U1 snRNP protects pre-mRNAs from premature cleavage and polyadenylation
Dreyfuss, Gideon, Kaida, Daisuke, Berg, Michael G, Younis, Ihab, Kasim, Mumtaz, Singh, Larry N, Wan, Lili
Published in Nature (London) (02.12.2010)
Published in Nature (London) (02.12.2010)
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Journal Article
Comprehensive Multi-omics Analysis Reveals Mitochondrial Stress as a Central Biological Hub for Spaceflight Impact
da Silveira, Willian A., Fazelinia, Hossein, Rosenthal, Sara Brin, Laiakis, Evagelia C., Kim, Man S., Meydan, Cem, Kidane, Yared, Rathi, Komal S., Smith, Scott M., Stear, Benjamin, Ying, Yue, Zhang, Yuanchao, Foox, Jonathan, Zanello, Susana, Crucian, Brian, Wang, Dong, Nugent, Adrienne, Costa, Helio A., Zwart, Sara R., Schrepfer, Sonja, Elworth, R.A. Leo, Sapoval, Nicolae, Treangen, Todd, MacKay, Matthew, Gokhale, Nandan S., Horner, Stacy M., Singh, Larry N., Wallace, Douglas C., Willey, Jeffrey S., Schisler, Jonathan C., Meller, Robert, McDonald, J. Tyson, Fisch, Kathleen M., Hardiman, Gary, Taylor, Deanne, Mason, Christopher E., Costes, Sylvain V., Beheshti, Afshin
Published in Cell (25.11.2020)
Published in Cell (25.11.2020)
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Journal Article
Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes
Johnston, Jennifer J., Rubinstein, Wendy S., Facio, Flavia M., Ng, David, Singh, Larry N., Teer, Jamie K., Mullikin, James C., Biesecker, Leslie G.
Published in American journal of human genetics (13.07.2012)
Published in American journal of human genetics (13.07.2012)
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Journal Article
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
McCormick, Elizabeth M., Lott, Marie T., Dulik, Matthew C., Shen, Lishuang, Attimonelli, Marcella, Vitale, Ornella, Karaa, Amel, Bai, Renkui, Pineda‐Alvarez, Daniel E., Singh, Larry N., Stanley, Christine M., Wong, Stacey, Bhardwaj, Anshu, Merkurjev, Daria, Mao, Rong, Sondheimer, Neal, Zhang, Shiping, Procaccio, Vincent, Wallace, Douglas C., Gai, Xiaowu, Falk, Marni J.
Published in Human mutation (01.12.2020)
Published in Human mutation (01.12.2020)
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Journal Article
Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy
Zhang, Zhenxi, Pinto, Anna Maria, Wan, Lili, Wang, Wei, Berg, Michael G., Oliva, Isabela, Singh, Larry N., Dengler, Christopher, Wei, Zhi, Dreyfuss, Gideon
Published in Proceedings of the National Academy of Sciences - PNAS (26.11.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (26.11.2013)
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Journal Article
Association Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders
Chalkia, Dimitra, Singh, Larry N, Leipzig, Jeremy, Lvova, Maria, Derbeneva, Olga, Lakatos, Anita, Hadley, Dexter, Hakonarson, Hakon, Wallace, Douglas C
Published in JAMA psychiatry (Chicago, Ill.) (01.11.2017)
Published in JAMA psychiatry (Chicago, Ill.) (01.11.2017)
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Journal Article
U1 snRNP Determines mRNA Length and Regulates Isoform Expression
Berg, Michael G., Singh, Larry N., Younis, Ihab, Liu, Qiang, Pinto, Anna Maria, Kaida, Daisuke, Zhang, Zhenxi, Cho, Sungchan, Sherrill-Mix, Scott, Wan, Lili, Dreyfuss, Gideon
Published in Cell (06.07.2012)
Published in Cell (06.07.2012)
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Journal Article
Changes at the nuclear lamina alter binding of pioneer factor Foxa2 in aged liver
Whitton, Holly, Singh, Larry N., Patrick, Marissa A., Price, Andrew J., Osorio, Fernando G., López‐Otín, Carlos, Bochkis, Irina M.
