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	Title	Authors / Editors	Date
unige:9145	Mapping of the human holocarboxylase synthetase gene (HCS) to the Down syndrome critical region of chromosome 21q22	Blouin, Jean-Louis; Duriaux Sail, Geneviève; Antonarakis, Stylianos	1996
unige:8963	Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene	Perrin, G.; Morris, Michael Andréw; Antonarakis, Stylianos; Boltshauser, E.; Hutter, Pierre	1996
unige:9153	The SH3D1A gene maps to human chromosome 21q22.1-->q22.2	Chen, H.; Antonarakis, Stylianos	1997
unige:17551	Diverse modes of alternative splicing of human splicing factor SF1 deduced from the exon-intron structure of the gene	Kraemer, Angela; Quentin, Mireille; Mulhauser, Frank	1998
unige:8647	Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1	Blouin, Jean-Louis; Duriaux Sail, Geneviève; Guipponi, Michel; Rossier, Colette; ... Antonarakis, Stylianos	1998
unige:8832	Identification of sequence variants and analysis of the role of the catechol-O-methyl-transferase gene in schizophrenia susceptibility	Karayiorgou, M.; Gogos, J. A.; Galke, B. L.; Wolyniec, P. S.; ... Pulver, A. E.	1998
unige:8891	Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity	Mehenni, H.; Gehrig, Corinne; Nezu, J.; Oku, A.; ... Antonarakis, Stylianos	1998
unige:8979	The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations	Radhakrishna, U.; Bornholdt, D.; Scott, Hamish Steele; Patel, U. C.; ... Antonarakis, Stylianos	1999
unige:8878	No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD)	Maiti, A. K.; Bartoloni, Lucia; Mitchison, H. M.; Meeks, M.; ... Antonarakis, Stylianos	2000
unige:8619	Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G→T	Attanasio, Catia; De Moerloose, Philippe; Antonarakis, Stylianos; Morris, Michael Andréw; Neerman Arbez, Marguerite	2001
unige:8594	Isolation and initial characterization of the mouse Dnmt3l gene	Aapola, Ulla; Lyle, Robert; Krohn, K.; Antonarakis, Stylianos; Peterson, P.	2001
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: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: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: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: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: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:9143	Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project	Birney, Ewan	2007

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