Alternative splicing in normal and pathological human placentas is correlated to genetic variants
Camino S M Ruano, Clara Apicella, Sébastien Jacques, Géraldine Gascoin, Cassandra Gaspar, Francisco Miralles, Céline Méhats, Daniel Vaiman. Hum Genet. 2021 Jan 12.
Do assisted reproductive technologies and in vitro embryo culture influence the epigenetic control of imprinted genes and transposable elements in children?
J Barberet, C Binquet, M Guilleman, A Doukani, C Choux, C Bruno, A Bourredjem, C Chapusot, D Bourc’his, Y Duffourd, P Fauque. Hum Reprod. 2020 Dec 15.
WDR34, a candidate gene for non-syndromic rod-cone dystrophy
Maria Solaguren-Beascoa, Kinga M Bujakowska, Cécile Méjécase, Lisa Emmenegger, Elise Orhan, Marion Neuillé, Saddek Mohand-Saïd, Christel Condroyer, Marie-Elise Lancelot, Christelle Michiels, Vanessa Demontant, Aline Antonio, Mélanie Letexier, Jean-Paul Saraiva, Christine Lonjou, Wassila Carpentier, Thierry Léveillard, Eric A Pierce, Hélène Dollfus, José-Alain Sahel, Shomi S Bhattacharya, Isabelle Audo, Christina Zeitz. Clin Genet.2020 Nov 9.
Clinicogenomic factors of biotherapy immunogenicity in autoimmune disease: A prospective multicohort study of the ABIRISK consortium
Signe Hässler , Delphine Bachelet , Julianne Duhaze , Natacha Szely , Aude Gleizes , Salima Hacein-Bey Abina , Orhan Aktas, Michael Auer, Jerôme Avouac, Mary Birchler , Yoram Bouhnik, Olivier Brocq, Dorothea Buck-Martin, Guillaume Cadiot , Franck Carbonnel , Yehuda Chowers , Manuel Comabella , Tobias Derfuss, Niek De Vries, Naoimh Donnellan, Abiba Doukani, Michael Guger , Hans-Peter Hartung, Eva Kubala Havrdova, Bernhard Hemmer , Tom Huizinga, Kathleen Ingenhoven, Poul Erik Hyldgaard-Jensen, Elizabeth C Jury, Michael Khalil, Bernd Kieseier, Anna Laurén, Raija Lindberg, Amy Loercher, Enrico Maggi, Jessica Manson, Claudia Mauri, Badreddine Mohand Oumoussa, Marc Pallardy, Philippe Broët, et al. ABIRISK consortium. Plos Med. 2020 Oct 30.
Changes in circulating miRNA19a-3p precede insulin resistance programmed by intra-uterine growth retardation in mice
Sarah Saget, Rong Cong, Lyvianne Decourtye, Marie-Laure Endale, Laetitia Martinerie , Clémence Girardet, Claire Perret, Maud Clemessy, Patricia Leneuve, Laetitia Dinard, Badreddine Mohand Oumoussa, Dominique Farabos, Antonin Lamazière, Marc Lombès, Marthe Moldes, Bruno Fève, David Tregouet, Yves Le Bouc, Laurent Kappeler. Molecular Metabolism. 2020 Sept 18.
Analyse de la méthylation d’ADN sur puces : étude comparative d’échantillons de tissus congelés et tissus FFPE
Badreddine Mohand Oumoussa, Abiba Doukani, Cassandra Gaspar, Franck Bielle. 10eme Assises de Génétique Humaine et Médicale, Tours 21-24 Jan 2020.
Brain tumor with an ATXN1-NUTM1 fusion gene expands the histologic spectrum of NUTM1-rearranged neoplasia
Aurore Siegfried, Julien Masliah-Planchon, Franck-Emmanuel Roux, Delphine Larrieu-Ciron, Gaelle Pierron, Yvan Nicaise, Marion Gambart, Isabelle Catalaa, Sarah Péricart, Charlotte Dubucs, Badreddine Mohand-Oumoussa, Franck Tirode, Franck Bourdeaut & Emmanuelle Uro-Coste. Acta Neuropathol Communications. 2019 Dec 30.
