Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies

by Mazzarotto, Francesco, Hawley, Megan H., Beltrami, Matteo, Beekman, Leander, De Marvao, Antonio, Mcgurk, Kathryn A., Statton, Ben, Boschi, Beatrice, Girolami, Francesca, Roberts, Angharad M., Lodder, Elisabeth M., Allouba, Mona, Romeih, Soha, Aguib, Yasmine, Baksi, A. John, Pantazis, Antonis, Prasad, Sanjay K., Cerbai, Elisabetta, Yacoub, Magdi H., O’Regan, D.P., Cook, Stuart A., Ware, James S., Funke, Birgit, Olivotto, Iacopo, Bezzina, Connie R., Barton, Paul J. R., Walsh, Roddy
Published 2022

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

by Zhang, Xiaolei, Walsh, Roddy, Whiffin, Nicola, Buchan, Rachel, Midwinter, William, Wilk, Alicja, Govind, Risha, Li, Nicholas, Ahmad, Mian, Mazzarotto, Francesco, Roberts, Angharad, Theotokis, Pantazis I., Mazaika, Erica, Allouba, Mona, de Marvao, Antonio, Pua, Chee Jian, Day, Sharlene M., Ashley, Euan, Colan, Steven D., Michels, Michelle, Pereira, Alexandre C., Jacoby, Daniel, Ho, Carolyn Y., Olivotto, Iacopo, Gunnarsson, Gunnar T., Jefferies, John L., Semsarian, Chris, Ingles, Jodie, O’Regan, D.P., Aguib, Yasmine, Yacoub, Magdi H., Cook, Stuart A., Barton, Paul J. R., Bottolo, Leonardo, Ware, James S.
Published 2022