Fiche personne
Territoire
Champagne-Ardenne
Statut
Hospitalo-Universitaire
Recherche
Expertises :
- Clinique:Génétique Médicale
Publications
Rare IDH hotspot mutations in dysembryoplastic neuroepithelial tumors expand the spectrum of IDH-altered CNS tumors.
Raby M, Servant E, Dangouloff-Ros V, Lebre AS, Simboli GA, Saffroy R, Benichi S, Bourgeois M, Blauwblomme T, Onken J, Koch A, Schmid S, Chrétien F, Tauziède-Espariat A, Varlet P, Capper D, Métais A
Acta Neuropathol. 2025 11 18;150(1):53
[New developments in grading meningiomas: The experience of the Hospital Sainte-Anne].
Tauziède-Espariat A, Métais A, Sassi F, Pucelle N, Mandoula M, Dababou Z, Carnes N, Berthaud C, Brissez L, Saffroy R, Lebre AS, Servant E, Varlet P
Ann Pathol. 2025 10 13;:
Nephrogenomics, precision medicine and the role of genetic testing in adult kidney disease management.
Bensouna I, Doreille A, Dancer M, Lebre AS, Robert T, Mesnard L
Nat Rev Nephrol. 2025 06 16;:
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C, Pion E, Chaussenot A, Bris C, Ait-El-Mkadem Saadi S, Desquiret-Dumas V, Gueguen N, Fragaki K, Amati-Bonneau P, Barcia G, Gaignard P, Steffann J, Pennisi A, Bonnefont JP, Lebigot E, Bannwarth S, Francou B, Rucheton B, Sternberg D, Martin-Negrier ML, Trimouille A, Hardy G, Allouche S, Acquaviva-Bourdain C, Pagan C, Lebre AS, Reynier P, Cossee M, Attarian S, Paquis-Flucklinger V, ,Procaccio V
Ann Clin Transl Neurol. 2024 05 4;:
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Ruault V, Burger P, Gradels-Hauguel J, Ruiz N, ,Jamra RA, Afenjar A, Alembik Y, Alessandri JL, Arpin S, Barcia G, Bendová Š, Bruel AL, Charles P, Chatron N, Chopra M, Conrad S, Daire VC, Cospain A, Coubes C, Coursimault J, Delahaye-Duriez A, Doco M, Dufour W, Durand B, Engel C, Faivre L, Ferroul F, Fradin M, Frenkiel H, Fusco C, Garavelli L, Garde A, Gerard B, Germanaud D, Goujon L, Gouronc A, Ginglinger E, Goldenberg A, Hancarova M, Havlovicová M, Heron D, Isidor B, Marçais NJ, Keren B, Koch-Hogrebe M, Kuentz P, Lamure V, Lebre AS, Lecoquierre F, Lehman N, Lesca G, Lyonnet S, Martin D, Mignot C, Neuhann TM, Nicolas G, Nizon M, Petit F, Philippe C, Piton A, Pollazzon M, Prchalová D, Putoux A, Rio M, Rondeau S, Rossi M, Sabbagh Q, Saugier-Veber P, Schmetz A, Steffann J, Thauvin-Robinet C, Toutain A, Them FTM, Trimarchi G, Vincent M, Vlčková M, Wieczorek D, Willems M, Yauy K, Zelinová M, Ziegler A, ,Chaumette B, Sadikovic B, Mandel JL, Geneviève D
Mol Genet Genomic Med. 2024 01;12(1):e2363
Monoallelic Loss of Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype.
Salhi S, Doreille A, Dancer MS, Boueilh A, Filipozzi P, El Karoui K, Ponce F, Lebre AS, Raymond L, Mesnard L
Am J Kidney Dis. 2023 10 14;:
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A, Lombardi Y, Dancer M, Lamri R, Testard Q, Vanhoye X, Lebre AS, Garcia H, Rafat C, Ouali N, Luque Y, Izzedine H, Esteve E, Cez A, Petit-Hoang C, François H, Marchal A, Letavernier E, Frémeaux-Bacchi V, Boffa JJ, Rondeau E, Raymond L, Mesnard L
Kidney Int Rep. 2023 03;8(3):596-605
Mutational Characteristics of Primary Mucosal Melanoma: A Systematic Review.
