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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
unige:8822	Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation	Hutter, Pierre; Couturier, A.; Scott, R. J.; Alday, P.; ... Buerstedde, J. M.	1996
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:25779	Dépistage néonatal systématique de la mucoviscidose en Suisse: dès janvier 2011	Mornand, Anne; Barben, Jürg; Hafen, Gaudenz	2011
unige:9166	Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening	D'Haene, B.; Attanasio, Catia; Beysen, Diane; Dostie, Josee; ... De Baere, Elfride	2009
unige:8814	DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects	Hornef, Nada; Olbrich, Heike; Horvath, Judit; Zariwala, M. A.; ... Omran, Heymut	2006
unige:1068	DNAI1 mutations explain only 2% of primary ciliary dykinesia	Failly, Mike; Saitta, Alexandra; Munoz, Analia; Falconnet, Emilie; ... Blouin, Jean-Louis	2008
unige:8920	Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis	Naveed, Mohammed; Al-Ali, M. T.; Murthy, S. K.; Al-Hajali, Sarah; ... Radhakrishna, Uppala	2006
unige:114072	Effect of the XbaI polymorphism of estrogen receptor alpha on postmenopausal gray matter	Boccardi, Marina; Scassellati, Catia; Ghidoni, Roberta; Testa, Cristina; ... Frisoni, Giovanni	2008
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:8932	Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells	Neerman Arbez, Marguerite; Germanos-Haddad, Myrna; Tzanidakis, Konstantinos; Vu, Dung; ... De Moerloose, Philippe	2004
unige:9061	Fibrinogen Krakow: a novel hypo/dysfibrinogenemia mutation in fibrinogen gamma chain (Asn325Ile) affecting fibrin clot structure and function	Undas, Anetta; Zdziarska, Joanna; Iwaniec, Teresa; Stepien, Ewa; ... Neerman Arbez, Marguerite	2009
unige:8745	FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients	Fokstuen, Siv; Antonarakis, Stylianos; Blouin, Jean-Louis	2003
unige:20579	Functional characterisation of plasma fibrin clots in Polish carriers of fibrinogen gammaArg275His mutation (fibrinogen Zabrze)	Undas, Anetta; Pastuszczak, Maciej; Iwaniec, Teresa; Kapelak, Krystyna; Neerman Arbez, Marguerite	2010
unige:8883	Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome	Marneros, A. G.; Mehenni, H.; Reichenberger, E.; Antonarakis, Stylianos; ... Olsen, B. R.	2001
unige:74254	Genotype-phenotype correlations in attenuated adenomatous polyposis coli	Soravia, Claudio; Berk, T; Madlensky, L; Mitri, A; ... Bapat, B	1998
unige:20665	Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A'	Vorjohann, Silja; Fish, Richard; Biron-Andreani, Christine; Nagaswami, Chandrasekaran; ... Neerman Arbez, Marguerite	2010
unige:56147	Hypothesis for generation of the unstable Hb Bucuresti (beta 42 Phe-->Leu) mutation	Von Planta, Maya; Humbert, James Ronald; Wacker, Pierre; Rimensberger, Peter; ... Beris, Photis	2001
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:8844	Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)	Lalioti, M. D.; Mirotsou, M.; Buresi, C.; Peitsch, M. C.; ... Antonarakis, Stylianos	1997
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:19620	Impaired E-cadherin expression and glutamine synthetase overexpression in solid pseudopapillary neoplasm of the pancreas	Audard, Virginie; Cavard, Catherine; Richa, Hubert; Genevay-Infante, Muriel; ... Flejou, Jean-Francois	2008
unige:8900	In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis	Michaud, Joelle; Wu, Feng; Osato, Motomi; Cottles, G. M.; ... Scott, Hamish Steele	2002
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:8901	Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects	Miesbach, Wolfgang; Scharrer, Inge; Henschen, Agnes; Neerman Arbez, Marguerite; ... Galanakis, Dennis	2010
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:93194	Kjellin's syndrome: fundus autofluorescence, angiographic, and electrophysiologic findings	Frisch, Inez B; Haag, Peter; Steffen, Heimo; Weber, Bernhard H F; Holz, Frank G	2002
unige:8758	Language skills in children with velocardiofacial syndrome (deletion 22q11.2)	Glaser, Bronwyn; Mumme, D. L.; Blasey, Christine; Morris, Michael Andréw; ... Eliez, Stéphan	2002
unige:21243	Marked hemiatrophy in carriers of Duchenne muscular dystrophy	Rajakulendran, Sanjeev; Kuntzer, Thierry; Dunand, Murielle; Yau, Shu C.; ... Hanna, Michael G.	2010
unige:104578	Mechanism of retinoblastoma gene inactivation in the spectrum of neuroendocrine lung tumors	Gouyer, V; Gazzéri, S; Bolon, Isabelle; Drevet, C; ... Brambilla, E	1998
unige:8702	MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother	Dayer, Alexandre; Bottani, Armand; Bouchardy, Isabelle; Fluss, Joel Victor; ... Morris, Michael Andréw	2007

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