Found 259 results
2019
Nouri A, Autrusseau F, Bourcier R, Gaignard A, L'Allinec V, Menguy C, Véziers J, Desal H, Loirand G, Redon R.  2019.  3D bifurcations characterization for intra-cranial aneurysms prediction. {SPIE} {Medical} {Imaging}.
Leroy T, Louvet J-M, Lalanne C, Le Provost G, Labadie K, Aury J-M, Delzon S, Plomion C, Kremer A.  2019.  Adaptive introgression as a driver of local adaptation to climate in European white oaks. New Phytologist. n/a
Boujdad F-Z, Gaignard A, Sudholt M, Garzon-Alfonso W, Navarro LDaniel Ben, Redon R.  2019.  On Distributed Collaboration for Biomedical Analyses. 2019 19th {IEEE}/{ACM} {International} {Symposium} on {Cluster}, {Cloud} and {Grid} {Computing} ({CCGRID}). :611–620.
Kalaš M, Plantard L, Sladoje N, Lindblad J, Kirschmann MAlexander, Jones M, Chessel A, Scholz LAluisio, Rössler F, Dufour A et al..  2019.  EDAM-bioimaging : The ontology of bioimage informatics operations, topics, data, and formats.
Thériault S, Dina C, Messika-Zeitoun D, Le Scouarnec S, Capoulade R, Gaudreault N, Rigade S, Li Z, Simonet F, Lamontagne M et al..  2019.  Genetic Association Analyses Highlight \textitIL6} , \textitALPL} , and \textitNAV1} As 3 New Susceptibility Genes Underlying Calcific Aortic Valve Stenosis. Circulation: Genomic and Precision Medicine. 12:431–441.
Folschette M, Chennen K, Gaignard A, Redon R, Skaf-Molli H, Poch O, Laporte J, Thompson JD.  2019.  INEX-MED: a Knowledge Graph to explore and link heterogeneous bio-medical data. {JOBIM} 2019.
Gaignard A, Thompson JD, Chennen K, Folschette M, Laporte J, Poch O, Redon R, Skaf-Molli H.  2019.  INEX-MED: INtegration and EXploration of heterogeneous bio-MEDical data.
Leveque X, Hochane M, Geraldo F, Dumont S, Gratas C, Oliver L, Gaignier C, Trichet V, Layrolle P, Heymann D et al..  2019.  Low-Dose Pesticide Mixture Induces Accelerated Mesenchymal Stem Cell Aging In Vitro: Pesticides and Mesenchymal Stem Cells Aging. STEM CELLS. 37:1083–1094.
Guimbretiere G., Le Scouarnec S., Rigade S., Boureau A.S., Cueff C., Capoulade R., Dina C., Mérot J., Schott J.J., Le Tourneau T..  2019.  Phenotypic and genotypic approach of a large family with early onset tricuspid aortic valve sclerosis-stenosis: A multimodality evaluation. Archives of Cardiovascular Diseases Supplements. 11:66–67.
Persyn E, Sassi M, Aubry M, Broly M, Delanou S, Asehnoune K, Caroff N, Crémet L.  2019.  Rapid genetic and phenotypic changes in Pseudomonas aeruginosa clinical strains during ventilator-associated pneumonia. Scientific Reports. 9:4720.
Meistermann D, Loubersac S, Reignier A, Firmin J, Campion VFrancois, Kilens S, Lelièvre Y, Lammers J, Feyeux M, Hulin P et al..  2019.  Spatio-temporal analysis of human preimplantation development reveals dynamics of epiblast and trophectoderm. bioRxiv. :604751.
Le Bastard Q, Vangay P, Batard E, Knights D, Montassier E.  2019.  US immigration is associated with rapid and persistent acquisition of antibiotic resistance genes in the gut. Clinical Infectious Diseases.
2018
Lindenbaum P, Redon R.  2018.  bioalcidae, samjs and vcffilterjs: object-oriented formatters and filters for bioinformatics files. Bioinformatics. 34:1224–1225.
Danger R, Royer P-J, Reboulleau D, Durand E, Loy J, Tissot A, Lacoste P, Roux A, Reynaud-Gaubert M, Gomez C et al..  2018.  Blood Gene Expression Predicts Bronchiolitis Obliterans Syndrome. Frontiers in Immunology. 8:1841.
Chebouba L, Miannay B, Boughaci D, Guziolowski C.  2018.  Discriminate the response of Acute Myeloid Leukemia patients to treatment by using proteomics data and Answer Set Programming. BMC Bioinformatics. 19:59.
Bézie S, Meistermann D, Boucault L, Kilens S, Zoppi J, Autrusseau E, Donnart A, Nerrière-Daguin V, Bellier-Waast F, Charpentier E et al..  2018.  Ex Vivo Expanded Human Non-Cytotoxic CD8+CD45RClow/− Tregs Efficiently Delay Skin Graft Rejection and GVHD in Humanized Mice. Frontiers in Immunology. 8:2014.
Lenglet M, Robriquet F, Schwarz K, Camps C, Couturier A, Hoogewijs D, Buffet A, Knight SJL, Gad S, Couvé S et al..  2018.  Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease. Blood. 132:469–483.
Steenman M, Espitia O, Maurel B, Guyomarch B, Heymann M-F, Pistorius M-A, Ory B, Heymann D, Houlgatte R, Gouëffic Y et al..  2018.  Identification of genomic differences among peripheral arterial beds in atherosclerotic and healthy arteries. Scientific Reports. 8:3940.
Persyn E, Redon R, Bellanger L, Dina C.  2018.  The impact of a fine-scale population stratification on rare variant association test results. PLOS ONE. 13:e0207677.
Espitia O, Chatelais M, Steenman M, Charrier C, Maurel B, Georges S, Houlgatte R, Verrecchia F, Ory B, Lamoureux F et al..  2018.  Implication of molecular vascular smooth muscle cell heterogeneity among arterial beds in arterial calcification. PLOS ONE. 13:e0191976.
Nicol B, Salou M, Vogel I, Garcia A, Dugast E, Morille J, Kilens S, Charpentier E, Donnart A, Nedellec S et al..  2018.  An intermediate level of CD161 expression defines a novel activated, inflammatory, and pathogenic subset of CD8 + T cells involved in multiple sclerosis. Journal of Autoimmunity. 88:61–74.
M Quach E, Chen W, Li R.  2018.  Mechanisms of platelet clearance and translation to improve platelet storage.. Blood.
Consortium TMilieu Int, Kilens S, Meistermann D, Moreno D, Chariau C, Gaignerie A, Reignier A, Lelièvre Y, Casanova M, Vallot C et al..  2018.  Parallel derivation of isogenic human primed and naive induced pluripotent stem cells. Nature Communications. 9:360.
Chebouba L, Boughaci D, Guziolowski C.  2018.  Proteomics Versus Clinical Data and Stochastic Local Search Based Feature Selection for Acute Myeloid Leukemia Patients’ Classification. Journal of Medical Systems. 42:129.
