Suppressor mutations in Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology

por Enikanolaiye, Adebola, Ruston, Julie, Zeng, Rong, Taylor, Christine, Schrock, Marijke, Buchovecky, Christie M., Shendure, Jay, Acar, Elif, Justice, Monica J.
Publicado 2020

A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome

por Ganapathi, Mythily, Buchovecky, Christie M., Cristo, Fernando, Ahimaz, Priyanka, Ruzal-Shapiro, Carrie, Wou, Karen, Inácio, José M., Iglesias, Alejandro, Belo, José A., Jobanputra, Vaidehi
Publicado 2022

A suppressor screen in mouse Mecp2 implicates cholesterol metabolism in Rett Syndrome

por Buchovecky, Christie M., Turley, Stephen D., Brown, Hannah M., Kyle, Stephanie M., McDonald, Jeffrey G., Liu, Benny, Pieper, Andrew A., Huang, Wenhui, Katz, David M., Russell, David W., Shendure, Jay, Justice, Monica J.
Publicado 2013

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center

por Ganapathi, Mythily, Thomas-Wilson, Amanda, Buchovecky, Christie, Dharmadhikari, Avinash, Barua, Subit, Lee, Winston, Ruan, Merry Z. C., Soucy, Megan, Ragi, Sara, Tanaka, Joy, Clark, Lorraine N., Naini, Ali B., Liao, Jun, Mansukhani, Mahesh, Tsang, Stephen, Jobanputra, Vaidehi
Publicado 2022

Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency

por Abdelhakim, Aliaa H., Dharmadhikari, Avinash V., Ragi, Sara D., de Carvalho, Jose Ronaldo Lima, Xu, Christine L., Thomas, Amanda L., Buchovecky, Christie M., Mansukhani, Mahesh M., Naini, Ali B., Liao, Jun, Jobanputra, Vaidehi, Maumenee, Irene H., Tsang, Stephen H.
Publicado 2020

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

por Ganapathi, Mythily, Argyriou, Loukas, Martínez-Azorín, Francisco, Morlot, Susanne, Yigit, Gökhan, Lee, Teresa M., Auber, Bernd, von Gise, Alexander, Petrey, Donald S., Thiele, Holger, Cyganek, Lukas, Sabater-Molina, María, Ahimaz, Priyanka, Cabezas-Herrera, Juan, Sorlí-García, Moisés, Zibat, Arne, Siegelin, Markus D., Burfeind, Peter, Buchovecky, Christie M., Hasenfuss, Gerd, Honig, Barry, Li, Yun, Iglesias, Alejandro D., Wollnik, Bernd
Publicado 2020

Literature-based automated discovery of tumor suppressor p53 phosphorylation and inhibition by NEK2

por Choi, Byung-Kwon, Dayaram, Tajhal, Parikh, Neha, Wilkins, Angela D., Nagarajan, Meena, Novikov, Ilya B., Bachman, Benjamin J., Jung, Sung Yun, Haas, Peter J., Labrie, Jacques L., Pickering, Curtis R., Adikesavan, Anbu K., Regenbogen, Sam, Kato, Linda, Lelescu, Ana, Buchovecky, Christie M., Zhang, Houyin, Bao, Sheng Hua, Boyer, Stephen, Weber, Griff, Scott, Kenneth L., Chen, Ying, Spangler, Scott, Donehower, Lawrence A., Lichtarge, Olivier
Publicado 2018