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Results: 1 to 20 of 126

1.

The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile.

Rashidi-Nezhad A, Talebi S, Saebnouri H, Akrami SM, Reymond A.

BMC Med Genet. 2014 Jul 1;15(1):75. [Epub ahead of print]

PMID:
24986124
[PubMed - as supplied by publisher]
Free Article
2.

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.

Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; The 16p11.2 European Consortium, Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; The EPICURE Consortium, The EuroEPINOMICS Consortium, Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA.

Hum Mol Genet. 2014 Jun 16. pii: ddu306. [Epub ahead of print]

PMID:
24939913
[PubMed - as supplied by publisher]
3.

Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures.

Giannuzzi G, Migliavacca E, Reymond A.

Genome Res. 2014 Jun 10. pii: gr.167742.113. [Epub ahead of print]

PMID:
24916972
[PubMed - as supplied by publisher]
4.

TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.

Alfaiz AA, Micale L, Mandriani B, Augello B, Pellico MT, Chrast J, Xenarios I, Zelante L, Merla G, Reymond A.

Hum Mutat. 2014 Apr;35(4):447-51. doi: 10.1002/humu.22529.

PMID:
24515783
[PubMed - in process]
5.

Structural variation-associated expression changes are paralleled by chromatin architecture modifications.

Gheldof N, Witwicki RM, Migliavacca E, Leleu M, Didelot G, Harewood L, Rougemont J, Reymond A.

PLoS One. 2013 Nov 12;8(11):e79973. doi: 10.1371/journal.pone.0079973. eCollection 2013.

PMID:
24265791
[PubMed - in process]
Free PMC Article
6.

Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data.

Waszak SM, Kilpinen H, Gschwind AR, Orioli A, Raghav SK, Witwicki RM, Migliavacca E, Yurovsky A, Lappalainen T, Hernandez N, Reymond A, Dermitzakis ET, Deplancke B.

Bioinformatics. 2014 Jan 15;30(2):165-71. doi: 10.1093/bioinformatics/btt667. Epub 2013 Nov 18.

PMID:
24255646
[PubMed - indexed for MEDLINE]
7.

Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription.

Kilpinen H, Waszak SM, Gschwind AR, Raghav SK, Witwicki RM, Orioli A, Migliavacca E, Wiederkehr M, Gutierrez-Arcelus M, Panousis NI, Yurovsky A, Lappalainen T, Romano-Palumbo L, Planchon A, Bielser D, Bryois J, Padioleau I, Udin G, Thurnheer S, Hacker D, Core LJ, Lis JT, Hernandez N, Reymond A, Deplancke B, Dermitzakis ET.

Science. 2013 Nov 8;342(6159):744-7. doi: 10.1126/science.1242463. Epub 2013 Oct 17.

PMID:
24136355
[PubMed - indexed for MEDLINE]
8.

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A.

Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26.

PMID:
23320472
[PubMed - in process]
9.

A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafish.

Micale L, Loviglio MN, Manzoni M, Fusco C, Augello B, Migliavacca E, Cotugno G, Monti E, Borsani G, Reymond A, Merla G.

PLoS One. 2012;7(10):e46642. doi: 10.1371/journal.pone.0046642. Epub 2012 Oct 31.

PMID:
23118857
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium; 16p11.2 European Consortium.

J Med Genet. 2012 Oct;49(10):660-8. doi: 10.1136/jmedgenet-2012-101203.

PMID:
23054248
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

GENCODE: the reference human genome annotation for The ENCODE Project.

Harrow J, Frankish A, Gonzalez JM, Tapanari E, Diekhans M, Kokocinski F, Aken BL, Barrell D, Zadissa A, Searle S, Barnes I, Bignell A, Boychenko V, Hunt T, Kay M, Mukherjee G, Rajan J, Despacio-Reyes G, Saunders G, Steward C, Harte R, Lin M, Howald C, Tanzer A, Derrien T, Chrast J, Walters N, Balasubramanian S, Pei B, Tress M, Rodriguez JM, Ezkurdia I, van Baren J, Brent M, Haussler D, Kellis M, Valencia A, Reymond A, Gerstein M, Guigó R, Hubbard TJ.

Genome Res. 2012 Sep;22(9):1760-74. doi: 10.1101/gr.135350.111.

PMID:
22955987
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome.

Howald C, Tanzer A, Chrast J, Kokocinski F, Derrien T, Walters N, Gonzalez JM, Frankish A, Aken BL, Hourlier T, Vogel JH, White S, Searle S, Harrow J, Hubbard TJ, Guigó R, Reymond A.

Genome Res. 2012 Sep;22(9):1698-710. doi: 10.1101/gr.134478.111.

