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Page 1
No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients.
Guipponi M, Santoni F, Schneider M, Gehrig C, Bustillo XB, Kates WR, Morrow B, Armando M, Vicari S, Sloan-Béna F, Gagnebin M, Shashi V, Hooper SR, Eliez S, Antonarakis SE. Guipponi M, et al. Among authors: gagnebin m. Transl Psychiatry. 2017 Feb 21;7(2):e1039. doi: 10.1038/tp.2016.258. Transl Psychiatry. 2017. PMID: 28221368 Free PMC article.
Corrigendum: Domains of genome-wide gene expression dysregulation in Down's syndrome.
Letourneau A, Santoni FA, Bonilla X, Sailani MR, Gonzalez D, Kind J, Chevalier C, Thurman R, Sandstrom RS, Hibaoui Y, Garieri M, Popadin K, Falconnet E, Gagnebin M, Gehrig C, Vannier A, Guipponi M, Farinelli L, Robyr D, Migliavacca E, Borel C, Deutsch S, Feki A, Stamatoyannopoulos JA, Herault Y, van Steensel B, Guigo R, Antonarakis SE. Letourneau A, et al. Among authors: gagnebin m. Nature. 2016 Mar 17;531(7594):400. doi: 10.1038/nature16135. Epub 2015 Dec 2. Nature. 2016. PMID: 26633627 No abstract available.
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing.
Gutierrez-Arcelus M, Ongen H, Lappalainen T, Montgomery SB, Buil A, Yurovsky A, Bryois J, Padioleau I, Romano L, Planchon A, Falconnet E, Bielser D, Gagnebin M, Giger T, Borel C, Letourneau A, Makrythanasis P, Guipponi M, Gehrig C, Antonarakis SE, Dermitzakis ET. Gutierrez-Arcelus M, et al. Among authors: gagnebin m. PLoS Genet. 2015 Jan 29;11(1):e1004958. doi: 10.1371/journal.pgen.1004958. eCollection 2015 Jan. PLoS Genet. 2015. PMID: 25634236 Free PMC article.
Domains of genome-wide gene expression dysregulation in Down's syndrome.
Letourneau A, Santoni FA, Bonilla X, Sailani MR, Gonzalez D, Kind J, Chevalier C, Thurman R, Sandstrom RS, Hibaoui Y, Garieri M, Popadin K, Falconnet E, Gagnebin M, Gehrig C, Vannier A, Guipponi M, Farinelli L, Robyr D, Migliavacca E, Borel C, Deutsch S, Feki A, Stamatoyannopoulos JA, Herault Y, van Steensel B, Guigo R, Antonarakis SE. Letourneau A, et al. Among authors: gagnebin m. Nature. 2014 Apr 17;508(7496):345-50. doi: 10.1038/nature13200. Nature. 2014. PMID: 24740065
Passive and active DNA methylation and the interplay with genetic variation in gene regulation.
Gutierrez-Arcelus M, Lappalainen T, Montgomery SB, Buil A, Ongen H, Yurovsky A, Bryois J, Giger T, Romano L, Planchon A, Falconnet E, Bielser D, Gagnebin M, Padioleau I, Borel C, Letourneau A, Makrythanasis P, Guipponi M, Gehrig C, Antonarakis SE, Dermitzakis ET. Gutierrez-Arcelus M, et al. Among authors: gagnebin m. Elife. 2013 Jun 4;2:e00523. doi: 10.7554/eLife.00523. Elife. 2013. PMID: 23755361 Free PMC article.
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Béna F, Bruno DL, Eriksson M, van Ravenswaaij-Arts C, Stark Z, Dijkhuizen T, Gerkes E, Gimelli S, Ganesamoorthy D, Thuresson AC, Labalme A, Till M, Bilan F, Pasquier L, Kitzis A, Dubourgm C, Rossi M, Bottani A, Gagnebin M, Sanlaville D, Gilbert-Dussardier B, Guipponi M, van Haeringen A, Kriek M, Ruivenkamp C, Antonarakis SE, Anderlid BM, Slater HR, Schoumans J. Béna F, et al. Among authors: gagnebin m. Am J Med Genet B Neuropsychiatr Genet. 2013 Jun;162B(4):388-403. doi: 10.1002/ajmg.b.32148. Epub 2013 Mar 26. Am J Med Genet B Neuropsychiatr Genet. 2013. PMID: 23533028 Review.
Extensive natural variation for cellular hydrogen peroxide release is genetically controlled.
Attar H, Bedard K, Migliavacca E, Gagnebin M, Dupré Y, Descombes P, Borel C, Deutsch S, Prokisch H, Meitinger T, Mehta D, Wichmann E, Delabar JM, Dermitzakis ET, Krause KH, Antonarakis SE. Attar H, et al. Among authors: gagnebin m. PLoS One. 2012;7(8):e43566. doi: 10.1371/journal.pone.0043566. Epub 2012 Aug 29. PLoS One. 2012. PMID: 22952707 Free PMC article.
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele.
Radhakrishna U, Nath SK, McElreavey K, Ratnamala U, Sun C, Maiti AK, Gagnebin M, Béna F, Newkirk HL, Sharp AJ, Everman DB, Murray JC, Schwartz CE, Antonarakis SE, Butler MG. Radhakrishna U, et al. Among authors: gagnebin m. J Med Genet. 2012 Apr;49(4):270-6. doi: 10.1136/jmedgenet-2012-100826. J Med Genet. 2012. PMID: 22499347 Free PMC article.
18 results