Bourcier R, Le Scouarnec S, Bonnaud S, Karakachoff M, Bourcereau E, Heurtebise-Chrétien S, Menguy C, Dina C, Simonet F, Moles A et al..  2018.  Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm. The American Journal of Human Genetics. 102:133–141.
Gaignard A.  2018.  Sharing massive data analysis: from provenance to linked experiment reports.
Mandakovic D, Rojas C, Maldonado J, Latorre M, Travisany D, Delage E, Bihouée A, Jean G, Díaz FP, Fernández-Gómez B et al..  2018.  Structure and co-occurrence patterns in microbial communities under acute environmental stress reveal ecological factors fostering resilience. Scientific Reports. 8:5875.
Dumont S, Le Pennec S, Donnart A, Teusan R, Steenman M, Chevalier C, Houlgatte R, Savagner F.  2018.  Transcriptional orchestration of mitochondrial homeostasis in a cellular model of PGC-1-related coactivator-dependent thyroid tumor. Oncotarget. 9
Tessoulin B, Moreau-Aubry A, Descamps G, Gomez-Bougie P, Maïga S, Gaignard A, Chiron D, Ménoret E, Le Gouill S, Moreau P et al..  2018.  Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways. Journal of Hematology & Oncology. 11:137.
2017
Küry S, van Woerden GM, Besnard T, Onori MProietti, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S et al..  2017.  De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. The American Journal of Human Genetics. 101:768–788.
Persyn E, Karakachoff M, Le Scouarnec S, Le Clézio C, Campion D, Consortium FExome, Schott J-J, Redon R, Bellanger L, Dina C.  2017.  DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease. PLOS ONE. 12:e0179364.
Oizel K, Chauvin C, Oliver L, Gratas C, Geraldo F, Jarry U, Scotet E, Rabe M, Alves-Guerra M-C, Teusan R et al..  2017.  Efficient Mitochondrial Glutamine Targeting Prevails Over Glioblastoma Metabolic Plasticity. Clinical Cancer Research. 23:6292–6304.
Leroy T, Roux C, Villate L, Bodénès C, Romiguier J, Paiva JAP, Dossat C, Aury J-M, Plomion C, Kremer A.  2017.  Extensive recent secondary contacts between four European white oak species. New Phytologist. 214:865–878.
Maniangou B, Legrand N, Alizadeh M, Guyet U, Willem C, David G, Charpentier E, Walencik A, Retière C, Gagne K.  2017.  Killer Immunoglobulin-Like Receptor Allele Determination Using Next-Generation Sequencing Technology. Frontiers in Immunology. 8:547.
Renson P., Fablet C., Le Dimna M., Mahé S., Touzain F., Blanchard Y., Paboeuf F., Rose N., Bourry O..  2017.  Preparation for emergence of an Eastern European porcine reproductive and respiratory syndrome virus (PRRSV) strain in Western Europe: Immunization with modified live virus vaccines or a field strain confers partial protection. Veterinary Microbiology. 204:133–140.
Lefebvre M, Bourdon J, Guziolowski C, Gaignard A.  2017.  Regulation and signalization graph assembly through Linked Open Data. {JOBIM} 2017.
Cohen-Boulakia S, Belhajjame K, Collin O, Chopard J, Froidevaux C, Gaignard A, Hinsen K, Larmande P, Le Bras Y, Lemoine F et al..  2017.  Scientific workflows for computational reproducibility in the life sciences: Status, challenges and opportunities. Future Generation Computer Systems. 75:284–298.
Riou R, Bressollette-Bodin C, Boutoille D, Gagne K, Rodallec A, Lefebvre M, Raffi F, Senitzer D, Imbert-Marcille B-M, Retière C.  2017.  Severe Symptomatic Primary Human Cytomegalovirus Infection despite Effective Innate and Adaptive Immune Responses. Journal of Virology. 91:e02245–16,/jvi/91/5/e02245–16.atom.
Gaignard A, Belhajjame K, Skaf-Molli H.  2017.  SHARP: Harmonizing and Bridging Cross-Workflow Provenance. The {Semantic} {Web}: {ESWC} 2017 {Satellite} {Events}. 10577:219–234.
Gaignard A, Belhajjame K, Skaf-Molli H.  2017.  SHARP: Harmonizing Galaxy and Taverna workflow provenance. {SeWeBMeDA} 2017 : {Semantic} {Web} solutions for large-scale {BioMedical} {Data} {Analtics} - 14th {ESWC} 2017.
Picarda E, Bézie S, Boucault L, Autrusseau E, Kilens S, Meistermann D, Martinet B, Daguin V, Donnart A, Charpentier E et al..  2017.  Transient antibody targeting of CD45RC induces transplant tolerance and potent antigen-specific regulatory T cells. JCI Insight. 2
2016
Grandval P, Fabre AJ, Béroud C, Olschwang S.  2016.  Consideration surrounding incidental findings throughout multigene panel testing in cancer genetics.. Clinical genetics. 89:267–268.
Isidor B, Küry S, Rosenfeld JA, Besnard T, Schmitt S, Joss S, Davies SJ, Lebel RRoger, Henderson A, Schaaf CP et al..  2016.  De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene \textitCHAMP1} Cause Syndromic Intellectual Disability. Human Mutation. 37:354–358.
Portero V, Le Scouarnec S, Es‐Salah‐Lamoureux Z, Burel S, Gourraud J‐B, Bonnaud S, Lindenbaum P, Simonet F, Violleau J, Baron E et al..  2016.  Dysfunction of the Voltage‐Gated K $^\textrm+}$ Channel β2 Subunit in a Familial Case of Brugada Syndrome. Journal of the American Heart Association. 5
Gaignard A, Skaf-Molli H, Bihouée A.  2016.  From scientific workflow patterns to 5-star linked open data. {TaPP} 2016: 8th {USENIX} {Workshop} on the {Theory} and {Practice} of {Provenance}.
Jiang X, Zghidi-Abouzid O, Oger-Desfeux C, Hommais F, Greliche N, Muskhelishvili G, Nasser W, Reverchon S.  2016.  Global transcriptional response of Dickeya dadantii to environmental stimuli relevant to the plant infection. Environ Microbiol. 18:3651-3672.
Rimbert A, Pichelin M, Lecointe S, Marrec M, Le Scouarnec S, Barrak E, Croyal M, Krempf M, Le Marec H, Redon R et al..  2016.  Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia. Atherosclerosis. 250:52–56.
Salvetti A, Couté Y, Epstein A, Arata L, Kraut A, Navratil V, Bouvet P, Greco A.  2016.  Nuclear Functions of Nucleolin through Global Proteomics and Interactomic Approaches. J Proteome Res. 15:1659-69.
Douanne T, Gavard J, Bidère N.  2016.  The paracaspase MALT1 cleaves the LUBAC subunit HOIL1 during antigen receptor signaling. Journal of Cell Science. 129:1775–1780.
Carrouel F, Viennot S, Santamaria J, Veber P, Bourgeois D.  2016.  Quantitative Molecular Detection of 19 Major Pathogens in the Interdental Biofilm of Periodontally Healthy Young Adults. Front Microbiol. 7:840.
