Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof‐of‐concept examples期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof‐of‐concept examples

Authors:	Elisa Giorgio Andrea Ciolfi Elisa Biamino Viviana Caputo Eleonora Di Gregorio Elga Fabia Belligni Alessandro Calcia Elena Gaidolfi Alessandro Bruselles Cecilia Mancini Simona Cavalieri Cristina Molinatto Margherita Cirillo Silengo Giovanni Battista Ferrero Marco Tartaglia Alfredo Brusco

Affiliation:	1. Department of Medical Sciences, University of Torino, Turin, Italy;2. Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, Italy;3. Centro di Ricerca per gli alimenti e la nutrizione, CREA, Rome, Italy;4. Department of Public Health and Pediatrics, University of Torino, Turin, Italy;5. Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy;6. Città della Salute e della Scienza University Hospital, Medical Genetics Unit, Turin, Italy;7. Centro Diagnostico Cernaia, Magnetic Resonance Unit, Turin, Italy;8. Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy;9. Correspondence to:;10. Alfredo Brusco, Ph.D., Department of Medical Sciences, University of Torino, via Santena 19, 10126, Torino, Italy.;11. E‐mail:

Abstract:

Keywords:	whole exome sequencing de novo CNV intellectual disability VLDRL TRAPPC9