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	Title	Authors / Editors	Date
unige:115121	Mutational epidemiology of congenital fibrinogen disorders	Casini, Alessandro; Blondon, Marc; Tintillier, Veronique; Goodyer, Matthew; ... Neerman Arbez, Marguerite	2018
unige:107719	Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections	Ogunjimi, Benson; Zhang, Shen-Ying; Sørensen, Katrine B; Fluss, Joel Victor; ... Mogensen, Trine H	2017
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:77288	Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report	Al Hamami, Hanan; Makrythanasis, Periklis; Al-Allawi, Nasir; Muhsin, Abdulrahman A; Antonarakis, Stylianos	2014
unige:89750	Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration	van der Zee, Julie	2014
unige:74126	Contribution of teg49 small RNA in the 5' upstream transcriptional region of sarA to virulence in Staphylococcus aureus	Kim, Samin; Reyes, Dindo; Beaume, Marie-Emilie; Francois, Patrice; Cheung, Ambrose L.	2014
unige:56001	Oncogenetics and minimal residual disease are independent outcome predictors in adult patients with acute lymphoblastic leukemia	Beldjord, Kheira; Chevret, Sylvie; Asnafi, Vahid; Huguet, Françoise; ... Dombret, Hervé	2014
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:37149	Toward a NOTCH1/FBXW7/RAS/PTEN-based oncogenetic risk classification of adult T-cell acute lymphoblastic leukemia: a Group for Research in Adult Acute Lymphoblastic Leukemia study	Trinquand, Amélie; Tanguy-Schmidt, Aline; Ben Abdelali, Raouf; Lambert, Jérôme; ... Asnafi, Vahid	2013
unige:32453	NADPH oxidase elevations in pyramidal neurons drive psychosocial stress-induced neuropathology	Schiavone, Stefania; Jaquet, Vincent; Sorce, Silvia; Dubois-Dauphin, Michel; ... Krause, Karl-Heinz	2012
unige:45192	EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?	Lesage, Suzanne; Condroyer, Christel; Klebe, Stephan; Lohmann, Ebba; ... Brice, Alexis	2012
unige:45205	Identification of VPS35 mutations replicated in French families with Parkinson disease	Lesage, S; Condroyer, C; Klebe, S; Honoré, A; ... Brice, A	2012
unige:32314	Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency	Tirefort, Yordanka; Uhr, Mario R; Neerman Arbez, Marguerite; De Moerloose, Philippe	2012
unige:32312	Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia	Tirefort, Yordanka; Alson, Olivat Rakoto; De Moerloose, Philippe; Neerman Arbez, Marguerite	2012
unige:25377	Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing	Ratnamala, Uppala; Lyle, Robert; Rawal, Rakesh; Singh, Raminder; ... Radhakrishna, Uppala	2011
unige:32729	Two different fibrinogen gene mutations associated with bleeding in the same family (A αGly13Glu and γGly16Ser) and their impact on fibrin clot properties: fibrinogen Krakow II and Krakow III.	Pietrys, Danuta; Balwierz, Walentyna; Iwaniec, Teresa; Vorjohann, Silja; ... Undas, Anetta	2011
unige:25779	Dépistage néonatal systématique de la mucoviscidose en Suisse: dès janvier 2011	Mornand, Anne; Barben, Jürg; Hafen, Gaudenz	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:45219	A map of human genome variation from population-scale sequencing	1000 Genomes Project Consortium	2010
unige:11651	Telomere length is not predictive of dementia or MCI conversion in the oldest old	Zekry Berger, Dina Selma; Herrmann, François; Irminger-Finger, Irmgard; Ortolan, Laura; ... Krause, Karl-Heinz	2010

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