Sanchez-Castro M, Eldjouzi H, Charpentier E, Busson P-F, Hauet Q, Lindenbaum P, Delasalle-Guyomarch B, Baudry A, Pichon O, Pascal C et al..  2016.  Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta. Circulation: Cardiovascular Genetics. 9:86–94.
Freyermuth F, Rau F, Kokunai Y, Linke T, Sellier C, Nakamori M, Kino Y, Arandel L, Jollet A, Thibault C et al..  2016.  Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy. Nat Commun. 7:11067.
Daumy X, Amarouch M-Y, Lindenbaum P, Bonnaud S, Charpentier E, Bianchi B, Nafzger S, Baron E, Fouchard S, Thollet A et al..  2016.  Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I. International Journal of Cardiology. 207:349–358.
Dumas M-E, Domange C, Calderari S, Martínez ARodríguez, Ayala R, Wilder SP, Suárez-Zamorano N, Collins SC, Wallis RH, Gu Q et al..  2016.  Topological analysis of metabolic networks integrating co-segregating transcriptomes and metabolomes in type 2 diabetic rat congenic series. Genome Med. 8:101.
Salgado D, Desvignes J-P, Ra\"ı G, Blanchard A, Miltgen M, Pinard A, Lévy N, Collod-Beroud G, BEROUD C.  2016.  UMD-Predictor: a High Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution.. Human mutation.
2015
Lecomte E, Tournaire B, Cogné B, Dupont J-B, Lindenbaum P, Martin-Fontaine M, Broucque F, Robin C, Hebben M, Merten O-W et al..  2015.  Advanced Characterization of DNA Molecules in rAAV Vector Preparations by Single-stranded Virus Next-generation Sequencing. Molecular Therapy - Nucleic Acids. 4:e260.
Gorokhova S, Cerino M, Mathieu Y, Courrier S, Desvignes J-P, Salgado D, BEROUD C, Krahn M, Bartoli M.  2015.  Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.. Applied {&} translational genomics. 7:26–31.
Galia W, Mariani-Kurkdjian P, Bastien S, Loukiadis E, Blanquet-Diot S, Leriche F\ccoise, Brugère H, Shima A, Oswald E, Cournoyer B et al..  2015.  Correction for Galia et al., Genome Sequence and Annotation of a Human Infection Isolate of Escherichia coli O26:H11 Involved in a Raw Milk Cheese Outbreak. Genome Announc. 3
Group theDESIR, Karakachoff M, Duforet-Frebourg N, Simonet F, Le Scouarnec S, Pellen N, Lecointe S, Charpentier E, Gros F, Cauchi S et al..  2015.  Fine-scale human genetic structure in Western France. European Journal of Human Genetics. 23:831–836.
Grandval P, Fabre AJ, Gaildrat P, Baert-Desurmont S, Blayau M, Buisine M-P, Coulet F, Maugard C, Pinson S, Remenieras A et al..  2015.  Genomic variations integrated database for MUTYH-associated adenomatous polyposis.. Journal of medical genetics. 52:25–27.
Manes G, Guillaumie T, Vos WL, Devos A, Audo I, Zeitz C, Marquette V, Zanlonghi X, Defoort-Dhellemmes S, Puech B et al..  2015.  High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features.. American journal of ophthalmology. 159:302–314.
Faucon F, Dusfour I, Gaude T, Navratil V, Boyer F, Chandre F, Sirisopa P, Thanispong K, Juntarajumnong W, Poupardin R et al..  2015.  Identifying genomic changes associated with insecticide resistance in the dengue mosquito Aedes aegypti by deep targeted sequencing. Genome Res. 25:1347-59.
Blavet N, Blavet H, Muyle A, Käfer J, Cegan R, Deschamps C, Zemp N, Mousset S, Aubourg S, Bergero R et al..  2015.  Identifying new sex-linked genes through BAC sequencing in the dioecious plant Silene latifolia. BMC Genomics. 16:546.
Sevy A, Cerino M, Gorokhova S, Dionnet E, Mathieu Y, Verschueren A, Franques J, de Paula AMaues, Figarella-Branger D, Lagarde A et al..  2015.  Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing.. Journal of neurology, neurosurgery, and psychiatry.
Mitchell A, Chang H-Y, Daugherty L, Fraser M, Hunter S, Lopez R, McAnulla C, McMenamin C, Nuka G, Pesseat S et al..  2015.  The InterPro protein families database: the classification resource after 15 years. Nucleic Acids Res. 43:D213-21.
Rapetti-Mauss R, Lacoste C, Picard V, Guitton C, Lombard E, Loosveld M, Nivaggioni V, Dasilva N, Salgado D, Desvignes J-P et al..  2015.  A mutation in the Gardos channel is associated with hereditary xerocytosis.. Blood. 126:1273–1280.
Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide A-L, Quélin C, Manouvrier S, Baujat G, Fradin M et al..  2015.  New insights into genotype-phenotype correlation for GLI3 mutations.. Eur J Hum Genet. 23(1):92-102.
Tudoran OMihaela, Soritau O, Balacescu L, Pop L, Meurice G, Visan S, Lindberg S, Eniu A, Langel U, Balacescu O et al..  2015.  PDGF beta targeting in cervical cancer cells suggest a fine-tuning of compensatory signalling pathways to sustain tumourigenic stimulation.. J Cell Mol Med. 19(2):371-82.
Nizon M, Andrieux J, Rooryck C, de Blois M-C, Bourel-Ponchel E, Bourgois B, Boute O, David A, Delobel B, Duban-Bedu B et al..  2015.  Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.. Am J Med Genet A. 167A(1):111-22.
Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MPierre, Vianey-Saban C, Parenti G, Andria G et al..  2015.  Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.. Pediatr Radiol. 45(7):965-76.
Joly D, BEROUD C, Grünfeld J-P.  2015.  Rare inherited disorders with renal involvement-approach to the patient.. Kidney international. 87:901–908.
Chatagnon A, Veber P, Morin V, Bedo J, Triqueneaux G, Sémon M, Laudet V, d'Alché-Buc F, Benoit G.  2015.  RAR/RXR binding dynamics distinguish pluripotency from differentiation associated cis-regulatory elements. Nucleic Acids Res. 43:4833-54.
Billoir E, Navratil V, Blaise BJ.  2015.  Sample size calculation in metabolic phenotyping studies. Brief Bioinform. 16:813-9.
Le Scouarnec S, Karakachoff M, Gourraud J-B, Lindenbaum P, Bonnaud S, Portero V, Duboscq-Bidot L, Daumy X, Simonet F, Teusan R et al..  2015.  Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome. Human Molecular Genetics. 24:2757–2763.
Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T et al..  2015.  The TREAT-NMD DMD Global database: Analysis of More Than 7000 Duchenne Muscular Dystrophy Mutations.. Human mutation.
Guirimand T, Delmotte S, Navratil V.  2015.  VirHostNet 2.0: surfing on the web of virus/host molecular interactions data. Nucleic Acids Res. 43:D583-7.
