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A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome
A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome
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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

Nature genetics, 2013-09, Vol.45 (9), p.1013-1020 [Periódico revisado por pares]

United States: Nature Publishing Group

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2
Strain background influences neurotoxicity and behavioral abnormalities in mice expressing the tetracycline transactivator
Strain background influences neurotoxicity and behavioral abnormalities in mice expressing the tetracycline transactivator
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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

The Journal of neuroscience, 2012-08, Vol.32 (31), p.10574-10586 [Periódico revisado por pares]

United States: Society for Neuroscience

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3
Evidence for Proton Acceleration up to TeV Energies Based on VERITAS and Fermi-LAT Observations of the Cas A SNR
Evidence for Proton Acceleration up to TeV Energies Based on VERITAS and Fermi-LAT Observations of the Cas A SNR
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Evidence for Proton Acceleration up to TeV Energies Based on VERITAS and Fermi-LAT Observations of the Cas A SNR

Abeysekara, A. U. ; Archer, A. ; Benbow, W. ; Bird, R. ; Brose, R. ; Buchovecky, M. ; Buckley, J. H. ; Chromey, A. J. ; Cui, W. ; Daniel, M. K. ; Das, S. ; Dwarkadas, V. V. ; Falcone, A. ; Feng, Q. ; Finley, J. P. ; Fortson, L. ; Gent, A. ; Gillanders, G. H. ; Giuri, C. ; Gueta, O. ; Hanna, D. ; Hassan, T. ; Hervet, O. ; Holder, J. ; Hughes, G. ; Humensky, T. B. ; Kaaret, P. ; Kar, P. ; Kelley-Hoskins, N. ; Kertzman, M. ; Kieda, D. ; Krause, M. ; Krennrich, F. ; Kumar, S. ; Lang, M. J. ; Maier, G. ; Moriarty, P. ; Mukherjee, R. ; Nievas-Rosillo, M. ; O'Brien, S. ; Ong, R. A. ; Park, N. ; Petrashyk, A. ; Pfrang, K. ; Pohl, M. ; Pueschel, E. ; Quinn, J. ; Ragan, K. ; Reynolds, P. T. ; Richards, G. T. ; Roache, E. ; Sadeh, I. ; Santander, M. ; Sembroski, G. H. ; Shahinyan, K. ; Sushch, I. ; Weinstein, A. ; Wilcox, P. ; Wilhelm, A. ; Williams, D. A. ; Williamson, T. J ; Zitzer, B. ; Ghiotto, A.

The Astrophysical journal, 2020-05, Vol.894 (1), p.51 [Periódico revisado por pares]

Philadelphia: The American Astronomical Society

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4
Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency
Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency
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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

Orphanet journal of rare diseases, 2020-11, Vol.15 (1), p.320-320, Article 320 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
Suppressor mutations in Mecp2 -null mice implicate the DNA damage response in Rett syndrome pathology
Suppressor mutations in Mecp2 -null mice implicate the DNA damage response in Rett syndrome pathology
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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

Genome research, 2020-04, Vol.30 (4), p.540-552 [Periódico revisado por pares]

United States: Cold Spring Harbor Laboratory Press

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6
Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis
Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis
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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

Bone (New York, N.Y.), 2022-01, Vol.154, p.116253-116253, Article 116253 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Literature-based automated discovery of tumor suppressor p53 phosphorylation and inhibition by NEK2
Literature-based automated discovery of tumor suppressor p53 phosphorylation and inhibition by NEK2
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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

Proceedings of the National Academy of Sciences - PNAS, 2018-10, Vol.115 (42), p.10666-10671 [Periódico revisado por pares]

United States: National Academy of Sciences

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8
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis
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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

Human genetics, 2020-11, Vol.139 (11), p.1443-1454 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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9
A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome
A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome
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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

Cold Spring Harbor molecular case studies, 2022-12, Vol.8 (7), p.a006248 [Periódico revisado por pares]

United States: Cold Spring Harbor Laboratory Press

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10
Dark matter constraints from a joint analysis of dwarf Spheroidal galaxy observations with VERITAS
Dark matter constraints from a joint analysis of dwarf Spheroidal galaxy observations with VERITAS
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Dark matter constraints from a joint analysis of dwarf Spheroidal galaxy observations with VERITAS

Archambault, S. ; Archer, A. ; Benbow, W. ; Bird, R. ; Bourbeau, E. ; Brantseg, T. ; Buchovecky, M. ; Buckley, J. H. ; Bugaev, V. ; Byrum, K. ; Cerruti, M. ; Christiansen, J. L. ; Connolly, M. P. ; Cui, W. ; Daniel, M. K. ; Feng, Q. ; Finley, J. P. ; Fleischhack, H. ; Fortson, L. ; Furniss, A. ; Geringer-Sameth, A. ; Griffin, S. ; Grube, J. ; Hütten, M. ; Håkansson, N. ; Hanna, D. ; Hervet, O. ; Holder, J. ; Hughes, G. ; Hummensky, B. ; Johnson, C. A. ; Kaaret, P. ; Kar, P. ; Kelley-Hoskins, N. ; Kertzman, M. ; Kieda, D. ; Koushiappas, S. ; Krause, M. ; Krennrich, F. ; Lang, M. J. ; Lin, T. T. Y. ; McArthur, S. ; Moriarty, P. ; Mukherjee, R. ; Nieto, D. ; O’Brien, S. ; Ong, R. A. ; Otte, A. N. ; Park, N. ; Pohl, M. ; Popkow, A. ; Pueschel, E. ; Quinn, J. ; Ragan, K. ; Reynolds, P. T. ; Richards, G. T. ; Roache, E. ; Rulten, C. ; Sadeh, I. ; Santander, M. ; Sembroski, G. H. ; Shahinyan, K. ; Smith, A. W. ; Staszak, D. ; Telezhinsky, I. ; Trepanier, S. ; Tucci, J. V. ; Tyler, J. ; Wakely, S. P. ; Weinstein, A. ; Wilcox, P. ; Williams, D. A. ; Zitzer, B.

Physical review. D, 2017-04, Vol.95 (8), Article 082001 [Periódico revisado por pares]

College Park: American Physical Society

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