Gerarda Cappuccio
Beth Israel Deaconess Medical Center(US)Baylor College of Medicine(US)Neurological Research Institute(US)Federico II University Hospital(IT)Texas Children's Hospital(US)Telethon Institute Of Genetics And Medicine(IT)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Epigenetics and DNA Methylation, Congenital heart defects research
Most-Cited Works
- → Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders(2020)209 cited
- → Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders(2021)152 cited
- → Paralog Studies Augment Gene Discovery: DDX and DHX Genes(2019)111 cited
- → Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study(2020)110 cited
- → Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis(2019)83 cited
- → Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders(2022)77 cited