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Page 1
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE. Sharp AJ, et al. Among authors: eis ps. Nat Genet. 2006 Sep;38(9):1038-42. doi: 10.1038/ng1862. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906162
A high-resolution map of segmental DNA copy number variation in the mouse genome.
Graubert TA, Cahan P, Edwin D, Selzer RR, Richmond TA, Eis PS, Shannon WD, Li X, McLeod HL, Cheverud JM, Ley TJ. Graubert TA, et al. Among authors: eis ps. PLoS Genet. 2007 Jan 5;3(1):e3. doi: 10.1371/journal.pgen.0030003. Epub 2006 Nov 22. PLoS Genet. 2007. PMID: 17206864 Free PMC article.
Characterization of a recurrent 15q24 microdeletion syndrome.
Sharp AJ, Selzer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJ, de Vries BB, Zuffardi O, Eichler EE. Sharp AJ, et al. Among authors: eis ps. Hum Mol Genet. 2007 Mar 1;16(5):567-72. doi: 10.1093/hmg/ddm016. Epub 2007 Mar 14. Hum Mol Genet. 2007. PMID: 17360722
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, Jackson KE, Asamoah A, Brock PL, Gowans GC, Conway RL, Graham JM Jr, Medne L, Zackai EH, Shaikh TH, Geoghegan J, Selzer RR, Eis PS, Bejjani BA, Shaffer LG. Ballif BC, et al. Among authors: eis ps. Nat Genet. 2007 Sep;39(9):1071-3. doi: 10.1038/ng2107. Epub 2007 Aug 19. Nat Genet. 2007. PMID: 17704777
Acquired copy number alterations in adult acute myeloid leukemia genomes.
Walter MJ, Payton JE, Ries RE, Shannon WD, Deshmukh H, Zhao Y, Baty J, Heath S, Westervelt P, Watson MA, Tomasson MH, Nagarajan R, O'Gara BP, Bloomfield CD, Mrózek K, Selzer RR, Richmond TA, Kitzman J, Geoghegan J, Eis PS, Maupin R, Fulton RS, McLellan M, Wilson RK, Mardis ER, Link DC, Graubert TA, DiPersio JF, Ley TJ. Walter MJ, et al. Among authors: eis ps. Proc Natl Acad Sci U S A. 2009 Aug 4;106(31):12950-5. doi: 10.1073/pnas.0903091106. Epub 2009 Jul 27. Proc Natl Acad Sci U S A. 2009. PMID: 19651600 Free PMC article.
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Tropeano M, Howley D, Gazzellone MJ, Wilson CE, Ahn JW, Stavropoulos DJ, Murphy CM, Eis PS, Hatchwell E, Dobson RJ, Robertson D, Holder M, Irving M, Josifova D, Nehammer A, Ryten M, Spain D, Pitts M, Bramham J, Asherson P, Curran S, Vassos E, Breen G, Flinter F, Ogilvie CM, Collier DA, Scherer SW, McAlonan GM, Murphy DG. Tropeano M, et al. Among authors: eis ps. J Med Genet. 2016 Aug;53(8):536-47. doi: 10.1136/jmedgenet-2015-103621. Epub 2016 Apr 12. J Med Genet. 2016. PMID: 27073233
Germline Genetic Risk Variants for Progressive Multifocal Leukoencephalopathy.
Eis PS, Bruno CD, Richmond TA, Koralnik IJ, Hanson BA, Major EO, Chow CR, Hendel-Chavez H, Stankoff B, Gasnault J, Taoufik Y, Hatchwell E. Eis PS, et al. Front Neurol. 2020 Mar 17;11:186. doi: 10.3389/fneur.2020.00186. eCollection 2020. Front Neurol. 2020. PMID: 32256442 Free PMC article.
Progressive multifocal leukoencephalopathy genetic risk variants for pharmacovigilance of immunosuppressant therapies.
Hatchwell E, Smith EB 3rd, Jalilzadeh S, Bruno CD, Taoufik Y, Hendel-Chavez H, Liblau R, Brassat D, Martin-Blondel G, Wiendl H, Schwab N, Cortese I, Monaco MC, Imberti L, Capra R, Oksenberg JR, Gasnault J, Stankoff B, Richmond TA, Rancour DM, Koralnik IJ, Hanson BA, Major EO, Chow CR, Eis PS. Hatchwell E, et al. Among authors: eis ps. Front Neurol. 2022 Dec 14;13:1016377. doi: 10.3389/fneur.2022.1016377. eCollection 2022. Front Neurol. 2022. PMID: 36588876 Free PMC article.
35 results