Leroy C, Jacquemont M-L, Doray B, Lamblin D, Cormier-Daire V, Philippe A, Nusbaum S, Patrat C, Steffann J, Colleaux L et al..  2015.  Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.. Clin Genet.
2014
Egloff M, Encha-Razavi F, Garel C, Bonnière-Darcy M, Millischer A-E, Lapierre J-M, Fontaine S, de Blois M-C, Vekemans M, Turleau C et al..  2014.  17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis.. Cytogenet Genome Res. 144(3):178-82.
Damm F, Mylonas E, Cosson A, Yoshida K, Valle VDella, Mouly E, Diop M'boyba, Scourzic L, Shiraishi Y, Chiba K et al..  2014.  Acquired initiating mutations in early hematopoietic cells of CLL patients.. Cancer Discov. 4(9):1088-101.
Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NEl, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P et al..  2014.  C5orf42 is the major gene responsible for OFD syndrome type VI.. Hum Genet. 133(3):367-77.
Teissier R, Flechtner I, Colmenares A, Lambot-Juhan K, Baujat G, Pauwels C, Samara-Boustani D, Beltrand J, Simon A, Thalassinos C et al..  2014.  Characterization and prevalence of severe primary IGF1 deficiency in a large cohort of French children with short stature.. Eur J Endocrinol. 170(6):847-54.
Després L, Stalinski R, Faucon F, Navratil V, Viari A, Paris M, Tetreau G, Poupardin R, Riaz MAsam, Bonin A et al..  2014.  Chemical and biological insecticides select distinct gene expression patterns in Aedes aegypti mosquito. Biol Lett. 10:20140716.
Albiges L, Goubar A, Scott V, Vicier C, Lefèbvre C, Alsafadi S, Commo F, Saghatchian M, Lazar V, Dessen P et al..  2014.  Chk1 as a new therapeutic target in triple-negative breast cancer.. Breast. 23(3):250-8.
Xi J, Blandin G, Lu J, Luo S, Zhu W, BEROUD C, Pecheux C, Labelle V, Lévy N, Urtizberea JAndoni et al..  2014.  Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.. Neurology India. 62:635–639.
Mornet E, Hofmann C, Bloch-Zupan A, Girschick H, Le Merrer M.  2014.  Clinical utility gene card for: hypophosphatasia - update 2013.. Eur J Hum Genet. 22(4)
David J-P, Faucon F, Chandor-Proust A, Poupardin R, Riaz MAsam, Bonin A, Navratil V, Reynaud S.  2014.  Comparative analysis of response to selection with three insecticides in the dengue mosquito Aedes aegypti using mRNA sequencing. BMC Genomics. 15:174.
Bellgard M, BEROUD C, Parkinson K, Harris T, Ayme S, Baynam G, Weeramanthri T, Dawkins H, Hunter A.  2014.  Correction: Dispelling myths about rare disease registry system development.. Source code for biology and medicine. 9:4.
Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, BEROUD C, Mathews KD et al..  2014.  Diagnostic approach to the congenital muscular dystrophies.. Neuromuscular disorders : NMD. 24:289–311.
Castro-González C, Luengo-Oroz MA, Duloquin L, Savy T, Rizzi B, Desnoulez S, Doursat R, Kergosien YL, Ledesma-Carbayo MJ, Bourgine P et al..  2014.  A digital framework to build, visualize and analyze a gene expression atlas with cellular resolution in zebrafish early embryogenesis.. PLoS Comput Biol. 10(6):e1003670.
Mau-Them FTran, Boualam A, Barat-Houari M, Jeandel C, Cottalorda J, Cormier-Daire V, Fabre A, Dumont B, Lefort G, Baujat G et al..  2014.  Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneity.. Am J Med Genet A. 164A(3):769-73.
Pinto G, Cormier-Daire V, Le Merrer M, Samara-Boustani D, Baujat G, Fresneau L, Viaud M, Souberbielle JClaude, Pineau JClaude, Polak M.  2014.  Efficacy and safety of growth hormone treatment in children with hypochondroplasia: comparison with an historical cohort.. Horm Res Paediatr. 82(6):355-63.
Bousson V, Rey-Jouvin C, Laredo J-D, Le Merrer M, Martin-Duverneuil N, Feydy A, Aubert S, Chapurlat R, Orcel P.  2014.  Fibrous dysplasia and McCune-Albright syndrome: imaging for positive and differential diagnoses, prognosis, and follow-up guidelines.. Eur J Radiol. 83(10):1828-42.
Després L, Stalinski R, Tetreau G, Paris M, Bonin A, Navratil V, Reynaud S, David J-P.  2014.  Gene expression patterns and sequence polymorphisms associated with mosquito resistance to Bacillus thuringiensis israelensis toxins. BMC Genomics. 15:926.
Kergourlay V, Ra\"ı G, Blandin G, Salgado D, BEROUD C, Lévy N, Krahn M, Bartoli M.  2014.  Identification of splicing defects caused by mutations in the dysferlin gene.. Human mutation. 35:1532–1541.
Regnault C, Worms IAM, Oger-Desfeux C, MelodeLima C, Veyrenc S, Bayle M-L, Combourieu B, Bonin A, Renaud J, Raveton M et al..  2014.  Impaired liver function in Xenopus tropicalis exposed to benzo[a]pyrene: transcriptomic and metabolic evidence. BMC Genomics. 15:666.
Aurégan J-C, Odent T, Coyle RM, Miladi L, Wicart P, Dubousset J, Le Merrer M, Padovani J-P, Glorion C.  2014.  Ischiovertebral dysplasia: a retrospective analysis of 30 consecutive cases pointing out the specifics and risks of the spine management.. Spine (Phila Pa 1976). 39(9):E564-75.
Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A et al..  2014.  Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.. Journal of neurology. 261:152–163.
Albiges L, Guégan J, Le Formal A, Verkarre V, Rioux-Leclercq N, Sibony M, Bernhard J-C, Camparo P, Merabet Z, Molinie V et al..  2014.  MET is a potential target across all papillary renal cell carcinomas: result from a large molecular study of pRCC with CGH array and matching gene expression array.. Clin Cancer Res. 20(13):3411-21.
Descotes F, Dessen P, Bringuier PPaul, Decaussin M, Martin PMarie, Adams M, Villers A, Lechevallier E, Rebillard X, Rodriguez-Lafrasse C et al..  2014.  Microarray gene expression profiling and analysis of bladder cancer supports the sub-classification of T1 tumours into T1a and T1b stages.. BJU Int. 113(2):333-42.
Ghosh T, Aprea J, Nardelli J, Engel H, Selinger C, Mombereau C, Lemonnier T, Moutkine I, Schwendimann L, Dori M et al..  2014.  MicroRNAs establish robustness and adaptability of a critical gene network to regulate progenitor fate decisions during cortical neurogenesis.. Cell Rep. 7(6):1779-88.
Valenti D, de Bari L, De Filippis B, Henrion-Caude A, Vacca RAnna.  2014.  Mitochondrial dysfunction as a central actor in intellectual disability-related diseases: an overview of Down syndrome, autism, Fragile X and Rett syndrome.. Neurosci Biobehav Rev. 46 Pt 2:202-17.