Beaudoux O, Oudart JB, Riffaud L, Visseaux L, Marchal A, Lebre AS, Grange F
Mol Diagn Ther. 2022 Feb 23;:
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for -Related Syndrome.
Foroutan A, Haghshenas S, Bhai P, Levy MA, Kerkhof J, McConkey H, Niceta M, Ciolfi A, Pedace L, Miele E, Genevieve D, Heide S, Alders M, Zampino G, Merla G, Fradin M, Bieth E, Bonneau D, Dieterich K, Fergelot P, Schaefer E, Faivre L, Vitobello A, Maitz S, Fischetto R, Gervasini C, Piccione M, van de Laar I, Tartaglia M, Sadikovic B, Lebre AS
Int J Mol Sci. 2022 Feb 5;23(3):
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.
Arnaud L, Abi Warde MT, Barcia G, de Bellescize J, Chatron N, Faoucher M, de Saint Martin A, Héron D, Jedraszak G, Lacoste C, Lèbre AS, Jenneson-Lyver M, Labalme A, Leguern E, Mignot C, Milh M, Nabbout R, Nava C, Panagiotakaki E, Piton A, Schaefer E, Thevenon J, Villard L, Ville D, Lesca G
Eur J Med Genet. 2022 Jan 25;:104445
Prolidase Deficiency Causing Recalcitrant Leg Ulcerations in Siblings.
Hajjar N, Kabbani M, Tannous R, Lebre AS, Megarbane A, Minari A, El Sayed F
Adv Skin Wound Care. 2021 Nov 1;34(11):1-4
Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature.
Beaudoux O, Lebre AS, Doco Fenzy M, Spodenkiewicz M, Canivet E, Colosio C, Poirsier C
Am J Med Genet A. 2021 Jan 13;:
Nephronophthisis in Young Adults Phenocopying Thrombotic Microangiopathy and Severe Nephrosclerosis.
Doreille A, Raymond L, Lebre AS, Linster C, Saraeva Lamri R, Karras A, Khayat R, Michel PA, Buob D, Luque Y, Rafat C, Mesnard L
Clin J Am Soc Nephrol. 2020 Dec 2;:
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Bar C, Kuchenbuch M, Barcia G, Schneider A, Jennesson M, Le Guyader G, Lesca G, Mignot C, Montomoli M, Parrini E, Isnard H, Rolland A, Keren B, Afenjar A, Dorison N, Sadleir LG, Breuillard D, Levy R, Rio M, Dupont S, Negrin S, Danieli A, Scalais E, De Saint Martin A, El Chehadeh S, Chelly J, Poisson A, Lebre AS, Nica A, Odent S, Sekhara T, Brankovic V, Goldenberg A, Vrielynck P, Lederer D, Maurey H, Terrone G, Besmond C, Hubert L, Berquin P, Billette de Villemeur T, Isidor B, Freeman JL, Mefford HC, Myers CT, Howell KB, Rodríguez-Sacristán Cascajo A, Meyer P, Genevieve D, Guët A, Doummar D, Durigneux J, van Dooren MF, de Wit MCY, Gerard M, Marey I, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R
Epilepsia. 2020 Sep 21;:
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Lefebvre M, Bruel AL, Tisserant E, Bourgon N, Duffourd Y, Collardeau-Frachon S, Attie-Bitach T, Kuentz P, Assoum M, Schaefer E, El Chehadeh S, Antal MC, Kremer V, Girard-Lemaitre F, Mandel JL, Lehalle D, Nambot S, Jean-Marçais N, Houcinat N, Moutton S, Marle N, Lambert L, Jonveaux P, Foliguet B, Mazutti JP, Gaillard D, Alanio E, Poirisier C, Lebre AS, Aubert-Lenoir M, Arbez-Gindre F, Odent S, Quélin C, Loget P, Fradin M, Willems M, Bigi N, Perez MJ, Blesson S, Francannet C, Beaufrere AM, Patrier-Sallebert S, Guerrot AM, Goldenberg A, Brehin AC, Lespinasse J, Touraine R, Capri Y, Saint-Frison MH, Laurent N, Philippe C, Tran Mau-Them F, Thevenon J, Faivre L, Thauvin-Robinet C, Vitobello A
