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	Title	Authors / Editors	Date
unige:9001	A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients	Rosatelli, M. C.; Meloni, A.; Devoto, M.; Cao, A.; ... Antonarakis, Stylianos	1998
unige:1055	A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy	Fokstuen, Siv; Lyle, Robert; Munoz, Analia; Gehrig, Corinne; ... Blouin, Jean-Louis	2008
unige:45219	A map of human genome variation from population-scale sequencing	1000 Genomes Project Consortium	2010
unige:19928	A multidisciplinary study of patients with early-onset PD with and without parkin mutations	Lohmann, E.; Thobois, S.; Lesage, S.; Broussolle, E.; ... Brice, A.	2009
unige:11373	A novel class of secA alleles that exert a signal-sequence-dependent effect on protein export in Escherichia coli	Khatib, Karim; Belin, Dominique	2002
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:45179	Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms	Ibáñez, Pablo; Lesage, Suzanne; Janin, Sabine; Lohmann, Ebba; ... Brice, Alexis	2009
unige:9076	Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency	Villard, Jean; Reith, Walter; Barras, Emmanuele; Gos, A.; ... Mach, Bernard	1997
unige:8964	APECED: a monogenic autoimmune disease providing new clues to self-tolerance	Peterson, P.; Nagamine, K.; Scott, Hamish Steele; Heino, M.; ... Krohn, K. J.	1998
unige:89001	APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication	Seplyarskiy, Vladimir B; Soldatov, Ruslan A; Popadin, Konstantin; Antonarakis, Stylianos; ... Nikolaev, Sergey Igorievich	2016
unige:19175	Are parkin patients particularly suited for deep-brain stimulation?	Lohmann, Ebba; Welter, Marie-Laure; Fraix, Valerie; Krack, Paul; ... Brice, Alexis	2008
unige:8725	Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome	Deutsch, Samuel; Rideau, Alexandra; Bochaton-Piallat, Marie-Luce; Merla, Giuseppe; ... Beris, Photis	2003
unige:73117	ATM alterations in childhood non-Hodgkin lymphoma	Gumy Pause, Fabienne; Wacker, Pierre; Maillet, Philippe; Betts, David R; Sappino, Pascal	2006
unige:47588	ATM gene alterations in childhood acute lymphoblastic leukemias	Gumy Pause, Fabienne; Wacker, Pierre; Maillet, Philippe; Betts, David; Sappino, Pascal	2003
unige:8625	Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia	Bartoloni, Lucia; Blouin, Jean-Louis; Maiti, A. K.; Sainsbury, A.; ... Antonarakis, Stylianos	2001
unige:1797	Candidate gene analysis in three families with acilia syndrome	Wessels, Marja W.; Avital, Avraham; Failly, Mike; Munoz, Analia; ... Willems, Patrick J.	2008
unige:2538	Candidate genes for temporal lobe epilepsy: a replication study	Trachsler-Salzmann, Annick; Perroud, Nader; Crespel, Arielle; Lambercy, Carmen; Malafosse, Alain	2008
unige:9030	Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis	Scott, Hamish Steele; Kyriakou, D. S.; Peterson, P.; Heino, M.; ... Antonarakis, Stylianos	1998
unige:74108	Characterization of Streptococcus tigurinus small-colony variants causing prosthetic joint infection by comparative whole-genome analyses	Zbinden, Andrea; Quiblier, Chantal; Hernandez, David; Herzog, Kathrin; ... Francois, Patrice	2014
unige:8627	Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency	Bartoloni, Lucia; Wattenhofer, M.; Kudoh, J.; Berry, A.; ... Antonarakis, Stylianos	2000

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