Girard M, Lacaille F, Verkarre V, Mategot R, Feldmann G, Grodet A, Sauvat F, Irtan S, Davit-Spraul A, Jacquemin E et al..  2014.  MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease.. Hepatology. 60(1):301-10.
Noman MZaeem, Desantis G, Janji B, Hasmim M, Karray S, Dessen P, Bronte V, Chouaib S.  2014.  PD-L1 is a novel direct target of HIF-1α, and its blockade under hypoxia enhanced MDSC-mediated T cell activation.. J Exp Med. 211(5):781-90.
Loriot Y, Mordant P, Dugue D, Geneste O, Gombos A, Opolon P, Guegan J, Perfettini J-L, Pierre A, Berthier LK et al..  2014.  Radiosensitization by a novel Bcl-2 and Bcl-XL inhibitor S44563 in small-cell lung cancer.. Cell Death Dis. 5:e1423.
Thompson R, Johnston L, Taruscio D, Monaco L, BEROUD C, Gut IG, Hansson MG, Hoen P-BA 't, Patrinos GP, Dawkins H et al..  2014.  RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.. Journal of general internal medicine. 29 Suppl 3:S780–7.
Romero AI, Chaput N, Poirier-Colame V, Rusakiewicz S, Jacquelot N, Chaba K, Mortier E, Jacques Y, Caillat-Zucman S, Flament C et al..  2014.  Regulation of CD4(+)NKG2D(+) Th1 cells in patients with metastatic melanoma treated with sorafenib: role of IL-15Rα and NKG2D triggering.. Cancer Res. 74(1):68-80.
Lazar V, Lassau N, Meurice G, Loriot Y, Peña C, Massard C, Robert C, Robert T, Le Berre M-A, de Baere T et al..  2014.  Sorafenib plus dacarbazine in solid tumors: a phase I study with dynamic contrast-enhanced ultrasonography and genomic analysis of sequential tumor biopsy samples.. Invest New Drugs. 32(2):312-22.
David M, Naudin C, Letourneur M, Polrot M, Renoir J-M, Lazar V, Dessen P, Roche S, Bertoglio J, Pierre J.  2014.  Suppressor of cytokine signaling 1 modulates invasion and metastatic potential of colorectal cancer cells.. Mol Oncol. 8(5):942-55.
Nakouzi NAl, Cotteret S, Commo F, Gaudin C, Rajpar S, Dessen P, Vielh P, Fizazi K, Chauchereau A.  2014.  Targeting CDC25C, PLK1 and CHEK1 to overcome Docetaxel resistance induced by loss of LZTS1 in prostate cancer.. Oncotarget. 5(3):667-78.
Grandval P, Blayau M, Buisine M-P, Coulet F, Maugard C, Pinson S, Remenieras A, Tinat J, Uhrhammer N, BEROUD C et al..  2014.  The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations.. Human mutation. 35:532–536.
Flechtner I, Lambot-Juhan K, Teissier R, Colmenares A, Baujat G, Beltrand J, Ajaltouni Z, Pauwels C, Pinto G, Samara-Boustani D et al..  2014.  Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients.. Eur J Endocrinol. 170(5):677-84.
Domingues MJ, Rambow F, Job B, Papon L, Liu W, Larue L, Bonaventure J.  2014.  β-catenin inhibitor ICAT modulates the invasive motility of melanoma cells.. Cancer Res. 74(7):1983-95.
2013
Zufferey F, Hadj-Rabia S, De Sandre-Giovannoli A, Dufier J-L, Leheup B, Schweitze C, Bodemer C, Cormier-Daire V, Le Merrer M.  2013.  Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type.. Am J Med Genet A. 161A(7):1786-91.
Huret J-L, Ahmad M, Arsaban M, Bernheim A, Cigna J, Desangles F, Guignard J-C, Jacquemot-Perbal M-C, Labarussias M, Leberre V et al..  2013.  Atlas of genetics and cytogenetics in oncology and haematology in 2013.. Nucleic Acids Res. 41(Database issue):D920-4.
Jannot A-S, Pelet A, Henrion-Caude A, Chaoui A, Masse-Morel M, Arnold S, Sanlaville D, Ceccherini I, Borrego S, Hofstra RMW et al..  2013.  Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease.. PLoS One. 8(5):e62519.
Michels J, Vitale I, Galluzzi L, Adam J, Olaussen KAndré, Kepp O, Senovilla L, Talhaoui I, Guégan J, Enot DPierre et al..  2013.  Cisplatin resistance associated with PARP hyperactivation.. Cancer Res. 73(7):2271-80.
Itzykson R, Kosmider O, Renneville A, Morabito M, Preudhomme C, Berthon C, Adès L, Fenaux P, Platzbecker U, Gagey O et al..  2013.  Clonal architecture of chronic myelomonocytic leukemias.. Blood. 121(12):2186-98.
Deberne M, Levy A, Mondini M, Dessen P, Vivet S, Supiramaniam A, Vozenin M-C, Deutsch E.  2013.  The combination of the antiviral agent cidofovir and anti-EGFR antibody cetuximab exerts an antiproliferative effect on HPV-positive cervical cancer cell lines' in-vitro and in-vivo xenografts.. Anticancer Drugs. 24(6):599-608.
Dmitriev P, Stankevicins L, Ansseau E, Petrov A, Barat A, Dessen P, Robert T, Turki A, Lazar V, Labourer E et al..  2013.  Defective regulation of microRNA target genes in myoblasts from facioscapulohumeral dystrophy patients.. J Biol Chem. 288(49):34989-5002.
Bluteau O, Langlois T, Rivera-Munoz P, Favale F, Rameau P, Meurice G, Dessen P, Solary E, Raslova H, Mercher T et al..  2013.  Developmental changes in human megakaryopoiesis.. J Thromb Haemost. 11(9):1730-41.
Bellgard M, BEROUD C, Parkinson K, Harris T, Ayme S, Baynam G, Weeramanthri T, Dawkins H, Hunter A.  2013.  Dispelling myths about rare disease registry system development.. Source code for biology and medicine. 8:21.
Michot C, Corsini C, Sanlaville D, Baumann C, Toutain A, Philip N, Busa T, Holder M, Faivre L, Odent S et al..  2013.  Finger creases lend a hand in Kabuki syndrome.. Eur J Med Genet. 56(10):556-60.
Ly M, Valent A, Diallo G, Penault-Lorca F, Dumke K, Marty V, Viehl P, Lazar V, Job B, Richon C et al..  2013.  Gene copy number variations in breast cancer of Sub-Saharan African women.. Breast. 22(3):295-300.
Mittempergher L, Saghatchian M, Wolf DM, Michiels S, Canisius S, Dessen P, Delaloge S, Lazar V, Benz SC, Tursz T et al..  2013.  A gene signature for late distant metastasis in breast cancer identifies a potential mechanism of late recurrences.. Mol Oncol. 7(5):987-99.
Bandiera S, Cartault F, Jannot A-S, Hatem E, Girard M, Rifai L, Loiseau C, Munnich A, Lyonnet S, Henrion-Caude A.  2013.  Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.. PLoS One. 8(1):e54791.