PMID:
22955982
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Landscape of transcription in human cells.

Djebali S, Davis CA, Merkel A, Dobin A, Lassmann T, Mortazavi A, Tanzer A, Lagarde J, Lin W, Schlesinger F, Xue C, Marinov GK, Khatun J, Williams BA, Zaleski C, Rozowsky J, Röder M, Kokocinski F, Abdelhamid RF, Alioto T, Antoshechkin I, Baer MT, Bar NS, Batut P, Bell K, Bell I, Chakrabortty S, Chen X, Chrast J, Curado J, Derrien T, Drenkow J, Dumais E, Dumais J, Duttagupta R, Falconnet E, Fastuca M, Fejes-Toth K, Ferreira P, Foissac S, Fullwood MJ, Gao H, Gonzalez D, Gordon A, Gunawardena H, Howald C, Jha S, Johnson R, Kapranov P, King B, Kingswood C, Luo OJ, Park E, Persaud K, Preall JB, Ribeca P, Risk B, Robyr D, Sammeth M, Schaffer L, See LH, Shahab A, Skancke J, Suzuki AM, Takahashi H, Tilgner H, Trout D, Walters N, Wang H, Wrobel J, Yu Y, Ruan X, Hayashizaki Y, Harrow J, Gerstein M, Hubbard T, Reymond A, Antonarakis SE, Hannon G, Giddings MC, Ruan Y, Wold B, Carninci P, Guigó R, Gingeras TR.

Nature. 2012 Sep 6;489(7414):101-8. doi: 10.1038/nature11233.

PMID:
22955620
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

The GENCODE pseudogene resource.

Pei B, Sisu C, Frankish A, Howald C, Habegger L, Mu XJ, Harte R, Balasubramanian S, Tanzer A, Diekhans M, Reymond A, Hubbard TJ, Harrow J, Gerstein MB.

Genome Biol. 2012 Sep 26;13(9):R51. doi: 10.1186/gb-2012-13-9-r51.

PMID:
22951037
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresome.

Fusco C, Micale L, Egorov M, Monti M, D'Addetta EV, Augello B, Cozzolino F, Calcagnì A, Fontana A, Polishchuk RS, Didelot G, Reymond A, Pucci P, Merla G.

PLoS One. 2012;7(7):e40440. doi: 10.1371/journal.pone.0040440. Epub 2012 Jul 9.

PMID:
22792322
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Multifocal epithelial tumors and field cancerization from loss of mesenchymal CSL signaling.

Hu B, Castillo E, Harewood L, Ostano P, Reymond A, Dummer R, Raffoul W, Hoetzenecker W, Hofbauer GF, Dotto GP.

Cell. 2012 Jun 8;149(6):1207-20. doi: 10.1016/j.cell.2012.03.048.

PMID:
22682244
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.

Golzio C, Willer J, Talkowski ME, Oh EC, Taniguchi Y, Jacquemont S, Reymond A, Sun M, Sawa A, Gusella JF, Kamiya A, Beckmann JS, Katsanis N.

Nature. 2012 May 16;485(7398):363-7. doi: 10.1038/nature11091.

PMID:
22596160
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay.

Rashidi-Nezhad A, Parvaneh N, Farzanfar F, Azimi C, Harewood L, Akrami SM, Reymond A.

Eur J Med Genet. 2012 Mar;55(3):203-10. doi: 10.1016/j.ejmg.2012.01.012. Epub 2012 Feb 4.

PMID:
22370062
[PubMed - indexed for MEDLINE]
19.

Evidence for transcript networks composed of chimeric RNAs in human cells.

Djebali S, Lagarde J, Kapranov P, Lacroix V, Borel C, Mudge JM, Howald C, Foissac S, Ucla C, Chrast J, Ribeca P, Martin D, Murray RR, Yang X, Ghamsari L, Lin C, Bell I, Dumais E, Drenkow J, Tress ML, Gelpí JL, Orozco M, Valencia A, van Berkum NL, Lajoie BR, Vidal M, Stamatoyannopoulos J, Batut P, Dobin A, Harrow J, Hubbard T, Dekker J, Frankish A, Salehi-Ashtiani K, Reymond A, Antonarakis SE, Guigó R, Gingeras TR.

PLoS One. 2012;7(1):e28213. doi: 10.1371/journal.pone.0028213. Epub 2012 Jan 4.

PMID:
22238572
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Structural variation and its effect on expression.

Harewood L, Chaignat E, Reymond A.

Methods Mol Biol. 2012;838:173-86. doi: 10.1007/978-1-61779-507-7_8.

PMID:
22228012
[PubMed - indexed for MEDLINE]

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