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Barbara Pasini on Muck Rack

Barbara Pasini

As seen in: Nature
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Articles

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes - European Journal of Human Genetics

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By Lisa Pavinato, Diana Carli, Paola Dimartino, Giorgia Mandrile, Silvia De Rubeis, Joseph D. Buxbaum, Tommaso Pippucci, Marco Tartaglia, Massimo Delledonne, Chiara Giovenino, Verdiana Pullano, Elena Sukarova-Angelovska, Anthony Battaglia, Tawfiq Froukh, Barbara Pasini
| Nature Verified
Abstract Despite major advances in genome technology and analysis, >50% of patients with a neurodevelopmental disorder (NDD) remain undiagnosed after extensive evaluation. A point in case is our clinically heterogeneous cohort of NDD patients that remained undiagnosed after FRAXA testing, chromosomal microarray analysis and trio exome sequencing (ES).
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