Deborah Osio
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Connective tissue disorders research, RNA modifications and cancer
Most-Cited Works
- → Evidence for 28 genetic disorders discovered by combining healthcare and research data(2020)646 cited
- → Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families(2015)162 cited
- → Improved final height with long‐term growth hormone treatment in Noonan syndrome(2005)99 cited
- → The contribution of X-linked coding variation to severe developmental disorders(2021)63 cited
- → De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder(2019)62 cited
- → End Results in Central Precocious Puberty with GnRH Analog Treatment: The Data of the Italian Study Group for Physiopathology of Puberty(2000)38 cited
- → Improved final height with long-term growth hormone treatment in Noonan syndrome(2005)30 cited
- → A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants(2019)29 cited
- → Genotype–phenotype correlation at codon 1740 of SETD2(2020)23 cited
- → Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome(2022)21 cited