Pangenomic Classification of Pituitary Neuroendocrine Tumors
Neou M, Villa C, Armignacco R, Jouinot A, Raffin-Sanson ML, Septier A, Letourneur F, Diry S, Diedisheim M, Izac B, Gaspar C, Perlemoine K, Verjus V, Bernier M, Boulin A, Emile JF, Bertagna X, Jaffrezic F, Laloe D, Baussart B, Bertherat J, Gaillard S, Assié G. Cancer Cell. 2019 Dec 11
Long-Term Pantethine Treatment Counteracts Pathologic Gene Dysregulation and Decreases Alzheimer’s Disease Pathogenesis in a Transgenic Mouse Model
Baranger K, van Gijsel-Bonnello M, Stephan D, Carpentier W, Rivera S, Khrestchatisky M, Gharib B, De Reggi M, Benech P. Neurotherapeutics. 2019 Jul 2.
SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation
Blanluet M, Masliah-Planchon J, Giurgea I, Bielle F, Girard E, Andrianteranagna M, Clemenceau S, Bourneix C, Burglen L, Doummar D, Rapinat A, Oumoussa BM, Ayrault O, Pouponnot C, Gentien D, Pierron G, Delattre O, Doz F, Bourdeaut F. Acta Neuropathol. 2019 Mar 8.
ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors
Uro-Coste E, Masliah-Planchon J, Siegfried A, Blanluet M, Lambo S, Kool M, Roujeau T, Boetto S, Palenzuela G, Bertozzi AI, Gambart M, Coupier I, Oliver-Petit I, Golmard L, Julia S, Savagner F, Mohand-Oumoussa B, Tauziede-Espariat A, Delisle MB, Figarella-Branger D, Bourdeaut F, Rigau V. Acta Neuropathol. 2019 Jan;137(1):175-177
Plasma levels of hsa-miR-152-3p are associated with diabetic nephropathy in patients with type 2 diabetes
Roux M, Perret C, Feigerlova E, Mohand Oumoussa B, Saulnier PJ, Proust C, Trégouët DA, Hadjadj S. Nephrol Dial Transplant. 2018 Dec 1;33(12):2201-2207
Increased Fatty Acid Oxidation in Differentiated Proximal Tubular Cells Surviving a Reversible Episode of Acute Kidney Injury
Bataille A, Galichon P, Chelghoum N, Oumoussa BM, Ziliotis MJ, Sadia I, Vandermeersch S, Simon-Tillaux N, Legouis D, Cohen R, Xu-Dubois YC, Commereuc M, Rondeau E, Le Crom S, Hertig A. Cell Physiol Biochem. 2018;47(4):1338-1351
Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors
Poggi M, Canault M, Favier M, Turro E, Saultier P, Ghalloussi D, Baccini V, Vidal L, Mezzapesa A, Chelghoum N, Mohand-Oumoussa B, Falaise C, Favier R, Ouwehand WH, Fiore M, Peiretti F, Morange PE, Saut N, Bernot D, Greinacher A, BioResource N, Nurden AT, Nurden P, Freson K, Trégouët DA, Raslova H, Alessi MC. Haematologica. 2017 Feb;102(2):282-294
Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.
Kielar M, Tuy FP, Bizzotto S, Lebrand C, de Juan Romero C, Poirier K, Oegema R, Mancini GM, Bahi-Buisson N, Olaso R, Le Moing AG, Boutourlinsky K, Boucher D, Carpentier W, Berquin P, Deleuze JF, Belvindrah R, Borrell V, Welker E, Chelly J, Croquelois A, Francis F. Nat Neurosci. 2014 May 25.
