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Stormy J. Chamberlain, Ph.D. - Publications

Affiliations: 
2003 University of Florida, Gainesville, Gainesville, FL, United States 
Area:
Genetics, Pathology
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38 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Perez Y, Velmeshev D, Wang L, White M, Siebert C, Baltazar J, Dutton NG, Wang S, Haeussler M, Chamberlain S, Kriegstein A. Single cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism. Biorxiv : the Preprint Server For Biology. PMID 37790331 DOI: 10.1101/2023.09.22.559056  0.324
2023 Gilmore RB, Gorka D, Stoddard CE, Cotney JL, Chamberlain SJ. Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells. Biorxiv : the Preprint Server For Biology. PMID 37693591 DOI: 10.1101/2023.08.30.555563  0.357
2023 Elamin M, Dumarchey A, Stoddard C, Robinson TM, Cowie C, Gorka D, Chamberlain SJ, Levine ES. The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons. Stem Cell Reports. PMID 36898382 DOI: 10.1016/j.stemcr.2023.02.002  0.573
2021 Fink JJ, Schreiner JD, Bloom JE, James J, Baker DS, Robinson TM, Lieberman R, Loew LM, Chamberlain SJ, Levine ES. Hyperexcitable Phenotypes in Induced Pluripotent Stem Cell-Derived Neurons From Patients With 15q11-q13 Duplication Syndrome, a Genetic Form of Autism. Biological Psychiatry. PMID 34538422 DOI: 10.1016/j.biopsych.2021.07.018  0.56
2020 Perrino PA, Chamberlain SJ, Eigsti IM, Fitch RH. Communication-related assessments in an Angelman syndrome mouse model. Brain and Behavior. e01937. PMID 33151040 DOI: 10.1002/brb3.1937  0.681
2020 Langouët M, Gorka D, Orniacki C, Dupont-Thibert CM, Chung MS, Glatt-Deeley HR, Germain N, Crandall LJ, Cotney JL, Stoddard CE, Lalande M, Chamberlain SJ. Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons. Human Molecular Genetics. PMID 32977341 DOI: 10.1093/hmg/ddaa210  0.421
2020 Chung MS, Langouët M, Chamberlain SJ, Carmichael GG. Prader-Willi syndrome: reflections on seminal studies and future therapies. Open Biology. 10: 200195. PMID 32961075 DOI: 10.1098/rsob.200195  0.425
2020 Sirois CL, Bloom JE, Fink JJ, Gorka D, Keller S, Germain ND, Levine ES, Chamberlain SJ. Abundance and localization of human UBE3A protein isoforms. Human Molecular Genetics. PMID 32833011 DOI: 10.1093/Hmg/Ddaa191  0.576
2020 Keute M, Miller MT, Krishnan ML, Sadhwani A, Chamberlain S, Thibert RL, Tan WH, Bird LM, Hipp JF. Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment. Molecular Psychiatry. PMID 32792659 DOI: 10.1038/S41380-020-0858-6  0.395
2020 Germain ND, Levine ES, Chamberlain SJ. IPSC Models of Chromosome 15Q Imprinting Disorders: From Disease Modeling to Therapeutic Strategies. Advances in Neurobiology. 25: 55-77. PMID 32578144 DOI: 10.1007/978-3-030-45493-7_3  0.611
2019 Frohlich J, Reiter LT, Saravanapandian V, DiStefano C, Huberty S, Hyde C, Chamberlain S, Bearden CE, Golshani P, Irimia A, Olsen RW, Hipp JF, Jeste SS. Mechanisms underlying the EEG biomarker in Dup15q syndrome. Molecular Autism. 10: 29. PMID 31312421 DOI: 10.1186/S13229-019-0280-6  0.45
