Fernando Scaglia

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia et al. · Nature Genetics · 2008 · 635 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients With Mitochondrial Disease

Fernando Scaglia, Jeffrey A. Towbin, William J. Craigen et al. · PEDIATRICS · 2004 · 462 citations

Medicine, Cardiology, Pediatrics +17

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

Pengfei Liu, Ayelet Erez, Sandesh C. Sreenath Nagamani et al. · Cell · 2011 · 461 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Use of Exome Sequencing for Infants in Intensive Care Units

Linyan Meng, Mohan Pammi, Anirudh Saronwala et al. · JAMA Pediatrics · 2017 · 431 citations · Full text

Medicine, Genetics, Pediatrics +14

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Daniela del Gaudio, Ping Fang, Fernando Scaglia et al. · Genetics in Medicine · 2006 · 269 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14