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
International Multiple Sclerosis Genetics Consortium (IMSGC), Beecham AH, Patsopoulos NA, Xifara DK, Davis MF, Kemppinen A, Cotsapas C, Shah TS, Spencer C, Booth D, Goris A, Oturai A, Saarela J, Fontaine B, Hemmer B, Martin C, Zipp F, D’Alfonso S, Martinelli-Boneschi F, Taylor B, Harbo HF, Kockum I, Hillert J, Olsson T, Ban M, Oksenberg JR, Hintzen R, Barcellos LF; Wellcome Trust Case Control Consortium 2 (WTCCC2); International IBD Genetics Consortium (IIBDGC), Agliardi C, Alfredsson L, Alizadeh M, Anderson C, Andrews R, Søndergaard HB, Baker A, Band G, Baranzini SE, Barizzone N, Barrett J, Bellenguez C, Bergamaschi L, Bernardinelli L, Berthele A, Biberacher V, Binder TM, Blackburn H, Bomfim IL, Brambilla P, Broadley S, Brochet B, Brundin L, Buck D, Butzkueven H, Caillier SJ, Camu W, Carpentier W, Cavalla P, Celius EG, Coman I, Comi G, Corrado L, Cosemans L, Cournu-Rebeix I, Cree BA, Cusi D, Damotte V, Defer G, Delgado SR, Deloukas P, di Sapio A, Dilthey AT, Donnelly P, Dubois B, Duddy M, Edkins S, Elovaara I, Esposito F, Evangelou N, Fiddes B, Field J, Franke A, Freeman C, Frohlich IY, Galimberti D, Gieger C, Gourraud PA, Graetz C, Graham A, Grummel V, Guaschino C, Hadjixenofontos A, Hakonarson H, Halfpenny C, Hall G, Hall P, Hamsten A, Harley J, Harrower T, Hawkins C, Hellenthal G, Hillier C, Hobart J, Hoshi M, Hunt SE, Jagodic M, Jelčić I, Jochim A, Kendall B, Kermode A, Kilpatrick T, Koivisto K, Konidari I, Korn T, Kronsbein H, Langford C, Larsson M, Lathrop M, Lebrun-Frenay C, Lechner-Scott J, Lee MH, Leone MA, Leppä V, Liberatore G, Lie BA, Lill CM, Lindén M, Link J, Luessi F, Lycke J, Macciardi F, Männistö S, Manrique CP, Martin R, Martinelli V, Mason D, Mazibrada G, McCabe C, Mero IL, Mescheriakova J, Moutsianas L, Myhr KM, Nagels G, Nicholas R, Nilsson P, Piehl F, Pirinen M, Price SE, Quach H, Reunanen M, Robberecht W, Robertson NP, Rodegher M, Rog D, Salvetti M, Schnetz-Boutaud NC, Sellebjerg F, Selter RC, Schaefer C, Shaunak S, Shen L, Shields S, Siffrin V, Slee M, Sorensen PS, Sorosina M, Sospedra M, Spurkland A, Strange A, Sundqvist E, Thijs V, Thorpe J, Ticca A, Tienari P, van Duijn C, Visser EM, Vucic S, Westerlind H, Wiley JS, Wilkins A, Wilson JF, Winkelmann J, Zajicek J, Zindler E, Haines JL, Pericak-Vance MA, Ivinson AJ, Stewart G, Hafler D, Hauser SL, Compston A, McVean G, De Jager P, Sawcer SJ, McCauley JL. Nat Genet. 2013 Sep 29.
Limitations of IL-2 and rapamycin in immunotherapy of type 1 diabetes.
Baeyens A, Pérol L, Fourcade G, Cagnard N, Carpentier W, Woytschak J, Boyman O, Hartemann A, Piaggio E. Diabetes. 2013 May 13.
Human RTEL1 Deficiency Causes Hoyeraal-Hreidarsson Syndrome With Short Telomeres and Genome Instability.
Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, Carpentier W, Nitschke P, Picard C, Couillault G, Soulier J, Fischer A, Callebaut I, Jabado N, Londono-Vallejo A, de Villartay JP, Revy P. Hum Mol Genet. 2013 Apr 15.
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation.
