A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome
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
Published in Nature genetics (01.09.2013)
Published in Nature genetics (01.09.2013)
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Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency
Abdelhakim, Aliaa H, Dharmadhikari, Avinash V, Ragi, Sara D, de Carvalho, Jr, 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
Published in Orphanet journal of rare diseases (13.11.2020)
Published in Orphanet journal of rare diseases (13.11.2020)
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Suppressor mutations in Mecp2 -null mice implicate the DNA damage response in Rett syndrome pathology
Enikanolaiye, Adebola, Ruston, Julie, Zeng, Rong, Taylor, Christine, Schrock, Marijke, Buchovecky, Christie M, Shendure, Jay, Acar, Elif, Justice, Monica J
Published in Genome research (01.04.2020)
Published in Genome research (01.04.2020)
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Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis
Cohen, Adi, Hostyk, Joseph, Baugh, Evan H., Buchovecky, Christie M., Aggarwal, Vimla S., Recker, Robert R., Lappe, Joan M., Dempster, David W., Zhou, Hua, Kamanda-Kosseh, Mafo, Bucovsky, Mariana, Stubby, Julie, Goldstein, David B., Shane, Elizabeth
Published in Bone (New York, N.Y.) (01.01.2022)
Published in Bone (New York, N.Y.) (01.01.2022)
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Literature-based automated discovery of tumor suppressor p53 phosphorylation and inhibition by NEK2
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
Published in Proceedings of the National Academy of Sciences - PNAS (16.10.2018)
Published in Proceedings of the National Academy of Sciences - PNAS (16.10.2018)
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Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis
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
Published in Human genetics (01.11.2020)
Published in Human genetics (01.11.2020)
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Strain background influences neurotoxicity and behavioral abnormalities in mice expressing the tetracycline transactivator
Han, Harry J, Allen, Carolyn C, Buchovecky, Christie M, Yetman, Michael J, Born, Heather A, Marin, Miguel A, Rodgers, Shaefali P, Song, Bryan J, Lu, Hui-Chen, Justice, Monica J, Probst, Frank J, Jankowsky, Joanna L
Published in The Journal of neuroscience (01.08.2012)
Published in The Journal of neuroscience (01.08.2012)
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A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome
Ganapathi, Mythily, Buchovecky, Christie M, Cristo, Fernando, Ahimaz, Priyanka, Ruzal-Shapiro, Carrie, Wou, Karen, Inácio, José M, Iglesias, Alejandro, Belo, José A, Jobanputra, Vaidehi
Published in Cold Spring Harbor molecular case studies (01.12.2022)
Published in Cold Spring Harbor molecular case studies (01.12.2022)
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Journal Article
A suppressor screen in mouse Mecp2 implicates cholesterol metabolism in Rett Syndrome
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.
Published in Nature genetics (28.07.2013)
Published in Nature genetics (28.07.2013)
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Journal Article
Suppressor mutations in Mecp2-null mice reveal that the DNA damage response is key to Rett syndrome pathology
Enikanolaiye, Adebola, Ruston, Julie, Zeng, Rong, Taylor, Christine, Schrock, Marijke V, Buchovecky, Christie M, Shendure, Jay, Acar, Elif, Justice, Monica J
Published in bioRxiv (19.10.2019)
Published in bioRxiv (19.10.2019)
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