J. Med. Genet.. 2020 Jul 30;:
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
Vera G, Sorlin A, Delplancq G, Lecoquierre F, Brasseur-Daudruy M, Petit F, Smol T, Ziegler A, Bonneau D, Colin E, Mercier S, Cogné B, Bézieau S, Edery P, Lesca G, Chatron N, Sabatier I, Duban-Bedu B, Colson C, Piton A, Durand B, Capri Y, Perrin L, Wiesener A, Zweier C, Maroofian R, Carroll CJ, Galehdari H, Mazaheri N, Callewaert B, Giulianno F, Zaafrane-Khachnaoui K, Buchert-Lo R, Haack T, Magg J, Rieß A, Blandfort M, Waldmüller S, Horber V, Leonardi E, Polli R, Turolla L, Murgia A, Frebourg T, Lebre AS, Nicolas G, Saugier-Veber P, Guerrot AM
Eur J Med Genet. 2020 Jul 17;:104004
Clinical Genetics of Prolidase Deficiency: An Updated Review.
Spodenkiewicz M, Spodenkiewicz M, Cleary M, Massier M, Fitsialos G, Cottin V, Jouret G, Poirsier C, Doco-Fenzy M, Lèbre AS
Biology (Basel). 2020 May 21;9(5):
Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations.
Decoux-Poullot AG, Bannwarth S, Procaccio V, Lebre AS, Jardel C, Vialettes B, Paquis-Flucklinger V, Chevalier N
Ann. Endocrinol. (Paris). 2020 Apr 28;:
Prolidase deficiency: a new genetic cause of combined pulmonary fibrosis and emphysema syndrome in the adult.
Cottin V, Nasser M, Traclet J, Chalabreysse L, Lèbre AS, Si-Mohamed S, Philit F, Thivolet-Béjui F
Eur. Respir. J.. 2020 Jan 24;:
Significant contribution of intragenic deletions to ARID1B mutation spectrum.
Gorokhova S, Mortreux J, Afenjar A, Attie-Bitach T, Blanluet M, Cormier-Daire V, Guerrot AM, Lebre AS, Malan V, Nicolas G, Rondeau S, Philip N, Saugier-Veber P, Badens C, Missirian C
Genet. Med.. 2019 11;21(11):2654-2655
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, de Villemeur TB, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint Martin A, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R
Hum. Mutat.. 2019 Sep 12;:
eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data.
Goudenège D, Bris C, Hoffmann V, Desquiret-Dumas V, Jardel C, Rucheton B, Bannwarth S, Paquis-Flucklinger V, Lebre AS, Colin E, Amati-Bonneau P, Bonneau D, Reynier P, Lenaers G, Procaccio V
Genet. Med.. 2019 06;21(6):1407-1416
Genetics of Usher Syndrome: New Insights From a Meta-analysis.
Jouret G, Poirsier C, Spodenkiewicz M, Jaquin C, Gouy E, Arndt C, Labrousse M, Gaillard D, Doco-Fenzy M, Lebre AS
Otol. Neurotol.. 2019 Jan;40(1):121-129
The landscape of epilepsy-related GATOR1 variants.
Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, Nordli DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S, Baulac S
Genet. Med.. 2018 Aug 10;:
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
Baer S, Afenjar A, Smol T, Piton A, Gérard B, Alembik Y, Bienvenu T, Boursier G, Boute O, Colson C, Cordier MP, Cormier-Daire V, Delobel B, Doco-Fenzy M, Duban-Bedu B, Fradin M, Geneviève D, Goldenberg A, Grelet M, Haye D, Heron D, Isidor B, Keren B, Lacombe D, Lèbre AS, Lesca G, Masurel A, Mathieu-Dramard M, Nava C, Pasquier L, Petit A, Philip N, Piard J, Rondeau S, Saugier-Veber P, Sukno S, Thevenon J, Van-Gils J, Vincent-Delorme C, Willems M, Schaefer E, Morin G
Clin. Genet.. 2018 07;94(1):141-152
Clinical and genetic characteristics of xeroderma pigmentosum in Nepal.
Espi P, Parajuli S, Benfodda M, Lebre AS, Paudel U, Grange A, Grybek V, Grange T, Soufir N, Grange F
J Eur Acad Dermatol Venereol. 2018 May;32(5):832-839
Novel XK mutation in a McLeod patient diagnosed after heart transplant.
Laurencin C, Sebbag L, Jousserand G, Demontes M, Campean L, Thivolet-Bejui F, Lebre AS, Thobois S
Clin Neurol Neurosurg. 2018 05;168:64-66
LRP1 expression in colon cancer predicts clinical outcome.
Boulagnon-Rombi C, Schneider C, Leandri C, Jeanne A, Grybek V, Bressenot AM, Barbe C, Marquet B, Nasri S, Coquelet C, Fichel C, Bouland N, Bonnomet A, Kianmanesh R, Lebre AS, Bouché O, Diebold MD, Bellon G, Dedieu S
Oncotarget. 2018 Feb 6;9(10):8849-8869
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.
Kuster A, Arnoux JB, Barth M, Lamireau D, Houcinat N, Goizet C, Doray B, Gobin S, Schiff M, Cano A, Amsallem D, Barnerias C, Chaumette B, Plaze M, Slama A, Ioos C, Desguerre I, Lebre AS, de Lonlay P, Christa L,
J. Inherit. Metab. Dis.. 2018 01;41(1):129-139
Novel gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia.
Bris C, Rouaud T, Desquiret-Dumas V, Gueguen N, Goudenege D, Barth M, Bonneau D, Amati-Bonneau P, Lenaers G, Reynier P, Lebre AS, Procaccio V
Neurol Genet. 2017 Dec;3(6):e205
Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3.
Mathieu L, Lopes Costa A, Le Bachelier C, Slama A, Lebre AS, Taylor RW, Bastin J, Djouadi F
Free Radic. Biol. Med.. 2016 07;96:190-8
Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.
Leman G, Gueguen N, Desquiret-Dumas V, Kane MS, Wettervald C, Chupin S, Chevrollier A, Lebre AS, Bonnefont JP, Barth M, Amati-Bonneau P, Verny C, Henrion D, Bonneau D, Reynier P, Procaccio V
Int. J. Biochem. Cell Biol.. 2015 Aug;65:91-103
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rötig A, Lebre AS, Klopstock T, Dworschak A, Pulido N, Saeed MA, Saleh-Gohari N, Holzerova E, Chinnery PF, Taylor RW, Prokisch H
Orphanet J Rare Dis. 2014 Aug 20;9:119
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency.
Lebre AS, Rio M, Faivre d'Arcier L, Vernerey D, Landrieu P, Slama A, Jardel C, Laforêt P, Rodriguez D, Dorison N, Galanaud D, Chabrol B, Paquis-Flucklinger V, Grévent D, Edvardson S, Steffann J, Funalot B, Villeneuve N, Valayannopoulos V, de Lonlay P, Desguerre I, Brunelle F, Bonnefont JP, Rötig A, Munnich A, Boddaert N
J. Med. Genet.. 2011 Jan;48(1):16-23
