2024

Amélie Roehrig, Theo Z Hirsch, Aurore Pire, Guillaume Morcrette, Barkha Gupta, Charles Marcaillou, Sandrine Imbeaud, Christophe Chardot, Emmanuel Gonzales, Emmanuel Jacquemin, Masahiro Sekiguchi, Junko Takita, Genta Nagae, Eiso Hiyama, Florent Guérin, Monique Fabre, Isabelle Aerts, Sophie Taque, Véronique Laithier, Sophie Branchereau, Catherine Guettier, Laurence Brugières, Brice Fresneau, Jessica Zucman-Rossi, Eric Letouzé, Single-cell multiomics reveals the interplay of clonal evolution and cellular plasticity in hepatoblastoma. Nat Commun. 2024 Apr 8;15(1):3031. doi: 10.1038/s41467-024-47280-x .

Modibo Diallo, Cécile Courdier,Elina Mercier, Angèle Sequeira, Alicia Defay-Stinat, Claudio Plaisant, Shahram Mesdaghi, Daniel Rigden, Sophie Javerzat, Eulalie Lasseaux, Laetitia Bourgeade, Séverine Audebert-Bellanger, Hélène Dollfus, Smail Hadj-Rabia, Fanny Morice-Picard, Manon Philibert, Mohamed Kole Sidibé, Vasily Smirnov, Ousmane Sylla, Vincent Michaud, Benoit Arveiler, Functional Characterization of Splice Variants in the Diagnosis of Albinism. Int J Mol Sci. 2024 Aug 8;25(16):8657. doi: 10.3390/ijms25168657

2022

Maxime Meylan, Florent Petitprez, Etienne Becht, Antoine Bougoüin, Guilhem Pupier, Anne Calvez, Ilenia Giglioli, Virginie Verkarre, Guillaume Lacroix, Johanna Verneau, Chen-Ming Sun, Pierre Laurent-Puig, Yann-Alexandre Vano, Reza Elaïdi, Arnaud Méjean, Rafaël Sanchez-Salas, Eric Barret, Xavier Cathelineau, Stephane Oudard, Claude-Agnès Reynaud, Aurélien de Reyniès, Catherine Sautès-Fridman, Wolf Herman Fridman, Tertiary lymphoid structures generate and propagate anti-tumor antibody-producing plasma cells in renal cell cancer. Immunity, Volume 55, Issue 3, February 28, 2022, https://doi.org/10.1016/j.immuni.2022.02.001.

Karim Harhouri, Pierre Cau, Frank Casey, Koffi Mawuse Guedenon, Yassamine Doubaj, Lionel Van Maldergem, Gerardo Mejia-Baltodano, Catherine Bartoli, Annachiara De Sandre-Giovannoli, Nicolas Lévy., MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients’ Cells. Cells. 2022; 11(4):610. https://doi.org/10.3390/cells11040610

Alexandre Perrat, Priscilla Branchu, Anouk Decors, Silvia Turci, Marie-Hélène Bayon-Auboyer, Geoffrey Petit, Vladimir Grosbois, Hubert Brugère, Frédéric Auvray, and Eric Oswald, Wild Boars as Reservoir of Highly Virulent Clone of Hybrid Shiga Toxigenic and Enterotoxigenic Escherichia coli Responsible for Edema Disease, France. Emerging Infectious Diseases. 2022;28(2):382-393. doi:10.3201/eid2802.211491.

2021

Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Florence Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L , Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B,  Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N , Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, Melki J. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. J Med Genet 2021;0:1–9. doi:10.1136/jmedgenet-2020-107595

Z Hirsch T, Pilet J, Morcrette G, Roehrig A, JE Monteiro B, Molina L, Bayard Q, Trepo E, Meunier L, Caruso S, Renault V, Deleuze JF,  Fresneau B, Chardot C, Gonzales E, Jacquemin E,  Guerin F, Fabre M, Aerts I, Taque S, Laithier V, Branchereau S, Guettier C, Brugieres L, Rebouissou S, Letouze E and Zucman-Rossi J. Integrated genomic analysis identifies driver genes and cisplatin-resistant progenitor phenotype in pediatric liver cancer. American Association for Cancer Research 2021 April 23. doi: 10.1158/2159-8290.CD-20-1809

Christina Zeitz, Cécile Méjécase, Christelle Michiels, Christel Condroyer, Juliette Wohlschlegel, marine Foussard, Aline Antonio, Vanessa Démontant, Lisa Emmenegger, Audrey Schalk, Marion Neuillé, Elise Orhan, Sébastien Augustin, Crystel Bonnet, Amrit Estivalet, Frédéric Blond, Steven Blanchard, Camille Andrieu, Sandra Chantot-Bastaraud, Thierry Léveillard, Saddek Mohand-Saïd, Joé-Alain Sahel, Isabelle Audo,Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy. Int. J. Mol. Sci. 2021, 22(15), 7875; https://doi.org/10.3390/ijms22157875

