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Nature Genetics|July 15, 2014
Mutations in ZBTB20 cause Primrose syndromeViviana Cordeddu, Bert Redeker, Emilia Stellacci, et al.Cancer Letters|February 29, 2024
Clinicopathological and molecular landscape of 5-year IDH-wild-type glioblastoma survivors: A multicentric retrospective studyEvelina Miele, Elena Anghileri, Chiara Calatozzolo, et al.Brain : a Journal of Neurology|June 26, 2026
GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorderPinella Failla, Valentina Muto, Antonella Lauri, et al.American Journal of Human Genetics|November 13, 2020
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal NeurodevelopmentCatherine Rodger, Elisabetta Flex, Rachel J Allison, et al.International Journal of Molecular Sciences|February 15, 2022
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related SyndromeAidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, et al.Nature Communications|April 11, 2023
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformationUirá Souto Melo, Jerome Jatzlau, Cesar A Prada-Medina, et al.Haematologica|May 9, 2020
CD28.OX40 co-stimulatory combination is associated with long in vivo persistence and high activity of CAR.CD30 T-cellsMarika Guercio, Domenico Orlando, Stefano Di Cecca, et al.Parkinsonism & Related Disorders|March 3, 2020
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonismSimone Martinelli, Viviana Cordeddu, Serena Galosi, et al.American Journal of Human Genetics|April 14, 2015
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like FaciesMarcello Niceta, Emilia Stellacci, Karen W Gripp, et al.American Journal of Human Genetics|October 21, 2023
Identification of a robust DNA methylation signature for Fanconi anemiaDaria Pagliara, Andrea Ciolfi, Lucia Pedace, et al.Pageof 12