S
Sean O'Keeffe
Researcher at Columbia University
Publications - 24
Citations - 8085
Sean O'Keeffe is an academic researcher from Columbia University. The author has contributed to research in topics: Gene & Cell type. The author has an hindex of 19, co-authored 23 publications receiving 6455 citations. Previous affiliations of Sean O'Keeffe include Columbia University Medical Center & Max Planck Society.
Papers
More filters
Journal ArticleDOI
An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex
Ye Zhang,Kenian Chen,Steven A. Sloan,Mariko L. Bennett,Anja R. Scholze,Sean O'Keeffe,Hemali Phatnani,Paolo Guarnieri,Christine Caneda,Nadine Ruderisch,Shuyun Deng,Shane A. Liddelow,Chaolin Zhang,Richard Daneman,Tom Maniatis,Ben A. Barres,Jian Qian Wu +16 more
TL;DR: The authors' data provide clues as to how neurons and astrocytes differ in their ability to dynamically regulate glycolytic flux and lactate generation attributable to unique splicing of PKM2, the gene encoding the glycoleytic enzyme pyruvate kinase.
Journal ArticleDOI
A Global View of Gene Activity and Alternative Splicing by Deep Sequencing of the Human Transcriptome
Marc Sultan,Marcel H. Schulz,Marcel H. Schulz,Hugues Richard,Alon Magen,Andreas Klingenhoff,Matthias Scherf,Martin Seifert,Tatjana Borodina,Aleksey V. Soldatov,Dmitri Parkhomchuk,Dominic Schmidt,Sean O'Keeffe,Stefan A. Haas,Martin Vingron,Hans Lehrach,Marie-Laure Yaspo +16 more
TL;DR: A global survey of messenger RNA splicing events identified 94,241 splice junctions and showed that exon skipping is the most prevalent form of alternative splicing.
Journal ArticleDOI
A Neurodegeneration-Specific Gene-Expression Signature of Acutely Isolated Microglia from an Amyotrophic Lateral Sclerosis Mouse Model
Isaac M. Chiu,Emiko T.A. Morimoto,Hani Goodarzi,Jennifer T. Liao,Sean O'Keeffe,Hemali Phatnani,Michael Muratet,Michael C. Carroll,Shawn Levy,Saeed Tavazoie,Richard M. Myers,Tom Maniatis +11 more
TL;DR: It is found that SOD1(G93A) microglia are not derived from infiltrating monocytes, and that both potentially neuroprotective and toxic factors, including Alzheimer's disease genes, are concurrently upregulated.
Journal ArticleDOI
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Cristopher V. Van Hout,Ioanna Tachmazidou,Ioanna Tachmazidou,Joshua D. Backman,Joshua D. Hoffman,Daren Liu,Ashutosh K. Pandey,Claudia Gonzaga-Jauregui,Shareef Khalid,Bin Ye,Nilanjana Banerjee,Alexander H. Li,Colm O'Dushlaine,Anthony Marcketta,Jeffrey Staples,Claudia Schurmann,Claudia Schurmann,Alicia Hawes,Evan Maxwell,Leland Barnard,Alexander Lopez,John Penn,Lukas Habegger,Andrew Blumenfeld,Xiaodong Bai,Sean O'Keeffe,Ashish Yadav,Kavita Praveen,Marcus B. Jones,William J Salerno,Wendy K. Chung,Ida Surakka,Cristen J. Willer,Kristian Hveem,Joseph B. Leader,David J. Carey,David H. Ledbetter,Lon R. Cardon,George D. Yancopoulos,Aris N. Economides,Giovanni Coppola,Alan R. Shuldiner,Suganthi Balasubramanian,Michael N. Cantor,Matthew R. Nelson,John C. Whittaker,Jeffrey G. Reid,Jonathan Marchini,John D. Overton,Robert A. Scott,Gonçalo R. Abecasis,Laura M. Yerges-Armstrong,Aris Baras +52 more
TL;DR: The release of exome-sequence data for the first 49,960 study participants, revealing approximately 4 million coding variants, illustrating the power of characterizing LOF variants in this population through association analyses across 1,730 phenotypes and demonstrating the value of genome sequencing in large population-based studies.
Journal ArticleDOI
Accelerated High-Yield Generation of Limb-Innervating Motor Neurons from Human Stem Cells
Mackenzie W. Amoroso,Gist F. Croft,Damian J. Williams,Sean O'Keeffe,Monica A. Carrasco,Anne R. Davis,Laurent Roybon,Derek H. Oakley,Tom Maniatis,Christopher E. Henderson,Hynek Wichterle +10 more
TL;DR: This novel protocol preferentially generates motor neurons expressing markers of limb-innervating lateral motor column motor neurons (FOXP1+/LHX3−) and will facilitate in-depth study of motor neuron subtype-specific properties, disease modeling, and development of large-scale cell-based screening assays.