signaling in development and cancer
Most-Cited Works
- → A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders(2007)904 cited
- → Mechanisms underlying structural variant formation in genomic disorders(2016)804 cited
- → Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype(2007)426 cited
- → Detection of mosaic and population-level structural variants with Sniffles2(2024)399 cited
- → Mechanisms for recurrent and complex human genomic rearrangements(2012)343 cited
- → Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome(2009)300 cited