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

بواسطة 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
منشور في 2022

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

بواسطة 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.
منشور في 2022