Camille V. Chagneau ,Clémence Massip ,Nadège Bossuet-Greif,Christophe Fremez,Jean-Paul Motta,Ayaka Shima,Céline Besson,Pauline Le Faouder,Nicolas Cénac,Marie-Paule Roth,Hélène Coppin,Maxime Fontanié,Patricia Martin,Jean-Philippe Nougayrède ,Eric Oswald. Uropathogenic E. coli induces DNA damage in the bladder. PLoS Pathog 17(2): e1009310

Mournetas V, Massouridès E, Dupont JB, Kornobis E, Polvèche H, Jarrige M, R.L. Dorval A, R.F. Gosselin M, Manousopoulou A, D. Garbis S, C. Górecki D, Pinset C. Myogenesis modelled by human pluripotent stem cells: a multi‐omic study of Duchenne myopathy early onset. Journal of Cachexia, Sarcopenia and Muscle 2021; 12: 209–232

Malgorzata Marta Drozd, Maria Capovilla, Carlo Previderé, Mauro Grossi, Florence Askenazy, Barbara Bardoni, Arnaud Fernandez,A Pilot Study on Early-Onset Schizophrenia Reveals the Implication of Wnt, Cadherin and Cholecystokinin Receptor Signaling in Its Pathophysiology. Front. Genet., 17 December 2021

Anaïs Le Nabec, Mégane Collobert, Cédric Le Maréchal, Rémi Marianowski, Claud Férec, Stéphanie Moisan,Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients. Genes 2021, 12(8), 1267; https://doi.org/10.3390/genes12081267

2020

Sanson M, Vu Hong A, Massourides E, Bourg N, Suel L, Amor F, Corre G, Bénit P, Barthélémy I, Blot S, Bigot A, Pinset C, Rustin P, Servais L, Voit T, Richard I, Israeli D. miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy. Sci Rep. 2020 Jun 4;10(1):9139. doi: 10.1038/s41598-020-66016-7.

2019

Zeitz C, Michiels C, Neuillé M , Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X , Casteels I , de Ravel TJ , Balikova I, K Koenekoop R, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, 0, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel J , Audo I. Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders. Hum Mutat. 2019 Mar 2. doi: 10.1002/humu.23735

Rospo G Lorenzato A, Amirouchene-Angelozzi N, Magrì A, Cancelliere C, Corti G, Negrino C, Amodio V, Montone M, Bartolini A, Barault L, Novara L, Isella C, Medico E, Bertotti A, Trusolino L, Germano G, Di Nicolantonio F, Bardelli A. Evolving neoantigen profiles in colorectal cancers with DNA repair defects.Genome Med. 2019 Jun 28;11(1):42. doi: 10.1186/s13073-019-0654-6.

2018

Siravegna G, Lazzari L, Crisafulli G, Sartore-Bianchi A, Mussolin B, Cassingena A, Martino C, Lanman RB, Nagy RJ, Fairclough S, Rospo G, Corti G, Bartolini A, Arcella P, Montone M, Lodi F, Lorenzato A, Vanzati A, Valtorta E, Cappello G, Bertotti A, Lonardi S, Zagonel V, Leone F, Russo M, Balsamo A, Truini M, Di Nicolantonio F, Amatu A, Bonazzina E, Ghezzi S, Regge D, Vanzulli A, Trusolino L, Siena S, Marsoni S, Bardelli A. Radiologic and genomic evolution of individual metastases during HER2 blockade in colorectal cancer. Cancer Cell. 2018; 34:148-162.e7. doi: 10.1016/j.ccell.2018.06.004.

Lomberk G, Blum Y, Nicolle R, Nair A, Gaonkar KS, Marisa L, Mathison A, Sun Z, Yan H, Elarouci N, Armenoult L, Ayadi M, Ordog T, Lee JH, Oliver G, Klee E, Moutardier V, Gayet O, Bian B, Duconseil P, Gilabert M, Bigonnet M, Garcia S, Turrini O, Delpero JR, Giovannini M, Grandval P, Gasmi M, Secq V, De Reyniès A, Dusetti N, Iovanna J, Urrutia R. Distinct epigenetic landscapes underlie the pathobiology of pancreatic cancer subtypes. Nat Commun. 2018 May 17;9(1):1978. doi: 10.1038/s41467-018-04383-6.

Debiec H, Dossier C, Letouzé E, Gillies CE, Vivarelli M, Putler RK, Ars E, Jacqz-Aigrain E, Elie V, Colucci M, Debette S, Amouyel P, Elalaoui SC, Sefiani A, Dubois V, Simon T, Kretzler M, Ballarin J, Emma F, Sampson MG, Deschênes G, Ronco P. Transethnic, genome-wide analysis reveals immune-related risk alleles and phenotypic correlates in pediatric steroid-sensitive nephrotic syndrome. J Am Soc Nephrol. 2018 Jun 14. pii: ASN.2017111185. doi: 10.1681/ASN.2017111185.