Moshous D, Martin E, Carpentier W, Lim A, Callebaut I, Canioni D, Hauck F, Majewski J, Schwartzentruber J, Nitschke P, Sirvent N, Frange P, Picard C, Blanche S, Revy P, Fischer A, Latour S, Jabado N, de Villartay JP. J Allergy Clin Immunol. 2013 Mar 20.
Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension.
Germain M, Eyries M, Montani D, Poirier O, Girerd B, Dorfmüller P, Coulet F, Nadaud S, Maugenre S, Guignabert C, Carpentier W, Vonk-Noordegraaf A, Lévy M, Chaouat A, Lambert JC, Bertrand M, Dupuy AM, Letenneur L, Lathrop M, Amouyel P, de Ravel TJ, Delcroix M, Austin ED, Robbins IM, Hemnes AR, Loyd JE, Berman-Rosenzweig E, Barst RJ, Chung WK, Simonneau G, Trégouët DA, Humbert M, Soubrier F. Nat Genet. 2013 Mar 17.
Ribosomal protein S6 kinase activity controls the ribosome biogenesis transcriptional program.
Chauvin C, Koka V, Nouschi A, Mieulet V, Hoareau-Aveilla C, Dreazen A, Cagnard N, Carpentier W, Kiss T, Meyuhas O, Pende M. Oncogene. 2013 Jan 14.
A Genome-Wide Association Study in Caucasian Women Points Out a Putative Role of the STXBP5L Gene in Facial Photoaging.
Le Clerc S, Taing L, Ezzedine K, Latreille J, Delaneau O, Labib T, Coulonges C, Bernard A, Melak S, Carpentier W, Malvy D, Jdid R, Galan P, Hercberg S, Morizot F, Guinot C, Tschachler E, Zagury JF. J Invest Dermatol. 2013 Apr;133(4):929-35.
Restoration of regulatory and effector T cell balance and B cell homeostasis in systemic lupus erythematosus patients through vitamin D supplementation.
Terrier B, Derian N, Schoindre Y, Chaara W, Geri G, Zahr N, Mariampillai K, Rosenzwajg M, Carpentier W, Musset L, Piette JC, Six A, Klatzmann D, Saadoun D, Patrice C, Costedoat-Chalumeau N. Arthritis Res Ther. 2012 Oct 17;14(5):R221.
Translation termination efficiency modulates ATF4 response by regulating ATF4 mRNA translation at 5′ short ORFs.
Ait Ghezala H, Jolles B, Salhi S, Castrillo K, Carpentier W, Cagnard N, Bruhat A, Fafournoux P, Jean-Jean O. Nucleic Acids Res. 2012 Oct;40(19):9557-70.
RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans.
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. Am J Hum Genet. 2012 Feb 1.]
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
Klebe S, Lossos A, Azzedine H, Mundwiller E, Sheffer R, Gaussen M, Marelli C, Nawara M, Carpentier W, Meyer V, Rastetter A, Martin E, Bouteiller D, Orlando L, Gyapay G, El-Hachimi KH, Zimmerman B, Gamliel M, Misk A, Lerer I, Brice A, Durr A, Stevanin G. Eur J Hum Genet. 2012 Jan 18.
CRB1 mutations in inherited retinal dystrophies.
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. Hum Mutat. 2012 Feb;33(2):306-15.
Expansion of functionally anergic CD21(-/low) marginal zone-like B cell clones in hepatitis C virus infection-related autoimmunity.
Terrier B, Joly F, Vazquez T, Benech P, Rosenzwajg M, Carpentier W, Garrido M, Ghillani-Dalbin P, Klatzmann D, Cacoub P, Saadoun D. J Immunol. 2011 Dec 15;187(12):6550-63.
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
Audo I, Bujakowska K, Mohand-Saïd S, Tronche S, Lancelot ME, Antonio A, Germain A, Lonjou C, Carpentier W, Sahel JA, Bhattacharya S, Zeitz C. Mol Vis. 2011;17:1598-606.
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.