2019 Hsiao JS, Germain ND, Wilderman A, Stoddard C, Wojenski LA, Villafano GJ, Core L, Cotney J, Chamberlain SJ. A bipartite boundary element restricts imprinting to mature neurons. Proceedings of the National Academy of Sciences of the United States of America. PMID 30674673 DOI: 10.1073/Pnas.1815279116  0.411
2019 Germain N, Sirois C, Fink J, Bloom J, Loew L, Levine E, Chamberlain S. CELLULAR PHENOTYPES OF ANGELMAN AND DUP15Q SYNDROME INDUCED PLURIPOTENT STEM CELL-DERIVED NEURONS European Neuropsychopharmacology. 29: S1060. DOI: 10.1016/J.Euroneuro.2018.07.081  0.538
2017 Kalsner L, Twachtman-Bassett J, Tokarski K, Stanley C, Dumont-Mathieu T, Cotney J, Chamberlain S. Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications. Molecular Genetics & Genomic Medicine. PMID 29271092 DOI: 10.1002/Mgg3.354  0.316
2017 Fink JJ, Robinson TM, Germain ND, Sirois CL, Bolduc KA, Ward AJ, Rigo F, Chamberlain SJ, Levine ES. Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells. Nature Communications. 8: 15038. PMID 28436452 DOI: 10.1038/Ncomms15038  0.567
2016 Urraca N, Potter B, Hundley R, Pivnick EK, McVicar K, Thibert RL, Ledbetter C, Chamberlain R, Miravalle L, Sirois CL, Chamberlain S, Reiter LT. A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism. Frontiers in Genetics. 7: 205. PMID 27933089 DOI: 10.3389/Fgene.2016.00205  0.36
2016 Smith OK, Kim R, Fu H, Martin MM, Lin CM, Utani K, Zhang Y, Marks AB, Lalande M, Chamberlain S, Libbrecht MW, Bouhassira EE, Ryan MC, Noble WS, Aladjem MI. Distinct epigenetic features of differentiation-regulated replication origins. Epigenetics & Chromatin. 9: 18. PMID 27168766 DOI: 10.1186/S13072-016-0067-3  0.33
2016 Chen PF, Hsiao JS, Sirois CL, Chamberlain SJ. RBFOX1 and RBFOX2 are dispensable in iPSCs and iPSC-derived neurons and do not contribute to neural-specific paternal UBE3A silencing. Scientific Reports. 6: 25368. PMID 27146458 DOI: 10.1038/Srep25368  0.408
2015 LaSalle JM, Reiter LT, Chamberlain SJ. Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders. Epigenomics. PMID 26585570 DOI: 10.2217/Epi.15.70  0.436
2015 Kalsner L, Chamberlain SJ. Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes. Pediatric Clinics of North America. 62: 587-606. PMID 26022164 DOI: 10.1016/J.Pcl.2015.03.004  0.441
2014 Germain ND, Chen PF, Plocik AM, Glatt-Deeley H, Brown J, Fink JJ, Bolduc KA, Robinson TM, Levine ES, Reiter LT, Graveley BR, Lalande M, Chamberlain SJ. Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1. Molecular Autism. 5: 44. PMID 25694803 DOI: 10.1186/2040-2392-5-44  0.597
2014 Chamberlain SJ, Germain ND, Chen PF, Hsiao JS, Glatt-Deeley H. Modeling Genomic Imprinting Disorders Using Induced Pluripotent Stem Cells. Methods in Molecular Biology (Clifton, N.J.). PMID 25520291 DOI: 10.1007/7651_2014_169  0.444
2014 Cruvinel E, Budinetz T, Germain N, Chamberlain S, Lalande M, Martins-Taylor K. Reactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCs. Human Molecular Genetics. 23: 4674-85. PMID 24760766 DOI: 10.1093/Hmg/Ddu187  0.448
2014 Martins-Taylor K, Hsiao JS, Chen PF, Glatt-Deeley H, De Smith AJ, Blakemore AI, Lalande M, Chamberlain SJ. Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion. Human Molecular Genetics. 23: 2364-73. PMID 24363065 DOI: 10.1093/Hmg/Ddt628  0.52
