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Corrado Romano | doi.page

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Corrado Romano

Publications by Year

Research Areas

Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Congenital heart defects research, Nail Diseases and Treatments

Most-Cited Works

→ Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes(2008)806 cited
→ Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development(2014)800 cited
→ Refining analyses of copy number variation identifies specific genes associated with developmental delay(2014)744 cited
→ A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay(2010)671 cited
→ PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome(1999)610 cited
→ Selective recruitment of high‐threshold human motor units during voluntary isotonic lengthening of active muscles.(1989)605 cited

→ A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures(2008)

591 cited

→ Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases(2017)571 cited

→ 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy(2009)555 cited

→ A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism(2006)470 cited