Russo M, Lamba S, Lorenzato A, Sogari A, Corti G, Rospo G, Mussolin B, Montone M, Lazzari L, Arena S, Oddo D, Linnebacher M, Sartore-Bianchi A, Pietrantonio F, Siena S, Di Nicolantonio F, Bardelli A. Reliance upon ancestral mutations is maintained in colorectal cancers that heterogeneously evolve during targeted therapies. Nat Commun. 2018; 9:2287. doi: 10.1038/s41467-018-04506-z.

Méjécase C, Hummel A, Mohand-Saïd S, Andrieu C, El Shamieh S, Antonio A, Condroyer C, Boyard F1, Foussard M, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Zeitz C, Audo I. Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy. Clin Genet. 2019 Feb.95(2):329-333. doi: 10.1111/cge.13453. Epub 2018 Nov 4.

Lehmann-Che J, Bally C, Letouzé E, Berthier C, Yuan H, Jollivet F, Ades L, Cassinat B, Hirsch P, Pigneux A, Mozziconacci MJ, Kogan S, Fenaux P, de Thé H. Dual origin of relapses in retinoic-acid resistant acute promyelocytic leukemia. Nat Commun. 2018 May 24;9(1):2047. doi: 10.1038/s41467-018-04384-5.

2017

Nicolle R, Blum Y, Marisa L, Loncle C, Gayet O, Moutardier V, Turrini O, Giovannini M, Bian B, Bigonnet M, Rubis M, Elarouci N, Armenoult L, Ayadi M, Duconseil P, Gasmi M, Ouaissi M, Maignan A, Lomberk G, Boher JM, Ewald J, Bories E, Garnier J, Goncalves A, Poizat F, Raoul JL, Secq V, Garcia S, Grandval P, Barraud-Blanc M, Norguet E, Gilabert M, Delpero JR, Roques J, Calvo E, Guillaumond F, Vasseur S, Urrutia R, de Reyniès A, Dusetti N, Iovanna J. Pancreatic adenocarcinoma therapeutic targets revealed by tumor-stroma cross-talk analyses in patient-derived xenografts. Cell Rep. 2017 Nov 28;21(9):2458-2470. doi: 10.1016/j.celrep.2017.11.003.

Bian B, Bigonnet M, Gayet O, Loncle C, Maignan A, Gilabert M, Moutardier V, Garcia S, Turrini O, Delpero JR, Giovannini M, Grandval P, Gasmi M, Ouaissi M, Secq V, Poizat F, Nicolle R, Blum Y, Marisa L, Rubis M, Raoul JL, Bradner JE, Qi J, Lomberk G, Urrutia R, Saul A, Dusetti N, Iovanna J. Gene expression profiling of patient-derived pancreatic cancer xenografts predicts sensitivity to the BET bromodomain inhibitor JQ1: implications for individualized medicine efforts. EMBO Mol Med. 2017 Apr;9(4):482-497. doi: 10.15252/emmm.201606975.

Germano G, Lamba S, Rospo G, Barault L, Magrì A, Maione F, Russo M, Crisafulli G, Bartolini A, Lerda G, Siravegna G, Mussolin B, Frapolli R, Montone M, Morano F, de Braud F, Amirouchene-Angelozzi N, Marsoni S, D’Incalci M, Orlandi A, Giraudo E, Sartore-Bianchi A, Siena S, Pietrantonio F, Di Nicolantonio F, Bardelli A. Inactivation of DNA repair triggers neoantigen generation and impairs tumour growth. Nature. 2017; 552:116-20. doi: 10.1038/nature24673. Epub 2017 Nov 29.

Letouzé E, Shinde J, Renault V, Couchy G, Blanc JF, Tubacher E, Bayard Q, Bacq D, Meyer V, Semhoun J, Bioulac-Sage P1, Prévôt S, Azoulay D, Paradis V, Imbeaud S, Deleuze JF, Zucman-Rossi J. Mutational signatures reveal the dynamic interplay of risk factors and cellular processes during liver tumorigenesis. Nat Commun. 2017; 8:1315. doi: 10.1038/s41467-017-01358-x.