2013 King IF, Yandava CN, Mabb AM, Hsiao JS, Huang HS, Pearson BL, Calabrese JM, Starmer J, Parker JS, Magnuson T, Chamberlain SJ, Philpot BD, Zylka MJ. Topoisomerases facilitate transcription of long genes linked to autism. Nature. 501: 58-62. PMID 23995680 DOI: 10.1038/Nature12504  0.441
2013 Wang T, Wu H, Li Y, Szulwach KE, Lin L, Li X, Chen IP, Goldlust IS, Chamberlain SJ, Dodd A, Gong H, Ananiev G, Han JW, Yoon YS, Rudd MK, et al. Subtelomeric hotspots of aberrant 5-hydroxymethylcytosine-mediated epigenetic modifications during reprogramming to pluripotency. Nature Cell Biology. 15: 700-11. PMID 23685628 DOI: 10.1038/Ncb2748  0.331
2013 Chamberlain SJ. RNAs of the human chromosome 15q11-q13 imprinted region. Wiley Interdisciplinary Reviews. Rna. 4: 155-66. PMID 23208756 DOI: 10.1002/Wrna.1150  0.373
2011 Smith EY, Futtner CR, Chamberlain SJ, Johnstone KA, Resnick JL. Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus. Plos Genetics. 7: e1002422. PMID 22242001 DOI: 10.1371/Journal.Pgen.1002422  0.692
2011 Leung KN, Chamberlain SJ, Lalande M, LaSalle JM. Neuronal chromatin dynamics of imprinting in development and disease. Journal of Cellular Biochemistry. 112: 365-73. PMID 21268055 DOI: 10.1002/Jcb.22958  0.415
2010 Chamberlain SJ, Chen PF, Ng KY, Bourgois-Rocha F, Lemtiri-Chlieh F, Levine ES, Lalande M. Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes. Proceedings of the National Academy of Sciences of the United States of America. 107: 17668-73. PMID 20876107 DOI: 10.1073/Pnas.1004487107  0.6
2010 Chamberlain SJ, Lalande M. Angelman syndrome, a genomic imprinting disorder of the brain. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 30: 9958-63. PMID 20668179 DOI: 10.1523/Jneurosci.1728-10.2010  0.353
2010 Chamberlain SJ, Lalande M. Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11-q13. Neurobiology of Disease. 39: 13-20. PMID 20304067 DOI: 10.1016/J.Nbd.2010.03.011  0.46
2008 Chamberlain SJ, Li XJ, Lalande M. Induced pluripotent stem (iPS) cells as in vitro models of human neurogenetic disorders. Neurogenetics. 9: 227-35. PMID 18791750 DOI: 10.1007/S10048-008-0147-Z  0.342
2008 Sanz LA, Chamberlain S, Sabourin JC, Henckel A, Magnuson T, Hugnot JP, Feil R, Arnaud P. A mono-allelic bivalent chromatin domain controls tissue-specific imprinting at Grb10 Embo Journal. 27: 2523-2532. PMID 18650936 DOI: 10.1038/Emboj.2008.142  0.415
2008 Chamberlain SJ, Yee D, Magnuson T. Polycomb repressive complex 2 is dispensable for maintenance of embryonic stem cell pluripotency Stem Cells. 26: 1496-1505. PMID 18403752 DOI: 10.1634/Stemcells.2008-0102  0.325
2004 Chamberlain SJ, Johnstone KA, DuBose AJ, Simon TA, Bartolomei MS, Resnick JL, Brannan CI. Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice. Human Molecular Genetics. 13: 2971-7. PMID 15459179 DOI: 10.1093/Hmg/Ddh314  0.66
2001 Chamberlain SJ, Brannan CI. The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a. Genomics. 73: 316-22. PMID 11350123 DOI: 10.1006/Geno.2001.6543  0.536
2000 Lee S, Kozlov S, Hernandez L, Chamberlain SJ, Brannan CI, Stewart CL, Wevrick R. Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype. Human Molecular Genetics. 9: 1813-9. PMID 10915770 DOI: 10.1093/Hmg/9.12.1813  0.475
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