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Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells.
Published in:
PLoS ONE, 2024, v. 19, n. 11, p. 1, doi. 10.1371/journal.pone.0311565
By:
- Gilmore, Rachel B.;
- Gorka, Dea;
- Stoddard, Christopher E.;
- Sonawane, Pooja;
- Cotney, Justin;
- Chamberlain, Stormy J.
Publication type:
Article
Polycomb Repressive Complex 2 Is Dispensable for Maintenance of Embryonic Stem Cell Pluripotency.
Published in:
Stem Cells, 2008, v. 26, n. 6, p. 1496, doi. 10.1634/stemcells.2008-0102
By:
- Chamberlain, Stormy J.;
- Yee, Della;
- Magnuson, Terry
Publication type:
Article
Communication‐related assessments in an Angelman syndrome mouse model.
Published in:
Brain & Behavior, 2021, v. 11, n. 1, p. 1, doi. 10.1002/brb3.1937
By:
- Perrino, Peter A.;
- Chamberlain, Stormy J.;
- Eigsti, Inge‐Marie;
- Fitch, Roslyn Holly
Publication type:
Article
RBFOX1 and RBFOX2 are dispensable in iPSCs and iPSC-derived neurons and do not contribute to neural-specific paternal UBE3A silencing.
Published in:
Scientific Reports, 2016, p. 25368, doi. 10.1038/srep25368
By:
- Chen, Pin-Fang;
- Hsiao, Jack S.;
- Sirois, Carissa L.;
- Chamberlain, Stormy J.
Publication type:
Article
A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism.
Published in:
Frontiers in Genetics, 2016, v. 7, p. 1, doi. 10.3389/fgene.2016.00205
By:
- Urraca, Nora;
- Potter, Brian;
- Hundley, Rachel;
- Pivnick, Eniko K.;
- McVicar, Kathryn;
- Thibert, Ronald L.;
- Ledbetter, Christopher;
- Chamberlain, Reed;
- Miravalle, Leticia;
- Sirois, Carissa L.;
- Chamberlain, Stormy;
- Reiter, Lawrence T.
Publication type:
Article
Angelman Syndrome, a Genomic Imprinting Disorder of the Brain.
Published in:
Journal of Neuroscience, 2010, v. 30, n. 30, p. 9958, doi. 10.1523/JNEUROSCI.1728-10.2010
By:
- Chamberlain, Stormy J.;
- Lalande, Marc
Publication type:
Article
A mono-allelic bivalent chromatin domain controls tissue-specific imprinting at Grb10.
Published in:
EMBO Journal, 2008, v. 27, n. 19, p. 2523, doi. 10.1038/emboj.2008.142
By:
- Sanz, Lionel A.;
- Chamberlain, Stormy;
- Sabourin, Jean-Charles;
- Henckel, Amandine;
- Magnuson, Terry;
- Hugnot, Jean-Philippe;
- Feil, Robert;
- Arnaud, Philippe
Publication type:
Article
Monoallelically expressed noncoding RNAs form nucleolar territories on NOR-containing chromosomes and regulate rRNA expression.
Published in:
eLife, 2024, p. 1, doi. 10.7554/eLife.80684
By:
- Qinyu Hao;
- Minxue Liu;
- Daulatabad, Swapna Vidhur;
- Gaffari, Saba;
- You Jin Song;
- Srivastava, Rajneesh;
- Bhaskar, Shivang;
- Moitra, Anurupa;
- Mangan, Hazel;
- Tseng, Elizabeth;
- Gilmore, Rachel B.;
- Frier, Susan M.;
- Xin Chen;
- Chengliang Wang;
- Sui Huang;
- Chamberlain, Stormy;
- Hong Jin;
- Korlach, Jonas;
- McStay, Brian;
- Sinha, Saurabh
Publication type:
Article
Subtelomeric hotspots of aberrant 5-hydroxymethylcytosine-mediated epigenetic modifications during reprogramming to pluripotency.
Published in:
Nature Cell Biology, 2013, v. 15, n. 6, p. 700, doi. 10.1038/ncb2748
By:
- Wang, Tao;
- Wu, Hao;
- Li, Yujing;
- Szulwach, Keith E.;
- Lin, Li;
- Li, Xuekun;
- Chen, I-Ping;
- Goldlust, Ian S.;
- Chamberlain, Stormy J.;
- Dodd, Ann;
- Gong, He;
- Ananiev, Gene;
- Han, Ji Woong;
- Yoon, Young-sup;
- Katharine Rudd, M.;
- Yu, Miao;
- Song, Chun-Xiao;
- He, Chuan;
- Chang, Qiang;
- Warren, Stephen T.