Koeppel F, Blanchard S, Jovelet C, Genin B, Marcaillou C, Martin E, Rouleau E, Solary E, Soria JC, André E, Lacroix L. Whole exome sequencing for determination of tumor mutation load in liquid biopsy from advanced cancer patients. PLOS One. November 21, 2017. https://doi.org/10.1371/journal.pone.0188174

Machado L, Esteves de Lima J, Fabre O, Proux C, Legendre R, Szegedi A, Varet H, Roed Ingerslev L, Barrès R, Relaix F, Mourikis P. In Situ Fixation Redefines Quiescence and Early Activation of Skeletal Muscle Stem Cells. CELL Report. November 2017, doi: 10.1016/j.celrep.2017.10.080

2016

Grandemange S,Sanchez E, Louis-Plence P, Tran Mau-Them F, Bessis D, Coubes C, Frouin E, Seyger M, Girard M, Puechberty J, Costes V, Rodière M, Carbasse A, Jeziorski E, Portales P, Sarrabay G, Mondain M, Jorgensen C, Apparailly F, Hoppenreijs E, Touitou I, Geneviève D. A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis). Ann Rheum Dis annrheumdis-2016-210021, Published Online First: 13 December 2016, doi:10.1136

Plassais J , Lagoutte L , Correard S ,Paradis M, Guaguère E, Hédan B, Pommier A, Botherel N, Cadiergues MC , Pilorge P , Silversides D, Bizot M, Samuels M, Arnan C, Johnson R, Hitte C, Salbert G, Méreau A, Quignon P, Derrien T, André C A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies. Special Issue on Cancer Genomics. 2016; doi.org/10.1371/journal.pgen.1006482

Poggi M, Canault M, Favier M, Turro E, Saultier P, Ghalloussi D, Baccini V, Vidal L, Mezzapesa A, Chelghoum N, Mohand-Oumoussa B, Falaise CL, Favier R, Ouwehand WH, Fiore M, Peiretti F, Morange PE, Saut N, Bernot D, Greinacher A, Nurden AT, Nurden P, Freson K, Trégouët DA, Raslova H, Alessi MC. Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors. Haematologica. 2016 Sep 23.Doi:10.3324/haematol.2016.147694.

Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, M Lefèvre G, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria M.A, Catala Mora J, Dad S, B Møller L, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel J.A, Marlin S, Zrenner E, Audo I. and Petit C. An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. European Journal of Human Genetics. 2016; doi: 10.1038/ejhg.2016.99.

Kamoun A, Idbaih A, Dehais C, Elarouci N, Carpentier C, Letouzé E, Colin C, Mokhtari K, ouvet A, Uro-Coste E, Martin-Duverneuil N, MSanson M, Delattre JY, Figarella-Branger D, de Reyniès A, Ducray F, POLA network. Integrated multi-omics analysis of oligodendroglial tumours identifies three subgroups of 1p/19q co-deleted gliomas. Nat Commun. 2016; 7: 11263. Published online 2016 Apr 19. doi: 10.1038/ncomms11263

Hirsch P, Zhang Y, Tang R, Joulin V, Boutroux H, Pronier E, Moatti H, Flandrin P, Marzac C, Bories D, Fava F, Mokrani H, Betems A, Lorre F, Favier R, Féger F, Mohty M, Douay L, Legrand O, Bilhou-Nabera C, Louache F, Delhommeau F. Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia. Nat Commun. 2016; 7:12475. doi: 10.1038/ncomms12475.

Fiore M, Goulas C, Pillois X. A new mutation in TUBB1 associated with thrombocytopenia confirms that C-terminal part of β1-tubulin plays a role in microtubule assembly. Clin Genet. 2016. OI: 10.1111/cge.12879

Neuillé M, Malaichamy S, Vadalà M, Michiels C, Condroyer C, Sachidanandam R, Srilekha S, Arokiasamy T, Letexier M, Démontant V, Sahel JA, Sen P, Audo I, Soumittra N, Zeitz C. Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness (CSNB). Clin Genet. 2016 Jan 29. doi: 10.1111/cge.12746.

Chassaing N, Davis EE, McKnight KL, Niederriter AR, Causse A, David V, Desmaison A, Lamarre S, Vincent-Delorme C, Pasquier L, Coubes C, Lacombe D, Rossi M, Dufier JL, Dollfus H, Kaplan J, Katsanis N, Etchevers HC, Faguer S, Calvas P. Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network, Genome Res. 2016; doi: 10.1101/gr.196048.115.

Fauchereau F, Shalev S, Chervinsky E, Beck-Fruchter R, Legois B, Fellous M, Caburet S, Veitia RA., A non-sense MCM9 mutation in a familial case of primary ovarian insuficiency. Clin Genet 2016. © John Wiley & Sons A/S. Published by John Wiley & Sons Ltd, 2016.