Mehawej C, Courcet J-B, Baujat G, Mouy R, Gérard M, Landru I, Gosselin M, Koehrer P, Mousson C, Breton S et al..  2013.  The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability.. Am J Med Genet A. 161A(12):3023-9.
Malinge S, Thiollier C, Chlon TM, Doré LC, Diebold L, Bluteau O, Mabialah V, Vainchenker W, Dessen P, Winandy S et al..  2013.  Ikaros inhibits megakaryopoiesis through functional interaction with GATA-1 and NOTCH signaling.. Blood. 121(13):2440-51.
Lazar V, Suo C, Oréar C, van den Oord J, Balogh Z, Guégan J, Job B, Meurice G, Ripoche H, Calza S et al..  2013.  Integrated molecular portrait of non-small cell lung cancers.. BMC Med Genomics. 6:53.
Demongeot J, Hazgui H, Bandiera S, Cohen O, Henrion-Caude A.  2013.  MitomiRs, chloromiRs and modelling of the microRNA inhibition.. Acta Biotheor. 61(3):367-83.
Bandiera S, Matégot R, Girard M, Demongeot J, Henrion-Caude A.  2013.  MitomiRs delineating the intracellular localization of microRNAs at mitochondria.. Free Radic Biol Med. 64:12-9.
Essaoui M, Nizon M, Beaujard MP, Carrier A, Tantau J, de Blois MC, Fontaine S, Michot C, Amiel J, Bernard JP et al..  2013.  Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid.. Eur J Med Genet. 56(9):502-5.
Rio M, Royer G, Gobin S, de Blois MC, Ozilou C, Bernheim A, Nizon M, Munnich A, Bonnefont J-P, Romana S et al..  2013.  Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.. Clin Genet. 84(1):31-6.
Ziyadeh J, Le Merrer M, Robert M, Arnaud E, Valayannopoulos V, Di Rocco F.  2013.  Mucopolysaccharidosis type I and craniosynostosis.. Acta Neurochir (Wien). 155(10):1973-6.
Humbertclaude V, Hamroun D, Picot M-C, Bezzou K, Bérard C, Boespflug-Tanguy O, Bommelaer C, Campana-Salort E, Cances C, Chabrol B et al..  2013.  [Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases].. Revue neurologique. 169:583–594.
Thauvin-Robinet C, Auclair M, Duplomb L, Caron-Debarle M, Avila M, St-Onge J, Le Merrer M, Le Luyer B, Héron D, Mathieu-Dramard M et al..  2013.  PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.. Am J Hum Genet. 93(1):141-9.
Alsafadi S, Even C, Falet C, Goubar A, Commo F, Scott V, Quidville V, Albiges L, Dieci M-V, Guégan J et al..  2013.  Retinoic acid receptor alpha amplifications and retinoic acid sensitivity in breast cancers.. Clin Breast Cancer. 13(5):401-8.
Kergosien YL.  2013.  Reversible adaptive trees.. Acta Biotheor. 61(3):413-24.
Dmitriev P, Barat A, Polesskaya A, O'Connell MJ, Robert T, Dessen P, Walsh TA, Lazar V, Turki A, Carnac G et al..  2013.  Simultaneous miRNA and mRNA transcriptome profiling of human myoblasts reveals a novel set of myogenic differentiation-associated miRNAs and their target genes.. BMC Genomics. 14:265.
Lehembre F, Doillon D, David E, Perrotto S, Baude J, Foulon J, Harfouche L, Vallon L, Poulain J, Da Silva C et al..  2013.  Soil metatranscriptomics for mining eukaryotic heavy metal resistance genes. Environ Microbiol. 15:2829-40.
Navratil V, Pontoizeau C, Billoir E, Blaise BJ.  2013.  SRV: an open-source toolbox to accelerate the recovery of metabolic biomarkers and correlations from metabolic phenotyping datasets. Bioinformatics. 29:1348-9.
de Chassey B\^ıt, Meyniel-Schicklin L, Aublin-Gex A, Navratil V, Chantier T, André P, Lotteau V.  2013.  Structure homology and interaction redundancy for discovering virus-host protein interactions. EMBO Rep. 14:938-44.
Quidville V, Alsafadi S, Goubar A, Commo F, Scott V, Pioche-Durieu C, Girault I, Baconnais S, Le Cam E, Lazar V et al..  2013.  Targeting the deregulated spliceosome core machinery in cancer cells triggers mTOR blockade and autophagy.. Cancer Res. 73(7):2247-58.
Ali A, Bluteau O, Messaoudi K, Palazzo A, Boukour S, Lordier L, Lecluse Y, Rameau P, Kraus-Berthier L, Jacquet-Bescond A et al..  2013.  Thrombocytopenia induced by the histone deacetylase inhibitor abexinostat involves p53-dependent and -independent mechanisms.. Cell Death Dis. 4:e738.
Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T, Guergueltcheva V, Korngut L et al..  2013.  The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.. Human mutation. 34:1449–1457.
Grandval P, Fabre AJ, Gaildrat P, Baert-Desurmont S, Buisine M-P, Ferrari A, Wang Q, BEROUD C, Olschwang S.  2013.  UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families.. Database : the journal of biological databases and curation. 2013:bat036.
2012
Jondeau G, Detaint D, Tubach F, Arnoult F, Milleron O, Raoux F\ccois, Delorme G, Mimoun L, Krapf L, Hamroun D et al..  2012.  Aortic event rate in the Marfan population: a cohort study.. Circulation. 125:226–232.
Arnedos M, Scott V, Job B, De La Cruz J, Commo F, Mathieu MC, Wolp-Diniz R, Richon C, Campone M, Bachelot T et al..  2012.  Array CGH and PIK3CA/AKT1 mutations to drive patients to specific targeted agents: a clinical experience in 108 patients with metastatic breast cancer.. Eur J Cancer. 48(15):2293-9.
Desmet FO, Béroud C.  2012.  Bioinformatics and mutations leading to exon skipping.. Methods in molecular biology (Clifton, N.J.). 867:17–35.
Julien S, Merino-Trigo A, Lacroix L, Pocard M, Goéré D, Mariani P, Landron S, Bigot L, Nemati F, Dartigues P et al..  2012.  Characterization of a large panel of patient-derived tumor xenografts representing the clinical heterogeneity of human colorectal cancer.. Clin Cancer Res. 18(19):5314-28.
Thiollier C, Lopez CK, Gerby B, Ignacimouttou C, Poglio S, Duffourd Y, Guégan J, Rivera-Munoz P, Bluteau O, Mabialah V et al..  2012.  Characterization of novel genomic alterations and therapeutic approaches using acute megakaryoblastic leukemia xenograft models.. J Exp Med. 209(11):2017-31.
Poaty H, Coullin P, Leguern E, Dessen P, Valent A, Afoutou J-M, Peko J-F, Candelier J-J, Gombé-Mbalawa C, Picard J-Y et al..  2012.  [Cytogenomic studies of hydatiform moles and gestational choriocarcinoma].. Bull Cancer. 99(9):827-43.
