Nava C, Cogne B, Santini A, Leitão E, Lecoquierre F, Chen Y, Stenton SL, Besnard T, Heide S, Baer S, Jakhar A, Neuser S, Keren B, Faudet A, Forlani S, Faoucher M, Uguen K, Platzer K, Afenjar A, Alessandri JL, Andres S, Angelini C, Aral B, Arveiler B, Attie-Bitach T, Aubert Mucca M, Banneau G, Barakat TS, Barcia G, Baulac S, Beneteau C, Benkerdou F, Bernard V, Bézieau S, Bonneau D, Bonnet-Dupeyron MN, Boussion S, Boute O, Brischoux-Boucher E, Bryen SJ, Buratti J, Busa T, Caliebe A, Capri Y, Cassinari K, Caumes R, Cenni C, Chambon P, Charles P, Christodoulou J, Colson C, Conrad S, Cospain A, Coursimault J, Courtin T, Couse M, Coutton C, Creveaux I, D'Gama AM, Dauriat B, de Sainte Agathe JM, Del Gobbo G, Delahaye-Duriez A, Delanne J, Denommé-Pichon AS, Dieux-Coeslier A, Do Souto Ferreira L, Doco-Fenzy M, Drukewitz S, Duboc V, Dubourg C, Duffourd Y, Dyment D, El Chehadeh S, Elmaleh M, Faivre L, Fennelly S, Fischer H, Fradin M, Galludec Vaillant C, Ganne B, Ghoumid J, Goel H, Gokce-Samar Z, Goldenberg A, Gonfreville Robert R, Gorokhova S, Goujon L, Granier V, Gras M, Greally JM, Greiten B, Gueguen P, Guerrot AM, Guha S, Guimier A, Haack TB, Hadj Abdallah H, Halleb Y, Harbuz R, Harris M, Hentschel J, Héron B, Hitz MP, Innes AM, Jadas V, Januel L, Jean-Marçais N, Jobanputra V, Jobic F, Jornea L, Jost C, Julia S, Kaiser FJ, Kaschta D, Kaya S, Ketteler P, Khadija B, Kilpert F, Knopp C, Kraft F, Krey I, Lackmy M, Laffargue F, Lambert L, Lamont R, Laugel V, Laurie S, Lauzon JL, Lebreton L, Lebrun M, Legendre M, Leguern E, Lehalle D, Lejeune E, Lesca G, Lesieur-Sebellin M, Levy J, Linglart A, Lyonnet S, Lüthy K, Ma AS, Mach C, Mandel JL, Mansour-Hendili L, Marcadier J, Marin V, Margot H, Marquet V, May A, Mayr JA, Meridda C, Michaud V, Michot C, Nadeau G, Naudion S, Nguyen L, Nizon M, Nowak F, Odent S, Olin V, Osei-Owusu IA, Osmond M, Õunap K, Pasquier L, Passemard S, Pauly M, Patat O, Pensec M, Perrin-Sabourin L, Petit F, Philippe C, Planes M, Poduri A, Poirsier C, Pouzet A, Prince B, Prouteau C, Pujol A, Racine C, Rama M, Ramond F, Ranguin K, Raway M, Reis A, Renaud M, Revencu N, Richard AC, Riera-Navarro L, Rius R, Rodriguez D, Rodriguez-Palmero A, Rondeau S, Roser-Unruh A, Rougeot Jung C, Safraou H, Satre V, Saugier-Veber P, Sauvestre C, Schaefer E, Shao W, Schanze I, Schlump JU, Schlüter Martin A, Schluth-Bolard C, Schuhmann S, Schröder C, Sebastin M, Sigaudy S, Spielmann M, Spodenkiewicz M, St Clair L, Steffann J, Stoeva R, Surowy H, Tarnopolsky MA, Todosi C, Toutain A, Tran Mau-Them F, Unterlauft A, Van-Gils J, Vanlerberghe C, Vasileiou G, Vera G, Verdel A, Verloes A, Vial Y, Vignal C, Vincent M, Vincent-Delorme C, Vincent-Devulder A, Vitobello A, Weber S, Willems M, Zaafrane-Khachnaoui K, Zacher P, Zeltner L, Ziegler A, Galej WP, Dollfus H, Thauvin C, Boycott KM, Marijon P, Lermine A, Malan V, Rio M, Kuechler A, Isidor B, Drunat S, Smol T, Chatron N, Piton A, Nicolas G, Wagner M, Abou Jamra R, Héron D, Mignot C, Blanc P, O'Donnell-Luria A, Whiffin N, Charbonnier C, Charenton C, Thevenon J, Depienne C

Nat Genet. 2025 05 16;:

DYRK1A roles in human neural progenitors.

