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	Title	Authors / Editors	Date
unige:34328	Transcriptome and genome sequencing uncovers functional variation in humans	Lappalainen, Tuuli Emilia; Giger, Thomas; Padioleau, Ismael; Ongen, Halit; ... Dermitzakis, Emmanouil	2013
unige:37818	An integrated encyclopedia of DNA elements in the human genome	ENCODE Project Consortium	2012
unige:34643	Landscape of transcription in human cells	Djebali, Sarah; Davis, Carrie A	2012
unige:25383	A novel exon 3 mutation in a Tunisian patient with Lafora's disease	Khiari, H Mrabet; Lesca, G; Malafosse, Alain; Mrabet, A	2011
unige:45235	Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study	Ross, Owen A	2011
unige:21243	Marked hemiatrophy in carriers of Duchenne muscular dystrophy	Rajakulendran, Sanjeev; Kuntzer, Thierry; Dunand, Murielle; Yau, Shu C.; ... Hanna, Michael G.	2010
unige:19684	Human aldehyde dehydrogenase genes: alternatively spliced transcriptional variants and their suggested nomenclature	Black, William J.; Stagos, Dimitrios; Marchitti, Satori A.; Nebert, Daniel W.; ... Vasiliou, Vasilis	2009
unige:8999	A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream	Robert-Ebadi, Helia; De Moerloose, Philippe; El Khorassani, M.; El Khattab, M.; Neerman Arbez, Marguerite	2009
unige:9051	Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia	Tchou, Isabelle; Diepold, Myriam; Pilotto, P. A.; Swinkels, Dorine; ... Beris, Photis	2009
unige:2415	A new HLA-DR4 allele, DRB1*0474, with an unusual residue at position 77	Desaules, Claire-Anne; Villard, Jean; Tiercy, Jean-Marie	2008
unige:9143	Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project	Birney, Ewan	2007
unige:6796	ATAB2 is a novel factor in the signalling pathway of light-controlled synthesis of photosystem proteins	Barneche, Frédy; Winter, Veronika; Crèvecoeur, Michèle; Rochaix, Jean-David	2006
unige:9093	Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro	Wattenhofer, Marie; Reymond, Alexandre; Falciola, Veronique; Charollais, Anne; ... Antonarakis, Stylianos	2005
unige:8717	Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment	Dermitzakis, Emmanouil; Kirkness, Ewen; Schwarz, Scott; Birney, Ewan; ... Antonarakis, Stylianos	2004
unige:8887	Association of the connexin36 gene with juvenile myoclonic epilepsy	Mas, Christophe; Taske, N.; Deutsch, Samuel; Guipponi, Michel; ... Meda, Paolo	2004
unige:8618	Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA)	Attanasio, Catia; David, Armelle; Neerman Arbez, Marguerite	2003
unige:9079	Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion	Vu, Dung; Bolton-Maggs, P. H.; Parr, J. R.; Morris, Michael Andréw; ... Neerman Arbez, Marguerite	2003
unige:9092	Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients	Wattenhofer, Marie; Di Iorio, M. V.; Rabionet, Raquel; Dougherty, Loretta; ... Antonarakis, Stylianos	2002
unige:9029	Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness	Scott, Hamish Steele; Kudoh, J.; Wattenhofer, M.; Shibuya, K.; ... Antonarakis, Stylianos	2001
unige:8594	Isolation and initial characterization of the mouse Dnmt3l gene	Aapola, Ulla; Lyle, Robert; Krohn, K.; Antonarakis, Stylianos; Peterson, P.	2001

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