2015

Boillot M, Morin-Brureau M, Picard F, Weckhuysen S, Lambrecq V, Minetti C, Striano P, Zara F, Lacomino M, Ishida S, An-Gourfinkel I, Daniau M, Hardies K, Baulac M, Dulac O, Leguern E, Nabbout R, Baulac S. Novel GABRG2 mutations cause familial febrile seizures, Neurology Genetics. 2015; 1:e35; doi: 10.1212/NXG.0000000000000035

Piqueret-Stephan L, Marcaillou C, Reyes C, Honoré A, Letexier M, Gentien D, Droin N, Lacroix L, Scoazec JY, Vielh P. Massively parallel DNA sequencing from routinely processed cytological smears. Cancer Cytopathology ; 2015 Oct 27, doi : 10.1002/cncy.21639

Caye A, Strullu M, Guidez F, Cassinat B, Gazal S, Fenneteau O, Lainey E, Nouri K, Nakhaei-Rad S, Dvorsky R, Lachenaud J, Pereira S, Vivent J, Verger E, Vidaud D, Galambrun C, Picard C, Petit A, Contet A, Poirée M, Sirvent N, Méchinaud F, Adjaoud D, Paillard C, Nelken B, Reguerre Y, Bertrand Y, Häussinger D, Dalle JH, Ahmadian MR, Baruchel A, Chomienne C, Cavé H. Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network. Nat Genet. 2015 Oct 12. doi: 10.1038/ng.3420.

Nault JC, Datta S, Imbeaud S, Franconi A, Mallet M, Couchy G, Letouzé E, Pilati C, Verret B, Blanc JF, Balabaud C, Calderaro J, Laurent A, Letexier M, Bioulac-Sage P, Calvo F, Zucman-Rossi J. Recurrent AAV2-related insertional mutagenesis in human hepatocellular carcinomas. Nat Genet. 2015 Aug 24. doi: 10.1038/ng.3389.

Boucret L, Chao de la Barca JM, Morinière C, Desquiret V, Ferré-L’Hôtellier V, Descamps P, Marcaillou C, Reynier P, Procaccio V, May-Panloup P. Relationship between diminished ovarian reserve and mitochondrial biogenesis in cumulus cells. Hum Reprod. 2015 Jul;30(7):1653-64. doi: 10.1093/humrep/dev114.

Boulanger-Scemama E, El Shamieh S, Démontant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva JP, Letexier M, Souied E, Mohand-Saïd S, Sahel JA, Zeitz C, Audo I. Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. Orphanet J Rare Dis. 2015 Jun 24;10(1):85.

Huckert M, Stoetzel C, Morkmued S, Laugel-Haushalter V, Geoffroy V, Muller J, Clauss F, Prasad MK, Obry F, Raymond JL, Switala M, Alembik Y, Soskin S, Mathieu E, Hemmerlé J, Weickert JL, Dabovic BB, Rifkin DB, Dheedene A, Boudin E, Caluseriu O, Cholette MC, Mcleod R, Antequera R, Gellé MP, Coeuriot JL, Jacquelin LF, Bailleul-Forestier I, Manière MC, Van Hul W, Bertola D, Dollé P, Verloes A, Mortier G, Dollfus H, Bloch-Zupan A. Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. Hum Mol Genet. 2015 Jun 1; 24(11): 3038–3049. doi: 10.1093/hmg/ddv053.

Schulze K, Imbeaud S, Letouzé E, Alexandrov LB, Calderaro J, Rebouissou S, Couchy G, Meiller C, Shinde J, Soysouvanh F, Calatayud AL, Pinyol R, Pelletier L, Balabaud C, Laurent A, Blanc JF, Mazzaferro V, Calvo F, Villanueva A, Nault JC, Bioulac-Sage P, Stratton MR, Llovet JM, Zucman-Rossi J. Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets. Nat Genet. 2015 May;47(5):505-11. doi: 10.1038/ng.3252.

Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle M-A, Milh M, Toutain A, Bacq D, Meyer V, Afenjar A, Deleuze J-F, Brice A, Héron D, Stevanin G, and Durr A, GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. Neurology. ; 2015 April ;84:1–9

Patten SA, Margaritte-Jeannin P, Bernard JC, Alix E, Labalme A, Besson A, Girard SL, Fendri K, Fraisse N, Biot B, Poizat C, Campan-Fournier A, Abelin-Genevois K, Cunin V, Zaouter C, Liao M, Lamy R, Lesca G, Menassa R, Marcaillou C, Letexier M, Sanlaville D, Berard J, Rouleau GA, Clerget-Darpoux F, Drapeau P, Moldovan F, Edery P. Functional variants of POC5 identified in patients with idiopathic scoliosis. J Clin Invest. 2015 Mar 2;125(3):1124-8. doi: 10.1172/JCI77262.

Riahi Z, Bonnet C, Zainine R, Lahbib S, Bouyacoub Y, Bechraoui R, Marrakchi J, Hardelin JP, Louha M, Largueche L, Ben Yahia S, Kheirallah M, Elmatri L, Besbes G, Abdelhak S, Petit C. Whole exome sequencing identifies mutations in usher syndrome genes in profoundly deaf tunisian patients. PLoS One. 2015 Mar 23;10(3):e0120584. doi: 10.1371/journal.pone.0120584.

El Shamieh S, Boulanger-Scemama E, Lancelot ME, Antonio A, Démontant V, Condroyer C, Letexier M, Saraiva JP, Mohand-Saïd S, Sahel JA, Audo I, Zeitz C. Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy. Biomed Res Int. 2015;2015:485624. doi: 10.1155/2015/485624. Epub 2015 Jan 6.