Courraud J, Quartier A, Drouot N, Zapata-Bodalo I, Gilet J, Benchoua A, Mandel JL, Piton A

Front Neurosci. 2025 03 13;19:1533253

Behavioral, neurodevelopmental profile, and epilepsy trajectory in two series of SLC6A1-NDD: A retrospective study with comprehensive assessment, and a participatory database study.

Baer S, Rebert M, Burger P, Mandel JL, Villeneuve N, Gibaud M, Altuzarra C, Villega F, Cances C, Lacan L, Nguyen S, Lesca G, Isnard H, Allani-Essid N, Laugel V, Coutelle R, de Saint Martin A

Eur J Paediatr Neurol. 2025 01 10;54:121-129

Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.

Krebs-Drouot L, Schalk A, Schaefer E, Keyser C, Gonzalez A, Calmels N, Wardé MA, Oertel L, Acquaviva CÉ, Mandel JL, Farrugia A

Forensic Sci Int Genet. 2024 03 2;71:103028

Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.

Forbes EJ, Morison LD, Lelik F, Howell T, Debono S, Goel H, Burger P, Mandel JL, Geneviève D, Amor DJ, Morgan AT

Am J Med Genet B Neuropsychiatr Genet. 2024 02 29;:e32971

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

Ocular manifestations in Koolen-de Vries syndrome: an international study.

Shalev D, Koolen DA, de Vries BBA, Meirovitch SB, Mandel JL, Burger P, Rosenfeld A, Simon GJB, Prat DL

Can J Ophthalmol. 2023 12 22;:

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.

Courraud J, Engel C, Quartier A, Drouot N, Houessou U, Plassard D, Sorlin A, Brischoux-Boucher E, Gouy E, Van Maldergem L, Rossi M, Lesca G, Edery P, Putoux A, Bilan F, Gilbert-Dussardier B, Atallah I, Kalscheuer VM, Mandel JL, Piton A

Mol Psychiatry. 2023 11 29;:

Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome.

Bouman A, Bouwmeester RN, van Vlimmeren LA, Burger P, Mandel JL, de Vries BBA, de Kleuver M, Klein WM, Geelen JM, Koolen DA

Am J Med Genet A. 2023 06 23;:

GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome.

Colin F, Burger P, Mazzucotelli T, Strehle A, Kummeling J, Collot N, Broly E, Morgan AT, Myers KA, Bloch-Zupan A, Ockeloen CW, de Vries BBA, Kleefstra T, Parrend P, Koolen DA, Mandel JL

Genet Med Open. 2023 05 18;1(1):100817

GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders.

Burger P, Colin F, Strehle A, Mazzucotelli T, Collot N, Coutelle R, Durand B, Bouman A, Landau Prat D, Kleefstra T, Parrend P, Piton A, Koolen DA, Mandel JL

J Neural Transm (Vienna). 2022 11 27;:1-13

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.

Leitão E, Schröder C, Parenti I, Dalle C, Rastetter A, Kühnel T, Kuechler A, Kaya S, Gérard B, Schaefer E, Nava C, Drouot N, Engel C, Piard J, Duban-Bedu B, Villard L, Stegmann APA, Vanhoutte EK, Verdonschot JAJ, Kaiser FJ, Tran Mau-Them F, Scala M, Striano P, Frints SGM, Argilli E, Sherr EH, Elder F, Buratti J, Keren B, Mignot C, Héron D, Mandel JL, Gecz J, Kalscheuer VM, Horsthemke B, Piton A, Depienne C

Nat Commun. 2022 11 2;13(1):6570

The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA.

Coutelle R, Boedec M, Vermeulen K, Kummeling J, Koolen DA, Kleefstra T, Fournier C, Colin F, Strehle A, Geneviève D, Burger P, Mandel JL

BMC Psychiatry. 2022 08 25;22(1):572

Neurocognitive and neurobehavioural characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann-Steiner syndromes.