Caputo S, Benboudjema L, Sinilnikova O, Rouleau E, BEROUD C, Lidereau R, Consortium FBRCAGGC.  2012.  Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.. Nucleic acids research. 40:D992–1002.
Poaty H, Coullin P, Peko JFélix, Dessen P, Diatta ALucien, Valent A, Leguern E, Prévot S, Gombé-Mbalawa C, Candelier J-J et al..  2012.  Genome-wide high-resolution aCGH analysis of gestational choriocarcinomas.. PLoS One. 7(1):e29426.
Senovilla L, Vitale I, Martins I, Tailler M, Pailleret C, Michaud M, Galluzzi L, Adjemian S, Kepp O, Niso-Santano M et al..  2012.  An immunosurveillance mechanism controls cancer cell ploidy.. Science. 337(6102):1678-84.
Galluzzi L, Vitale I, Senovilla L, Eisenberg T, Carmona-Gutierrez D, Vacchelli E, Robert T, Ripoche H, Jägemann N, Paccard C et al..  2012.  Independent transcriptional reprogramming and apoptosis induction by cisplatin.. Cell Cycle. 11(18):3472-80.
Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet J-B, Lopez E, Holman K et al..  2012.  In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.. American journal of human genetics. 91:950–957.
Puget S, Philippe C, Bax DA, Job B, Varlet P, Junier M-P, Andreiuolo F, Carvalho D, Reis R, Guerrini-Rousseau L et al..  2012.  Mesenchymal transition and PDGFRA amplification/mutation are key distinct oncogenic events in pediatric diffuse intrinsic pontine gliomas.. PLoS One. 7(2):e30313.
Humbertclaude V, Hamroun D, Bezzou K, Bérard C, Boespflug-Tanguy O, Bommelaer C, Campana-Salort E, Cances C, Chabrol B, Commare M-C et al..  2012.  Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials.. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 16:149–160.
Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N et al..  2012.  Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.. Human mutation. 33:949–959.
Alexeyenko A, Lee W, Pernemalm M, Guegan J, Dessen P, Lazar V, Lehtiö J, Pawitan Y.  2012.  Network enrichment analysis: extension of gene-set enrichment analysis to gene networks.. BMC Bioinformatics. 13:226.
Faivre L, Collod-Beroud G, Adès L, Arbustini E, Child A, Callewaert BL, Loeys B, Binquet C, Gautier E, Mayer K et al..  2012.  The new Ghent criteria for Marfan syndrome: what do they change? Clinical genetics. 81:433–442.
Galluzzi L, Vitale I, Senovilla L, Olaussen KAndré, Pinna G, Eisenberg T, Goubar A, Martins I, Michels J, Kratassiouk G et al..  2012.  Prognostic impact of vitamin B6 metabolism in lung cancer.. Cell Rep. 2(2):257-69.
Carson C, Omolo B, Chu H, Zhou Y, Sambade MJ, Peters EC, Tompkins P, Simpson DA, Thomas NE, Fan C et al..  2012.  A prognostic signature of defective p53-dependent G1 checkpoint function in melanoma cell lines.. Pigment Cell Melanoma Res. 25(4):514-26.
Laurent-Matha V, Huesgen PF, Masson O, Derocq D, Prébois C, Gary-Bobo M, Lecaille F, Rebière B, Meurice G, Oréar C et al..  2012.  Proteolysis of cystatin C by cathepsin D in the breast cancer microenvironment.. FASEB J. 26(12):5172-81.
Samadi A, Detaint D, Roy C, Arnoult F, Delorme G, Gautier M, Milleron O, Raoux F\ccois, Meuleman C, Hvass U et al..  2012.  Surgical management of patients with Marfan syndrome: evolution throughout the years.. Archives of cardiovascular diseases. 105:84–90.
Blandin G, BEROUD C, Labelle V, Nguyen K, Wein N, Hamroun D, Williams B, Monnier N, Rufibach LE, Urtizberea JAndoni et al..  2012.  UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.. Human mutation. 33:E2317–31.
Byrne M, Fokkema IFac, Lancaster O, Adamusiak T, Ahonen-Bishopp A, Atlan D, BEROUD C, Cornell M, Dalgleish R, Devereau A et al..  2012.  VarioML framework for comprehensive variation data representation and exchange.. BMC bioinformatics. 13:254.
2010
Desmet FO, Hamroun D, Collod-Beroud G, Claustres M.  2010.  Bioinformatics identification of splice site signals and prediction of mutation effects.
Detaint D, Faivre L, Collod-Beroud G, Child AH, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M et al..  2010.  Cardiovascular manifestations in men and women carrying a FBN1 mutation.. European heart journal. 31:2223–2229.
Wang CH, Bönnemann CG, Rutkowski A, Sejersen T, Bellini J, Battista V, Florence JM, Schara U, Schuler PM, Wahbi K et al..  2010.  Consensus statement on standard of care for congenital muscular dystrophies.. Journal of child neurology. :1559–1581.
Humbertclaude V, Tuffery-Giraud S, Bareil C, Thèze C, Paulet D, Desmet FO, Hamroun D, Baux D, Girardet A, Collod-Beroud G et al..  2010.  [Genetic mutation databases: stakes and perspectives for orphan genetic diseases].. Pathologie-biologie. 58:387–395.
Kohonen-Corish MRJ, Al-Aama JY, Auerbach AD, Axton M, Barash CIsaacson, Bernstein I, BEROUD C, Burn J, Cunningham F, Cutting GR et al..  2010.  How to catch all those mutations–the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.. Human mutation. :1374–1381.
Dalgleish R, Flicek P, Cunningham F, Astashyn A, Tully RE, Proctor G, Chen Y, McLaren WM, Larsson P, Vaughan BW et al..  2010.  Locus Reference Genomic sequences: an improved basis for describing human DNA variants.. Genome medicine. 2:24.
Van Kien PKhau, Baux D, Pallares-Ruiz N, Baudoin C, Plancke A, Chassaing N, Collignon P, Drouin-Garraud V, Hovnanian A, Martin-Coignard D et al..  2010.  Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.. Human mutation. 31:E1021–42.
Soussi T, Hamroun D, Hjortsberg L, Rubio-Nevado JMichel, Fournier JLouis, BEROUD C.  2010.  MUT-TP53 2.0: a novel versatile matrix for statistical analysis of TP53 mutations in human cancer.. Human mutation. 31:1020–1025.
Bareil C, Thèze C, BEROUD C, Hamroun D, Guittard C, René C, Paulet D, Georges Mdes, Claustres M.  2010.  UMD-CFTR: a database dedicated to CF and CFTR-related disorders.. Human mutation. 31:1011–1019.
2009
Krahn M, BEROUD C, Labelle V, Nguyen K, Bernard R, Bassez G, Figarella-Branger D, Fernandez C, Bouvenot J, Richard I et al..  2009.  Analysis of the DYSF mutational spectrum in a large cohort of patients.. Human mutation. 30:E345–75.
