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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 3
2003 2
2004 2
2005 1
2006 1
2007 1
2008 2
2009 4
2010 6
2011 5
2012 7
2013 10
2014 12
2015 12
2016 4
2017 3
2018 5
2019 3
2020 4
2021 6
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Search Results

81 results
Results by year
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Page 1
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma.
Bonilla X, Parmentier L, King B, Bezrukov F, Kaya G, Zoete V, Seplyarskiy VB, Sharpe HJ, McKee T, Letourneau A, Ribaux PG, Popadin K, Basset-Seguin N, Ben Chaabene R, Santoni FA, Andrianova MA, Guipponi M, Garieri M, Verdan C, Grosdemange K, Sumara O, Eilers M, Aifantis I, Michielin O, de Sauvage FJ, Antonarakis SE, Nikolaev SI. Bonilla X, et al. Among authors: guipponi m. Nat Genet. 2016 Apr;48(4):398-406. doi: 10.1038/ng.3525. Epub 2016 Mar 7. Nat Genet. 2016. PMID: 26950094
A mega-analysis of genome-wide association studies for major depressive disorder.
Major Depressive Disorder Working Group of the Psychiatric GWAS Consortium, Ripke S, Wray NR, Lewis CM, Hamilton SP, Weissman MM, Breen G, Byrne EM, Blackwood DH, Boomsma DI, Cichon S, Heath AC, Holsboer F, Lucae S, Madden PA, Martin NG, McGuffin P, Muglia P, Noethen MM, Penninx BP, Pergadia ML, Potash JB, Rietschel M, Lin D, Müller-Myhsok B, Shi J, Steinberg S, Grabe HJ, Lichtenstein P, Magnusson P, Perlis RH, Preisig M, Smoller JW, Stefansson K, Uher R, Kutalik Z, Tansey KE, Teumer A, Viktorin A, Barnes MR, Bettecken T, Binder EB, Breuer R, Castro VM, Churchill SE, Coryell WH, Craddock N, Craig IW, Czamara D, De Geus EJ, Degenhardt F, Farmer AE, Fava M, Frank J, Gainer VS, Gallagher PJ, Gordon SD, Goryachev S, Gross M, Guipponi M, Henders AK, Herms S, Hickie IB, Hoefels S, Hoogendijk W, Hottenga JJ, Iosifescu DV, Ising M, Jones I, Jones L, Jung-Ying T, Knowles JA, Kohane IS, Kohli MA, Korszun A, Landen M, Lawson WB, Lewis G, Macintyre D, Maier W, Mattheisen M, McGrath PJ, McIntosh A, McLean A, Middeldorp CM, Middleton L, Montgomery GM, Murphy SN, Nauck M, Nolen WA, Nyholt DR, O'Donovan M, Oskarsson H, Pedersen N, Scheftner WA, Schulz A, Schulze TG, Shyn SI, Sigurdsson E, Slager SL, Smit JH, Stefansson H, Steffens M, Thorgeirsson T, Tozzi F, Treutlein J, Uhr M, van den Oord EJ, Van Grootheest G, Völzke H, Weilburg JB, Willemsen G, Zitman FG, Neale B, Daly M, Levinson DF, Sullivan PF. Major Depressive Disorder Working Group of the Psychiatric GWAS Consortium, et al. Among authors: guipponi m. Mol Psychiatry. 2013 Apr;18(4):497-511. doi: 10.1038/mp.2012.21. Epub 2012 Apr 3. Mol Psychiatry. 2013. PMID: 22472876 Free PMC article.
LARS2-Perrault syndrome: a new case report and literature review.
Carminho-Rodrigues MT, Klee P, Laurent S, Guipponi M, Abramowicz M, Cao-van H, Guinand N, Paoloni-Giacobino A. Carminho-Rodrigues MT, et al. Among authors: guipponi m. BMC Med Genet. 2020 May 18;21(1):109. doi: 10.1186/s12881-020-01028-8. BMC Med Genet. 2020. PMID: 32423379 Free PMC article. Review.
SCN8A heterozygous variants are associated with anoxic-epileptic seizures.
Ranza E, Z'Graggen W, Lidgren M, Beghetti M, Guipponi M, Antonarakis SE, Absoud M, Goyal S, Pal DK, Korff CM. Ranza E, et al. Among authors: guipponi m. Am J Med Genet A. 2020 May;182(5):1209-1216. doi: 10.1002/ajmg.a.61513. Epub 2020 Feb 10. Am J Med Genet A. 2020. PMID: 32040247
Next generation diagnostics on cardiomyopathy.
Blouin JL, Bevillard J, Makrythanasis P, Guipponi M, Santoni F, Antonarakis SE, Fokstuen S. Blouin JL, et al. Among authors: guipponi m. Mol Cytogenet. 2014 Jan 21;7(Suppl 1 Proceedings of the International Conference on Human):I4. doi: 10.1186/1755-8166-7-S1-I4. eCollection 2014. Mol Cytogenet. 2014. PMID: 24949098 Free PMC article. No abstract available.
Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance.
Stamoulis G, Garieri M, Makrythanasis P, Letourneau A, Guipponi M, Panousis N, Sloan-Béna F, Falconnet E, Ribaux P, Borel C, Santoni F, Antonarakis SE. Stamoulis G, et al. Among authors: guipponi m. Nat Commun. 2019 Oct 3;10(1):4495. doi: 10.1038/s41467-019-12273-8. Nat Commun. 2019. PMID: 31582743 Free PMC article.
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.
Ansar M, Chung HL, Taylor RL, Nazir A, Imtiaz S, Sarwar MT, Manousopoulou A, Makrythanasis P, Saeed S, Falconnet E, Guipponi M, Pournaras CJ, Ansari MA, Ranza E, Santoni FA, Ahmed J, Shah I, Gul K, Black GC, Bellen HJ, Antonarakis SE. Ansar M, et al. Among authors: guipponi m. Am J Hum Genet. 2018 Oct 4;103(4):568-578. doi: 10.1016/j.ajhg.2018.09.004. Am J Hum Genet. 2018. PMID: 30290152 Free PMC article.
81 results