Durand B, Schaefer E, Burger P, Baer S, Schroder C, Mandel JL, Piton A, Coutelle R

Clin Genet. 2022 07 12;:

AAV-delivered diacylglycerol kinase DGKk achieves long-term rescue of fragile X syndrome mouse model.

Habbas K, Cakil O, Zámbó B, Tabet R, Riet F, Dembele D, Mandel JL, Hocquemiller M, Laufer R, Piguet F, Moine H

EMBO Mol Med. 2022 Apr 4;:e14649

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

Schlüter A, Rodríguez-Palmero A, Verdura E, Vélez-Santamaría V, Ruiz M, Fourcade S, Planas-Serra L, Martínez JJ, Guilera C, Girós M, Artuch R, Yoldi ME, O'Callaghan M, García-Cazorla A, Armstrong J, Marti I, Rezola EM, Redin C, Mandel JL, Conejo D, Sierra-Córcoles C, Beltran S, Gut M, Vázquez E, Del Toro M, Troncoso M, Pérez-Jurado LA, Gutiérrez-Solana LG, López de Munain A, Casasnovas C, Aguilera-Albesa S, Macaya A, Pujol A,

Neurology. 2022 Jan 10;:

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.

Courraud J, Chater-Diehl E, Durand B, Vincent M, Del Mar Muniz Moreno M, Boujelbene I, Drouot N, Genschik L, Schaefer E, Nizon M, Gerard B, Abramowicz M, Cogné B, Bronicki L, Burglen L, Barth M, Charles P, Colin E, Coubes C, David A, Delobel B, Demurger F, Passemard S, Denommé AS, Faivre L, Feger C, Fradin M, Francannet C, Genevieve D, Goldenberg A, Guerrot AM, Isidor B, Johannesen KM, Keren B, Kibæk M, Kuentz P, Mathieu-Dramard M, Demeer B, Metreau J, Steensbjerre Møller R, Moutton S, Pasquier L, Pilekær Sørensen K, Perrin L, Renaud M, Saugier P, Rio M, Svane J, Thevenon J, Tran Mau Them F, Tronhjem CE, Vitobello A, Layet V, Auvin S, Khachnaoui K, Birling MC, Drunat S, Bayat A, Dubourg C, El Chehadeh S, Fagerberg C, Mignot C, Guipponi M, Bienvenu T, Herault Y, Thompson J, Willems M, Mandel JL, Weksberg R, Piton A

Genet Med. 2021 Aug 3;:

30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

Depienne C, Mandel JL

Am J Hum Genet. 2021 Mar 29;:

Clinical practice guidelines for BRCA1 and BRCA2 genetic testing.

Pujol P, Barberis M, Beer P, Friedman E, Piulats JM, Capoluongo ED, Garcia Foncillas J, Ray-Coquard I, Penault-Llorca F, Foulkes WD, Turnbull C, Hanson H, Narod S, Arun BK, Aapro MS, Mandel JL, Normanno N, Lambrechts D, Vergote I, Anahory M, Baertschi B, Baudry K, Bignon YJ, Bollet M, Corsini C, Cussenot O, De la Motte Rouge T, Duboys de Labarre M, Duchamp F, Duriez C, Fizazi K, Galibert V, Gladieff L, Gligorov J, Hammel P, Imbert-Bouteille M, Jacot W, Kogut-Kubiak T, Lamy PJ, Nambot S, Neuzillet Y, Olschwang S, Rebillard X, Rey JM, Rideau C, Spano JP, Thomas F, Treilleux I, Vandromme M, Vendrell J, Vintraud M, Zarca D, Hughes KS, Alés Martínez JE

Eur J Cancer. 2021 Feb 9;146:30-47

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.

Delvallée C, Nicaise S, Antin M, Leuvrey AS, Nourisson E, Carmen LC, Kellaris G, Stoetzel C, Geoffroy V, Scheidecker S, Keren B, Depienne C, Klar J, Dahl N, Deleuze JF, Génin E, Redon R, Demurger F, Devriendt K, Mathieu-Dramard M, Poitou-Bernert C, Odent S, Katsanis N, Mandel JL, Erica DE, Dollfus H, Muller J

Clin Genet. 2020 Nov 9;:

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D, ,Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H

Am. J. Hum. Genet.. 2020 Jul 31;:

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;:

Spatial control of nucleoporin condensation by fragile X-related proteins.