Faivre L, Masurel-Paulet A, Collod-Beroud G, Callewaert BL, Child AH, Stheneur C, Binquet C, Gautier E, Chevallier B, Huet F et al..  2009.  Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.. Pediatrics. 123:391–398.
Faivre L, Collod-Beroud G, Callewaert B, Child A, Binquet C, Gautier E, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M et al..  2009.  Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.. European journal of human genetics : EJHG. 17:491–501.
Attias D, Stheneur C, Roy C, Collod-Beroud G, Detaint D, Faivre L, Delrue M-A, Cohen L, Francannet C, BEROUD C et al..  2009.  Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.. Circulation. 120:2541–2549.
Frédéric MYana, Monino C, Marschall C, Hamroun D, Faivre L, Jondeau G, Klein H-G, Neumann L, Gautier E, Binquet C et al..  2009.  The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.. Human mutation. 30:181–190.
Tuffery-Giraud S, BEROUD C, Leturcq F, Ben Yaou R, Hamroun D, Michel-Calemard L, Moizard M-P, Bernard R, Cossée M, Boisseau P et al..  2009.  Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.. Human mutation. 30:934–945.
Desmet F\ccois-Olivi, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, BEROUD C.  2009.  Human Splicing Finder: an online bioinformatics tool to predict splicing signals.. Nucleic acids research. 37:e67.
Faivre L, Collod-Beroud G, Callewaert B, Child A, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M et al..  2009.  Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.. American journal of medical genetics. Part A. 149A:854–860.
Frédéric MYana, Lalande M, Boileau C, Hamroun D, Claustres M, BEROUD C, Collod-Beroud G.  2009.  UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity – application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.. Human mutation. 30:952–959.
2007
Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M et al..  2007.  Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.. American journal of human genetics. 81:454–466.
Taulan M, Girardet A, Guittard C, Altieri J-P, Templin C, BEROUD C, Georges Mdes, Claustres M.  2007.  Large genomic rearrangements in the CFTR gene contribute to CBAVD.. BMC medical genetics. 8:22.
BEROUD C, Tuffery-Giraud S, Matsuo M, Hamroun D, Humbertclaude V, Monnier N, Moizard M-P, Voelckel M-A, Calemard LMichel, Boisseau P et al..  2007.  Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.. Human mutation. 28:196–202.
Girardet A, Guittard C, Altieri J-P, Templin C, Stremler N, Béroud C, M Georges des, Claustres M.  2007.  Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements.. Clinical genetics. 72:374–377.
Deburgrave N, Daoud F, Llense S, Barbot JClaude, Récan D, Peccate C, Burghes AHM, BEROUD C, Garcia L, Kaplan J-C et al..  2007.  Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.. Human mutation. 28:183–195.
Krahn M, Pécheux C, Chapon F, Béroud C, Drouin-Garraud V, Laforet P, Romero NB, Penisson-Besnier I, Bernard R, Urtizberea JA et al..  2007.  Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.. Clinical genetics. 72:582–592.
Charbotel B, Gad S, Ca\"ıola D, BEROUD C, Fevotte J, Bergeret A, Ferlicot S, Richard S.  2007.  Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma.. Journal of occupational medicine and toxicology (London, England). 2:13.
2002
Chauveau D, Burckle C, BEROUD C, Correas J-M, Duclos J-M, Michel P, Richard S, Grünfeld J-P.  2002.  Diagnosis of pheochromocytoma and laparoscopic adrenalectomy in two anephric patients with von Hippel-Lindau disease.. American journal of kidney diseases : the official journal of the National Kidney Foundation. 39:E6.
Vona G, BEROUD C, Benachi A, Quenette A, Bonnefont JPaul, Romana S, Dumez Y, Lacour B, Paterlini-Bréchot P.  2002.  Enrichment, immunomorphological, and genetic characterization of fetal cells circulating in maternal blood.. The American journal of pathology. 160:51–58.
Wautot V, Vercherat C, Lespinasse J, Chambe B, Lenoir GM, Zhang CX, Porchet N, Cordier M, BEROUD C, Calender A.  2002.  Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.. Human mutation. 20:35–47.
Simonnet H, Alazard N, Pfeiffer K, Gallou C, BEROUD C, Demont J, Bouvier R, Schägger H, Godinot C.  2002.  Low mitochondrial respiratory chain content correlates with tumor aggressiveness in renal cell carcinoma.. Carcinogenesis. 23:759–768.
Dollfus H, Massin P, Taupin P, Nemeth C, Amara S, Giraud S, BEROUD C, Dureau P, Gaudric A, Landais P et al..  2002.  Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.. Investigative ophthalmology {&} visual science. 43:3067–3074.
Villéger L, Abifadel M, Allard D, Rabès J-P, Thiart R, Kotze MJ, BEROUD C, Junien C, Boileau C, Varret M.  2002.  The UMD-LDLR database: additions to the software and 490 new entries to the database.. Human mutation. 20:81–87.
1998
Laurent-Puig P, Béroud C, Soussi T.  1998.  APC gene: database of germline and somatic mutations in human tumors and cell lines.. Nucleic acids research. 26:269–270.
Varret M, Rabés JP, Thiart R, Kotze MJ, Baron H, Cenarro A, Descamps O, Ebhardt M, Hondelijn JC, Kostner GM et al..  1998.  LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis.. Nucleic acids research. 26:248–252.
Collod-Beroud G, Béroud C, Adès L, Black C, Boxer M, Brock DJ, Holman KJ, De Paepe A, Francke U, Grau U et al..  1998.  Marfan Database (third edition): new mutations and new routines for the software.. Nucleic acids research. 26:229–223.
Béroud C, Soussi T.  1998.  p53 gene mutation: software and database.. Nucleic acids research. 26:200–204.
Jeanpierre C, Béroud C, Niaudet P, Junien C.  1998.  Software and database for the analysis of mutations in the human WT1 gene.. Nucleic acids research. 26:271–274.
Béroud C, Joly D, Gallou C, Staroz F, Orfanelli MT, Junien C.  1998.  Software and database for the analysis of mutations in the VHL gene.. Nucleic acids research. 26:256–258.
Richard S, Giraud S, Hammel P, Béroud C, Joly D, Olschwang S, Resche F.  1998.  [Von Hippel-Lindau disease: a hereditary disease that impacts multiple tissues].. Presse médicale (Paris, France : 1983). 27:1112–1120.
Richard S, Béroud C, Joly D, Chretien Y, Benoit G.  1998.  [Von Hippel-Lindau disease and renal cancer: 10 years of genetic progress. GEFVHL (French-Speaking Study Group on von Hippel-Lindau disease)].. Progrès en urologie : journal de l'Association fran{\c c}aise d'urologie et de la Société fran{\c c}aise d'urologie. 8:330–339.
Richard S, Giraud S, Béroud C, Caron J, Penfornis F, Baudin E, Niccoli-Sire P, Murat A, Schlumberger M, Plouin PF et al..  1998.  [Von Hippel-Lindau disease: recent genetic progress and patient management. Francophone Study Group of von Hippel-Lindau Disease (GEFVH)].. Annales d'endocrinologie. 59:452–458.

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