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Hadeer Abdel Ghany on Muck Rack

Hadeer Abdel Ghany

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Articles

Genotype-phenotype single-cell transcriptomics for massive parallel assessment of genetic variants

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By Lorenzo Vaccaro, Francesco Panariello, Antonio Maria Grimaldi, Marcello Salvi, Roberta Capuana, Patrizia Annunziata, Chiara Colantuono, Lukas Schertler, Gennaro Gambardella, Riccardo Arnese, Emanuele Agolini, Claudia Cesario, Ibrahim M. Abdelrazek, Antonio Novelli, Beatrice Salvatori, Marcella Cesana, Christoph Ziegenhain, Caterina Missero, Davide Cacchiarelli, Rosa De Santis, Gennaro Gandolfo, Mirella Massa, Tonya Fusco, Sara Riccardo, Giuseppe Martone, Martina Bamundo, Emmanouella Michaela Xanthopoulou, Cleo Damon, Hadeer Abdel Ghany
| Nature Verified
Abstract Predicting the pathogenic effect of rare genetic variants is significantly hampered by the limited cohort of diagnosed patients and the difficulty in functionally evaluating the effect of existing and novel variants. To address this issue, we leveraged a protein Multiplexed Assay of Variants Effect (MAVE) to functionally assess the effect of ~ 2200 missense variants of the TP63 gene, some of which cause autosomal dominant developmental disorders.
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