Lossos A, Stümpfig C, Stevanin G, Gaussen M, Zimmerman B, Mundwiller E,Asulin M, Chamma L, Sheffer R, Misk A, Dotan S, M. Gomori J, Ponger P, Brice A, Lerer I, Meiner V, Lill R. Fe/S protein assembly gene IBA57mutation causes hereditary spastic paraplegia. Neurology ; 2015 Jan ; doi: 10.1212/WNL.001270.

2014

Mathieu Barbier, Marie-Sylvie Gross, Mélodie Aubart, Nadine Hanna, Ketty Kessler, Dong-Chuan Guo, Laurent Tosolini, Benoit Ho-Tin-Noe, Ellen Regalado, Mathilde Varret, Marianne Abifadel, Olivier Milleron, Sylvie Odent, Sophie Dupuis-Girod, Laurence Faivre, Thomas Edouard,Yves Dulac,Tiffany Busa, Laurent Gouya, Dianna M. Milewicz, Guillaume Jondeau, and Catherine Boileau. MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections, Am. J Hum Genet. 2014 Dec 4; 95(6): 736–743.doi:10.1016/j.ajhg.2014.10.018.

Dorboz I, Lainé J, Stevanin G, Bonne G, Boespflug-Tanguy O ,Servais L, Coutelier M, T Bertrand A, J Caberg J-H, Elaleh-Bergès M. Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1; Orphanet Journal of Rare Diseases 2014, 9:174 doi:10.1186/s13023-014-0174-9

Auclair G, Guibert S, Bender A, Weber M. Ontogeny of CpG island methylation and specificity of DNMT3 methyltransferases during embryonic development in the mouse. Genome Biol. 2014 Dec 3;15(12):545.

Persoons A, Morin E, Delaruelle C, Payen T, Halkett F, Frey P, De Mita S, Duplessis S. Patterns of genomic variation in the poplar rust fungus Melampsora larici-populina identify pathogenesis-related factors. Front Plant Sci. 2014 Sep 15;5:450. doi: 10.3389/fpls.2014.00450.

Pernaci M, De Mita S, Andrieux A, Pétrowski J, Halkett F, Duplessis S, Frey P. Genome-wide patterns of segregation and linkage disequilibrium: the construction of a linkage genetic map of the poplar rust fungus Melampsora larici-populina. Front Plant Sci. 2014 Sep 10;5:454. doi: 10.3389/fpls.2014.00454

Strullu M, Caye A, Lachenaud J, Cassinat B, Gazal S, Fenneteau O, Pouvreau N, Pereira S, Baumann C, Contet A, Sirvent N, Méchinaud F, Guellec I, Adjaoud D, Paillard C, Alberti C, Zenker M, Chomienne C, Bertrand Y, Baruchel A, Verloes A, Cavé H. Juvenile myelomonocytic leukaemia and Noonan syndrome. J Med Genet. 2014 Oct;51(10):689-97. doi: 10.1136/jmedgenet-2014-102611.

Pepermans E, Michel V, Goodyear R, Bonnet C, Abdi S, Dupont T, Gherbi S, Holder M, Makrelouf M, Hardelin JP, Marlin S, Zenati A, Richardson G, Avan P, Bahloul A, Petit C. The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells. EMBO Mol Med. 2014 Jun 17;6(7):984-92. doi: 0.15252/emmm.201403976.

Riahi Z, Bonnet C, Zainine R, Louha M, Bouyacoub Y, Laroussi N, Chargui M, Kefi R, Jonard L, Dorboz I, Hardelin JP, Salah SB, Levilliers J, Weil D, McElreavey K, Boespflug OT, Besbes G, Abdelhak S, Petit C. Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness. PLoS One. 2014 Jun 13;9(6):e99797. doi: 10.1371/journal.pone.0099797.

Behlouli A, Bonnet C, Abdi S, Bouaita A, Lelli A, Hardelin JP, Schietroma C, Rous Y, Louha M, Cheknane A, Lebdi H, Boudjelida K, Makrelouf M, Zenati A, Petit C. EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness. Orphanet J Rare Dis. 2014 Apr 17;9:55. doi: 10.1186/1750-1172-9-55.

El Shamieh S, Neuillé M, Terray A, Orhan E, Condroyer C, Démontant V, Michiels C, Antonio A, Boyard F, Lancelot ME, Letexier M, Saraiva JP, Léveillard T, Mohand-Saïd S, Goureau O, Sahel JA, Zeitz C, Audo I. Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy. Am J Hum Genet. 2014 Apr 3;94(4):625-33. doi: 10.1016/j.ajhg.2014.03.005.

Scheidecker S, Etard C, Pierce NW, Geoffroy V, Schaefer E, Muller J, Chennen K, Flori E, Pelletier V, Poch O, Marion V, Stoetzel C, Strähle U, Nachury MV, Dollfus H. Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). J Med Genet. 2014 Feb;51(2):132-6. doi: 10.1136/jmedgenet-2013-101785. Epub 2013 Sep 11.