Publication type:
Article
Distinct epigenetic features of differentiation-regulated replication origins.
Published in:
Epigenetics & Chromatin, 2016, v. 9, p. 1, doi. 10.1186/s13072-016-0067-3
By:
- Smith, Owen K.;
- Kim, RyanGuk;
- Haiqing Fu;
- Martin, Melvenia M.;
- Chii Mei Lin;
- Utani, Koichi;
- Ya Zhan;
- Marks, Anna B.;
- Lalande, Marc;
- Chamberlain, Stormy;
- Libbrecht, Maxwell W.;
- Bouhassira, Eric E.;
- Ryan, Michael C.;
- Noble, William S.;
- Aladjem, Mirit I.
Publication type:
Article
Neuronal chromatin dynamics of imprinting in development and disease.
Published in:
Journal of Cellular Biochemistry, 2011, v. 112, n. 2, p. 365, doi. 10.1002/jcb.22958
By:
- Leung, Karen N.;
- Chamberlain, Stormy J.;
- Lalande, Marc;
- LaSalle, Janine M.
Publication type:
Article
Dsl1p, an Essential Protein Required for Membrane Traffic at the Endoplasmic Reticulum:Golgi Interface in Yeast.
Published in:
Traffic, 2001, v. 2, n. 3, p. 212, doi. 10.1034/j.1600-0854.2001.020307.x
By:
- VanRheenen, Susan M.;
- Reilly, Barbara A.;
- Chamberlain, Stormy J.;
- Waters, M. Gerard
Publication type:
Article
Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells.
Published in:
Nature Communications, 2017, v. 8, n. 4, p. 15038, doi. 10.1038/ncomms15038
By:
- Fink, James J.;
- Robinson, Tiwanna M.;
- Germain, Noelle D.;
- Sirois, Carissa L.;
- Bolduc, Kaitlyn A.;
- Ward, Amanda J.;
- Rigo, Frank;
- Chamberlain, Stormy J.;
- Levine, Eric S.
Publication type:
Article
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Published in:
Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 2, p. 171, doi. 10.1002/mgg3.354
By:
- Kalsner, Louisa;
- Twachtman‐Bassett, Jennifer;
- Tokarski, Kristin;
- Stanley, Christine;
- Dumont‐Mathieu, Thyde;
- Cotney, Justin;
- Chamberlain, Stormy
Publication type:
Article
Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 19, p. 3285, doi. 10.1093/hmg/ddaa210
By:
- Langouët, Maéva;
- Gorka, Dea;
- Orniacki, Clarisse;
- Dupont-Thibert, Clémence M.;
- Chung, Michael S.;
- Glatt-Deeley, Heather R.;
- Germain, Noelle;
- Crandall, Leann J.;
- Cotney, Justin L.;
- Stoddard, Christopher E.;
- Lalande, Marc;
- Chamberlain, Stormy J.
Publication type:
Article
Abundance and localization of human UBE3A protein isoforms.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 18, p. 3021, doi. 10.1093/hmg/ddaa191
By:
- Sirois, Carissa L;
- Bloom, Judy E;
- Fink, James J;
- Gorka, Dea;
- Keller, Steffen;
- Germain, Noelle D;
- Levine, Eric S;
- Chamberlain, Stormy J
Publication type:
Article
Disease modelling using human iPSCs.
Published in:
Human Molecular Genetics, 2016, v. 25, n. R2, p. R173, doi. 10.1093/hmg/ddw209
By:
- Chamberlain, Stormy J.
Publication type:
Article
Reactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCs.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 17, p. 4674, doi. 10.1093/hmg/ddu187
By:
- Cruvinel, Estela;
- Budinetz, Tara;
- Germain, Noelle;
- Chamberlain, Stormy;
- Lalande, Marc;
- Martins-Taylor, Kristen
Publication type:
Article
Imprinted expression of UBE3A in non-neuronal cells from a Prader–Willi syndrome patient with an atypical deletion.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 9, p. 2364, doi. 10.1093/hmg/ddt628
By:
- Martins-Taylor, Kristen;
- Hsiao, Jack S.;
- Chen, Pin-Fang;
- Glatt-Deeley, Heather;
- De Smith, Adam J.;
- Blakemore, Alexandra I.F.;
- Lalande, Marc;
- Chamberlain, Stormy J.