Jeanpierre C, Macé G, Parisot M, Morinière V, Pawtowsky A, Benabou M, Martinovic J, Amiel J, Attié-Bitach T, Delezoide AL, Loget P, Blanchet P, Gaillard D, Gonzales M, Carpentier W, Nitschke P, Tores F, Heidet L, Antignac C, Salomon R; Société Française de Foetopathologie. J Med Genet. 2011 Jul;48(7):497-504.
Pathogenic T cells have a paradoxical protective effect in murine autoimmune diabetes by boosting Tregs.
Grinberg-Bleyer Y, Saadoun D, Baeyens A, Billiard F, Goldstein JD, Grégoire S, Martin GH, Elhage R, Derian N, Carpentier W, Marodon G, Klatzmann D, Piaggio E, Salomon BL. J Clin Invest. 2010 Dec 1;120(12):4558-68.
IL-2 reverses established type 1 diabetes in NOD mice by a local effect on pancreatic regulatory T cells.
Grinberg-Bleyer Y, Baeyens A, You S, Elhage R, Fourcade G, Gregoire S, Cagnard N, Carpentier W, Tang Q, Bluestone J, Chatenoud L, Klatzmann D, Salomon BL, Piaggio E. J Exp Med. 2010 Aug 30;207(9):1871-8.
Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10.
Keren B, Jacquette A, Depienne C, Leite P, Durr A, Carpentier W, Benyahia B, Ponsot G, Soubrier F, Brice A, Héron D. Neurogenetics. 2010 May;11(2):273-4.
Genomewide association study of a rapid progression cohort identifies new susceptibility alleles for AIDS (ANRS Genomewide Association Study 03).
Le Clerc S, Limou S, Coulonges C, Carpentier W, Dina C, Taing L, Delaneau O, Labib T, Sladek R; ANRS Genomic Group, Deveau C, Guillemain H, Ratsimandresy R, Montes M, Spadoni JL, Therwath A, Schächter F, Matsuda F, Gut I, Lelièvre JD, Lévy Y, Froguel P, Delfraissy JF, Hercberg S, Zagury JF. J Infect Dis. 2009 Oct 15;200(8):1194-201.
Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.
Beaujard MP, Chantot S, Dubois M, Keren B, Carpentier W, Mabboux P, Whalen S, Vodovar M, Siffroi JP, Portnoï MF. Eur J Med Genet. 2009 Sep-Oct;52(5):321-7.
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, Benyahia B, Quelin C, Carpentier W, Julia S, Afenjar A, Gautier A, Rivier F, Meyer S, Berquin P, Hélias M, Py I, Rivera S, Bahi-Buisson N, Gourfinkel-An I, Cazeneuve C, Ruberg M, Brice A, Nabbout R, Leguern E. PLoS Genet. 2009 Feb;5(2):e1000381.
Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).
Limou S, Le Clerc S, Coulonges C, Carpentier W, Dina C, Delaneau O, Labib T, Taing L, Sladek R, Deveau C, Ratsimandresy R, Montes M, Spadoni JL, Lelièvre JD, Lévy Y, Therwath A, Schächter F, Matsuda F, Gut I, Froguel P, Delfraissy JF, Hercberg S, Zagury JF; ANRS Genomic Group. J Infect Dis. 2009 Feb 1;199(3):419-26.
Distinct genetic loci control plasma HIV-RNA and cellular HIV-DNA levels in HIV-1 infection: the ANRS Genome Wide Association 01 study.
Dalmasso C, Carpentier W, Meyer L, Rouzioux C, Goujard C, Chaix ML, Lambotte O, Avettand-Fenoel V, Le Clerc S, de Senneville LD, Deveau C, Boufassa F, Debré P, Delfraissy JF, Broet P, Theodorou I; ANRS Genome Wide Association 01. PLoS One. 2008;3(12):e3907. Epub 2008 Dec 24.
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, Keren B, Abert B, Gautier A, Baulac S, Arzimanoglou A, Cazeneuve C, Nabbout R, LeGuern E. J Med Genet. 2009 Mar;46(3):183-91.