Audo I, Bujakowska K, Orhan E, El Shamieh S, Sennlaub F, Guillonneau X, Antonio A, Michiels C, Lancelot ME, Letexier M, Saraiva JP, Nguyen H, Luu TD, Léveillard T, Poch O, Dollfus H, Paques M, Goureau O, Mohand-Saïd S, Bhattacharya SS, Sahel JA, Zeitz C. The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family. Hum Mol Genet. 2014 Jan 15;23(2):491-501. doi: 10.1093/hmg/ddt439.

2013

Boukhris A, Schule R, Loureiro JL, Lourenço CM, Mundwiller E, Gonzalez MA, Charles P, Gauthier J, Rekik I, Acosta Lebrigio RF, Gaussen M, Speziani F, Ferbert A, Feki I, Caballero-Oteyza A, Dionne-Laporte A, Amri M, Noreau A, Forlani S, Cruz VT, Mochel F, Coutinho P, Dion P, Mhiri C, Schols L, Pouget J, Darios F, Rouleau GA, Marques W Jr, Brice A, Durr A, Zuchner S, Stevanin G. Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. Am J Hum Genet. 2013 Jul 11;93(1):118-23. doi: 10.1016/j.ajhg.2013.05.006.

Bonnet C, Louha M, Loundon N, Michalski N, Verpy E, Smagghe L, Hardelin JP, Rouillon I, Jonard L, Couderc R, Gherbi S, Garabedian EN, Denoyelle F, Petit C, Marlin S. Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment. Gene. 2013 Sep 25;527(2):537-40. doi: 10.1016/j.gene.2013.06.044.

Jung AC, Job S, Ledrappier S, Macabre C, Abecassis J, de Reyniès A, Wasylyk B. A poor prognosis subtype of HNSCC is consistently observed across methylome, transcriptome, and miRNome analysis. Clin Cancer Res. 2013 Aug 1;19(15):4174-84. doi: 10.1158/1078-0432.CCR-12-3690.

Letouzé E, Martinelli C, Loriot C, Burnichon N, Abermil N, Ottolenghi C, Janin M, Menara M, Nguyen AT, Benit P, Buffet A, Marcaillou C, Bertherat J, Amar L, Rustin P, De Reyniès A, Gimenez-Roqueplo AP, Favier J. SDH mutations establish a hypermethylator phenotype in paraganglioma. Cancer Cell. 2013 Jun 10;23(6):739-52. doi: 10.1016/j.ccr.2013.04.018.

Ishida S, Picard F, Rudolf G, Noé E, Achaz G, Thomas P, Genton P, Mundwiller E, Wolff M, Marescaux C, Miles R, Baulac M, Hirsch E, Leguern E, Baulac S. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat Genet. 2013 Mar 31. doi: 10.1038/ng.2601.

Itzykson R, Kosmider O, Renneville A, Morabito M, Preudhomme C, Berthon C, Adès L, Fenaux P, Platzbecker U, Gagey O, Rameau P, Meurice G, Oréar C, Delhommeau F, Bernard OA, Fontenay M, Vainchenker W, Droin N, Solary E. Clonal architecture of chronic myelomoncytic leukemias. Blood. 2013 Mar 21;121(12):2186-98. doi: 10.1182/blood-2012-06-440347. Epub 2013 Jan 14.

Pasquet M, Bellanné-Chantelot C, Tavitian S, Prade N, Beaupain B, Larochelle O, Petit A, Rohrlich P, Ferrand C, Van Den Neste E, Poirel HA, Lamy T, Ouachée-Chardin M, Mansat-De Mas V, Corre J, Récher C, Plat G, Bachelerie F, Donadieu J, Delabesse E. High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood. 2013 Jan 31;121(5):822-9. doi: 10.1182/blood-2012-08-447367.

Schluth-Bolard C, Labalme A, Cordier MP, Till M, Nadeau G, Tevissen H, Lesca G, Boutry-Kryza N, Rossignol S, Rocas D, Dubruc E, Edery P, Sanlaville D. Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations. J Med Genet. 2013 Mar;50(3):144-50. doi: 10.1136/jmedgenet-2012-101351.

Nicolas G, Pottier C, Maltête D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Maréchal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frébourg T, Hannequin D, Campion D. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology. 2013 Jan 8;80(2):181-7

2012

Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, Robinson PN, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Rivière JB, Boileau C, De Paepe A, Faivre L. In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome, Am J Hum Genet. 2012 Nov 2;91(5):950-7. doi: 10.1016/j.ajhg.2012.10.002.

Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C. Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. Transl Psychiatry. 2012 Oct 23;2:e179. doi: 10.1038/tp.2012.102.