Publication type:
Article
Topoisomerases facilitate transcription of long genes linked to autism.
Published in:
Nature, 2013, v. 501, n. 7465, p. 58, doi. 10.1038/nature12504
By:
- King, Ian F.;
- Yandava, Chandri N.;
- Mabb, Angela M.;
- Hsiao, Jack S.;
- Huang, Hsien-Sung;
- Pearson, Brandon L.;
- Calabrese, J. Mauro;
- Starmer, Joshua;
- Parker, Joel S.;
- Magnuson, Terry;
- Chamberlain, Stormy J.;
- Philpot, Benjamin D.;
- Zylka, Mark J.
Publication type:
Article
Transcription Is Required to Establish Maternal Imprinting at the Prader-Willi Syndrome and Angelman Syndrome Locus.
Published in:
PLoS Genetics, 2011, v. 7, n. 12, p. 1, doi. 10.1371/journal.pgen.1002422
By:
- Smith, Emily Y.;
- Futtner, Christopher R.;
- Chamberlain, Stormy J.;
- Johnstone, Karen A.;
- Resnick, James L.
Publication type:
Article
Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice.
Published in:
Human Molecular Genetics, 2004, v. 13, n. 23, p. 2971, doi. 10.1093/hmg/ddh314
By:
- Chamberlain, Stormy J.;
- Johnstone, Karen A.;
- DuBose, Amanda J.;
- Simon, Thomas A.;
- Bartolomei, Marisa S.;
- Resnick, James L.;
- Brannan, Camilynn I.
Publication type:
Article
Ube3a unsilencer for the potential treatment of Angelman syndrome.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49788-8
By:
- Vihma, Hanna;
- Li, Kelin;
- Welton-Arndt, Anna;
- Smith, Audrey L.;
- Bettadapur, Kiran R.;
- Gilmore, Rachel B.;
- Gao, Eric;
- Cotney, Justin L.;
- Huang, Hsueh-Cheng;
- Collins, Jon L.;
- Chamberlain, Stormy J.;
- Lee, Hyeong-Min;
- Aubé, Jeffrey;
- Philpot, Benjamin D.
Publication type:
Article
Comment on 'Do repeated arrays of box C/D small nucleolar RNA and microRNA genes elicit genomic imprinting?' DOI 10.1002/bies201100032.
Published in:
BioEssays, 2011, v. 33, n. 8, p. 563, doi. 10.1002/bies.201100081
By:
- Chamberlain, Stormy J.
Publication type:
Article
Correction to: Mechanisms underlying the EEG biomarker in Dup15q syndrome.
Published in:
2019
By:
- Frohlich, Joel;
- Reiter, Lawrence T.;
- Saravanapandian, Vidya;
- DiStefano, Charlotte;
- Huberty, Scott;
- Hyde, Carly;
- Chamberlain, Stormy;
- Bearden, Carrie E.;
- Golshani, Peyman;
- Irimia, Andrei;
- Olsen, Richard W.;
- Hipp, Joerg F.;
- Jeste, Shafali S.
Publication type:
Correction Notice
Mechanisms underlying the EEG biomarker in Dup15q syndrome.
Published in:
Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0280-6
By:
- Frohlich, Joel;
- Reiter, Lawrence T.;
- Saravanapandian, Vidya;
- DiStefano, Charlotte;
- Huberty, Scott;
- Hyde, Carly;
- Chamberlain, Stormy;
- Bearden, Carrie E.;
- Golshani, Peyman;
- Irimia, Andrei;
- Olsen, Richard W.;
- Hipp, Joerg F.;
- Jeste, Shafali S.
Publication type:
Article
Induced pluripotent stem (iPS) cells as in vitro models of human neurogenetic disorders.
Published in:
Neurogenetics, 2008, v. 9, n. 4, p. 227, doi. 10.1007/s10048-008-0147-z
By:
- Chamberlain, Stormy;
- Li, Xue-Jun;
- Lalande, Marc
Publication type:
Article
RNAs of the human chromosome 15q11-q13 imprinted region.
Published in:
Wiley Interdisciplinary Reviews: RNA, 2013, v. 4, n. 2, p. 155, doi. 10.1002/wrna.1150
By:
- Chamberlain, Stormy J.
Publication type:
Article

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