Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Stephanie N Kravitz"'
Autor:
Stephanie N. Kravitz, Elliott Ferris, Michael I. Love, Alun Thomas, Aaron R. Quinlan, Christopher Gregg
Publikováno v:
Cell Reports, Vol 42, Iss 1, Pp 111945- (2023)
Summary: Genes are typically assumed to express both parental alleles similarly, yet cell lines show random allelic expression (RAE) for many autosomal genes that could shape genetic effects. Thus, understanding RAE in human tissues could improve our
Externí odkaz:
https://doaj.org/article/7414b2bb9d974791a9b3a4454eb8bc00
Autor:
Brent S. Pedersen, Preetida J. Bhetariya, Joe Brown, Stephanie N. Kravitz, Gabor Marth, Randy L. Jensen, Mary P. Bronner, Hunter R. Underhill, Aaron R. Quinlan
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-9 (2020)
Abstract Background When interpreting sequencing data from multiple spatial or longitudinal biopsies, detecting sample mix-ups is essential, yet more difficult than in studies of germline variation. In most genomic studies of tumors, genetic variatio
Externí odkaz:
https://doaj.org/article/7318c11f0de746678b1a13cc3f314054
Autor:
Cornelia N. Stacher Hörndli, Jared Emery, Wei-Chao Huang, Elliott Ferris, Stephanie N Kravitz, Susan Steinwand, Paul J Bonthuis, Christopher Gregg
SUMMARYDopa decarboxylase (DDC) regulates the synthesis of monoaminergic neurotransmitters and is linked to psychiatric and metabolic disorders. Ddc exhibits complex genomic imprinting effects that have not been functionally studied. Here, we investi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::19274352089bdb7951cdf8aa94b96a0d
https://doi.org/10.1101/2020.06.23.168195
https://doi.org/10.1101/2020.06.23.168195
Autor:
Stephanie N Kravitz, Christopher Gregg
Publikováno v:
Curr Opin Neurobiol
Typically, it is assumed that the maternal and paternal alleles for most genes are equally expressed. Known exceptions include canonical imprinted genes, random X-chromosome inactivation, olfactory receptors and clustered protocadherins. Here, we hig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab61accc4a4e6270be211d8f063dd053
https://europepmc.org/articles/PMC7476552/
https://europepmc.org/articles/PMC7476552/
Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy
Autor:
Gilbert Bensimon, Ashley R. Jones, Bbbipps Study Groups, Giovanni Coppola, Alden Y. Huang, Andre Franke, Ammar Al-Chalabi, Nnipps, Philippe Amouyel, Wolfgang Lieb, Cathryn M. Lewis, Albert C. Ludolph, Zhongbo Chen, Aleksey Shatunov, Stephanie N Kravitz, Lauren Lawrence, Jeff M. Bronstein, P. Nigel Leigh, Christophe Tzourio, Panagiotis Deloukas, Jean-François Dartigues, Jason A. Chen, Christine Payan, Daniel H. Geschwind, Jennifer K. Lowe
Publikováno v:
Movement Disorders
Movement Disorders, Wiley, 2019, 34 (7), pp.1049-1059. ⟨10.1002/mds.27702⟩
Movement Disorders, Wiley, 2019, 34 (7), pp.1049-1059. ⟨10.1002/mds.27702⟩
Author(s): Chen, Zhongbo; Chen, Jason A; Shatunov, Aleksey; Jones, Ashley R; Kravitz, Stephanie N; Huang, Alden Y; Lawrence, Lauren; Lowe, Jennifer K; Lewis, Cathryn M; Payan, Christine AM; Lieb, Wolfgang; Franke, Andre; Deloukas, Panagiotis; Amouyel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49936d0068bdba5a7a8bf03238580b28
http://hdl.handle.net/20.500.12278/7747
http://hdl.handle.net/20.500.12278/7747
Autor:
Stephen Sanders, Christina T. DyBuncio, Joris Andrieux, Daniel H. Geschwind, Virpi Leppa, Christa Lese Martin, Jennifer K. Lowe, Stephanie N Kravitz, Dominique Martin-Coignard, Rita M. Cantor, Cédric Le Caignec
Publikováno v:
American journal of human genetics, vol 99, iss 3
Rare mutations, including copy-number variants (CNVs), contribute significantly to autism spectrum disorder (ASD) risk. Although their importance has been established in families with only one affected child (simplex families), the contribution of bo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::393e7048c8a090ca944fae4177f1a7bc
https://doi.org/10.1016/j.ajhg.2016.06.036
https://doi.org/10.1016/j.ajhg.2016.06.036
Autor:
Brent S. Pedersen, Thomas A Sasani, Aaron R. Quinlan, Brian K. Lohman, Megan E Conway, Thomas J. Nicholas, Stephanie N Kravitz, Jonathan R Belyeu, James M Havrilla, Ryan M. Layer
Publikováno v:
GigaScience
SV-plaudit is a framework for rapidly curating structural variant (SVs) predictions. For each SV, we generate an image that visualizes the coverage and alignment signals from a set of samples. Images are uploaded to our cloud framework where users as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::747df26905441375e2720b5889f956d5
Autor:
Abby Oehler, Lefkos T. Middleton, Stanley B. Prusiner, David B. Berry, Joel C. Watts, Steve M. Gentleman, Daniel H. Geschwind, Lea T. Grinberg, Smita S. Patel, Jennifer K. Lowe, Kurt Giles, Daniel A. Mordes, David V. Glidden, Stephanie N Kravitz, Glenda M. Halliday, Ryan Rampersaud, Amanda L. Woerman
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, vol 112, iss 38
Prusiner, SB; Woerman, AL; Mordes, DA; Watts, JC; Rampersaud, R; Berry, DB; et al.(2015). Evidence for α-synuclein prions causing multiple system atrophy in humans with parkinsonism. Proceedings of the National Academy of Sciences of the United States of America, 112(38), E5308-E5317. doi: 10.1073/pnas.1514475112. UCSF: Retrieved from: http://www.escholarship.org/uc/item/02n7h183
E5317
E5308
Prusiner, SB; Woerman, AL; Mordes, DA; Watts, JC; Rampersaud, R; Berry, DB; et al.(2015). Evidence for α-synuclein prions causing multiple system atrophy in humans with parkinsonism. Proceedings of the National Academy of Sciences of the United States of America, 112(38), E5308-E5317. doi: 10.1073/pnas.1514475112. UCSF: Retrieved from: http://www.escholarship.org/uc/item/02n7h183
E5317
E5308
Prions are proteins that adopt alternative conformations that become self-propagating; the PrP(Sc) prion causes the rare human disorder Creutzfeldt-Jakob disease (CJD). We report here that multiple system atrophy (MSA) is caused by a different human
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fbebfb551ff50835597666eac5f2329
https://escholarship.org/uc/item/02n7h183
https://escholarship.org/uc/item/02n7h183