Published in Aging cell (01.06.2018)
Published in Aging cell (01.06.2018)
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Journal Article
Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations
Johnston, Jennifer J., Lewis, Katie L., Ng, David, Singh, Larry N., Wynter, Jamila, Brewer, Carmen, Brooks, Brian P., Brownell, Isaac, Candotti, Fabio, Gonsalves, Steven G., Hart, Suzanne P., Kong, Heidi H., Rother, Kristina I., Sokolic, Robert, Solomon, Benjamin D., Zein, Wadih M., Cooper, David N., Stenson, Peter D., Mullikin, James C., Biesecker, Leslie G.
Published in American journal of human genetics (04.06.2015)
Published in American journal of human genetics (04.06.2015)
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Journal Article
VWA3A-derived ependyma promoter drives increased therapeutic protein secretion into the CSF
Carrell, Ellie M., Chen, Yong Hong, Ranum, Paul T., Coffin, Stephanie L., Singh, Larry N., Tecedor, Luis, Keiser, Megan S., Hudry, Eloise, Hyman, Bradley T., Davidson, Beverly L.
Published in Molecular therapy. Nucleic acids (12.09.2023)
Published in Molecular therapy. Nucleic acids (12.09.2023)
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Journal Article
Interpreting Secondary Cardiac Disease Variants in an Exome Cohort
Ng, David, Johnston, Jennifer J., Teer, Jamie K., Singh, Larry N., Peller, Lindsey C., Wynter, Jamila S., Lewis, Katie L., Cooper, David N., Stenson, Peter D., Mullikin, James C., Biesecker, Leslie G.
Published in Circulation. Cardiovascular genetics (01.08.2013)
Published in Circulation. Cardiovascular genetics (01.08.2013)
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Journal Article
Mitochondrial DNA variation and cancer
Kopinski, Piotr K, Singh, Larry N, Zhang, Shiping, Lott, Marie T, Wallace, Douglas C
Published in Nature reviews. Cancer (01.07.2021)
Published in Nature reviews. Cancer (01.07.2021)
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Journal Article
Mitochondrial disease disrupts hepatic allostasis and lowers the threshold for immune-mediated liver toxicity
Jestin, Maxim, Kapnick, Senta M., Tarasenko, Tatyana N., Burke, Cassidy T., Zerfas, Patricia M., Diaz, Francisca, Vernon, Hilary, Singh, Larry N., Sokol, Ronald J., McGuire, Peter J.
Published in Molecular metabolism (Germany) (01.07.2020)
Published in Molecular metabolism (Germany) (01.07.2020)
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Journal Article
A new mouse model of mild ornithine transcarbamylase deficiency (spf-j) displays cerebral amino acid perturbations at baseline and upon systemic immune activation
Tarasenko, Tatyana N, Rosas, Odrick R, Singh, Larry N, Kristaponis, Kara, Vernon, Hilary, McGuire, Peter J
Published in PloS one (03.02.2015)
Published in PloS one (03.02.2015)
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Journal Article
Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
Towheed, Atif, Hietanen, Christian L., Kamath, Vasudeva G., Singh, Larry N., Ho, Angela, Engelstad, Kristin, Cornett, Kayla, Montes, Jacqueline, De Vivo, Darryl
Published in Annals of clinical and translational neurology (01.11.2021)
Published in Annals of clinical and translational neurology (01.11.2021)
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Journal Article
Integrative DNA, RNA, and Protein Evidence Connects TREML4 to Coronary Artery Calcification
Sen, Shurjo K., Boelte, Kimberly C., Barb, Jennifer J., Joehanes, Roby, Zhao, XiaoQing, Cheng, Qi, Adams, Lila, Teer, Jamie K., Accame, David S., Chowdhury, Soma, Singh, Larry N., Kavousi, Maryam, Peyser, Patricia A., Quigley, Laura, Priel, Debra Long, Lau, Karen, Kuhns, Douglas B., Yoshimura, Teizo, Johnson, Andrew D., Hwang, Shih-Jen, Chen, Marcus Y., Arai, Andrew E., Green, Eric D., Mullikin, James C., Kolodgie, Frank D., O’Donnell, Christopher J., Virmani, Renu, Munson, Peter J., McVicar, Daniel W., Biesecker, Leslie G.
Published in American journal of human genetics (03.07.2014)
Published in American journal of human genetics (03.07.2014)
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Journal Article
Correlated evolution of positions within mammalian cis elements
Mukherjee, Rithun, Evans, Perry, Singh, Larry N, Hannenhalli, Sridhar
Published in PloS one (08.02.2013)
Published in PloS one (08.02.2013)
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