Zeitz C, Jacobson SG, Hamel CP, Bujakowska K, Neuillé M, Orhan E, Zanlonghi X, Lancelot ME, Michiels C, Schwartz SB, Bocquet B. Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness. Am J Hum Genet. 2012 Dec 11. doi:pii: S0002-9297(12)00584-8. 10.1016/j.ajhg.2012.10.023.

Gonzalez-Aguilar et al., Recurrent mutations of MYD88 and TBL1XR1 in primary central nervous system lymphomas. Clin Cancer Res. 2012 Oct 1;18(19):5203-11. doi: 10.1158/1078-0432.CCR-12-0845. Epub 2012 Jul 26.

Delmaghani S, Aghaie A, Michalski N, Bonnet C, Weil D, Petit C. Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. Hum Mol Genet. 2012 Sep 1;21(17):3835-44. doi: 10.1093/hmg/dds212.

Pottier C, Hannequin D, Coutant S, Rovelet-Lecrux A, Wallon D, Rousseau S, Legallic S, Paquet C, Bombois S, Pariente J, Thomas-Anterion C, Michon A, Croisile B, Etcharry-Bouyx F, Berr C, Dartigues JF, Amouyel P, Dauchel H, Boutoleau-Bretonnière C, Thauvin C, Frebourg T, Lambert JC, Campion D; PHRC GMAJ Collaborators. High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. Mol Psychiatry. 2012 Sep;17(9):875-9. doi: 10.1038/mp.2012.15.

May-Panloup P, Ferré-L’Hôtellier V, Morinière C, Marcaillou C, Lemerle S, Malinge MC, Coutolleau A, Lucas N, Reynier P, Descamps P, Guardiola P. Molecular characterization of corona radiata cells from patients with diminished ovarian reserve using microarray and microfluidic-based gene expression profiling. Hum Reprod. 2012 Mar;27(3):829-43. doi: 10.1093/humrep/der431.

Guichard C, Amaddeo G, Imbeaud S, Ladeiro Y, Pelletier L, Maad IB, Calderaro J, Bioulac-Sage P, Letexier M, Degos F, Clément B, Balabaud C, Chevet E, Laurent A, Couchy G, Letouzé E, Calvo F, Zucman-Rossi J. Integrated analysis of somatic mutations and focal copy-number changes identifies key genes and pathways in hepatocellular carcinoma. Nature Genetics. 2012 May 6;44(6):694-8. doi: 10.1038/ng.2256.

Depienne C, Bouteiller D, Méneret A, Billot S, Groppa S, Klebe S, Charbonnier-Beaupel F, Corvol JC, Saraiva JP, Brueggemann N, Bhatia K, Cincotta M, Brochard V, Flamand-Roze C, Carpentier W, Meunier S, Marie Y, Gaussen M, Stevanin G, Wehrle R, Vidailhet M, Klein C, Dusart I, Brice A, Roze E. RAD51 haploinsufficiency causes congenital mirror movements in humans. Am J Hum Genet. 2012 Feb 10;90(2):301-7. doi: 10.1016/j.ajhg.2011.12.002.

Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012 Feb 10;90(2):321-30. doi: 10.1016/j.ajhg.2011.12.007. Erratum in: Am J Hum Genet. 2012 Jul 13;91(1):209.

Audo I, Bujakowska KM, Léveillard T, Mohand-Saïd S, Lancelot ME, Germain A, Antonio A, Michiels C, Saraiva JP, Letexier M, Sahel JA, Bhattacharya SS, Zeitz C. Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases. Orphanet J Rare Dis. 2012 Jan 25;7:8. doi: 10.1186/1750-1172-7-8.

Bujakowska K, Audo I, Mohand-Saïd S, Lancelot ME, Antonio A, Germain A, Léveillard T, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Sahel JA, Bhattacharya SS, Zeitz C. CRB1 mutations in inherited retinal dystrophies. Hum Mutat. 2012 Feb;33(2):306-15. doi: 10.1002/humu.21653.

2011

Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, Jouk PS, Steichen E, Berland S, Toutain A, Wise CA, Sanlaville D, Rousseau F, Clerget-Darpoux F, Leutenegger AL. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Science, 2011 Apr 8;332(6026):240-3. doi: 10.1126/science.1202205.

Simon T, Steg PG, Gilard M, Blanchard D, Bonello L, Hanssen M, Lardoux H, Coste P, Lefèvre T, Drouet E, Mulak G, Bataille V, Ferrières J, Verstuyft C, Danchin N. Clinical events as a function of proton pump inhibitor use, clopidogrel use, and cytochrome P450 2C19 genotype in a large nationwide cohort of acute myocardial infarction. Circulation. 2011 Feb 8;123(5):474-82. doi: 10.1161/CIRCULATIONAHA.110.965640.

Isidor B, Lindenbaum P, Pichon O, Bézieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C. Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet. 2011 Mar 6;43(4):306-8. doi: 10.1038/ng.778.