Agote-Aran A, Schmucker S, Jerabkova K, Jmel Boyer I, Berto A, Pacini L, Ronchi P, Kleiss C, Guerard L, Schwab Y, Moine H, Mandel JL, Jacquemont S, Bagni C, Sumara I

EMBO J.. 2020 Jul 24;:e104467

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.

Mattioli F, Hayot G, Drouot N, Isidor B, Courraud J, Hinckelmann MV, Mau-Them FT, Sellier C, Goldman A, Telegrafi A, Boughton A, Gamble C, Moutton S, Quartier A, Jean N, Van Ness P, Grotto S, Nambot S, Douglas G, Si YC, Chelly J, Shad Z, Kaplan E, Dineen R, Golzio C, Charlet-Berguerand N, Mandel JL, Piton A

Am. J. Hum. Genet.. 2020 Mar 11;:

Attitudes towards genetic information delivered by high-throughput sequencing among clinical molecular Geneticists, genetic counselors, medical advisors and students in France.

Titerlea V, Dembélé D, Mandel JL, Laporte J

Eur J Med Genet. 2019 Sep 16;:103770

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

Balak C, Benard M, Schaefer E, Iqbal S, Ramsey K, Ernoult-Lange M, Mattioli F, Llaci L, Geoffroy V, Courel M, Naymik M, Bachman KK, Pfundt R, Rump P, Ter Beest J, Wentzensen IM, Monaghan KG, McWalter K, Richholt R, Le Béchec A, Jepsen W, De Both M, Belnap N, Boland A, Piras IS, Deleuze JF, Szelinger S, Dollfus H, Chelly J, Muller J, Campbell A, Lal D, Rangasamy S, Mandel JL, Narayanan V, Huentelman M, Weil D, Piton A

Am. J. Hum. Genet.. 2019 Aug 5;:

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.

Quartier A, Courraud J, Thi Ha T, McGillivray G, Isidor B, Rose K, Drouot N, Savidan MA, Feger C, Jagline H, Chelly J, Shaw M, Laumonnier F, Gecz J, Mandel JL, Piton A

Hum. Mutat.. 2019 Jun 10;:

Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability.

Mattioli F, Isidor B, Abdul-Rahman O, Gunter A, Huang L, Kumar R, Beaulieu C, Gecz J, Innes M, Mandel JL, Piton A

Hum. Mol. Genet.. 2018 11 21;:

Sex-specific impact of prenatal androgens on social brain default mode subsystems.

Lombardo MV, Auyeung B, Pramparo T, Quartier A, Courraud J, Holt RJ, Waldman J, Ruigrok ANV, Mooney N, Bethlehem RAI, Lai MC, Kundu P, Bullmore ET, Mandel JL, Piton A, Baron-Cohen S

Mol. Psychiatry. 2018 Aug 13;:

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.

Montaut S, Tranchant C, Drouot N, Rudolf G, Guissart C, Tarabeux J, Stemmelen T, Velt A, Fourrage C, Nitschké P, Gerard B, Mandel JL, Koenig M, Chelly J, Anheim M,

JAMA Neurol. 2018 Jun 18;:

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.

Mary L, Piton A, Schaefer E, Mattioli F, Nourisson E, Feger C, Redin C, Barth M, El Chehadeh S, Colin E, Coubes C, Faivre L, Flori E, Geneviève D, Capri Y, Perrin L, Fabre-Teste J, Timbolschi D, Verloes A, Olaso R, Boland A, Deleuze JF, Mandel JL, Gerard B, Giurgea I

Eur. J. Hum. Genet.. 2018 Apr 26;:

Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder.

Quartier A, Chatrousse L, Redin C, Keime C, Haumesser N, Maglott-Roth A, Brino L, Le Gras S, Benchoua A, Mandel JL, Piton A

Biol. Psychiatry. 2018 Jan 9;:

Cerberus, an Access Control Scheme for Enforcing Least Privilege in Patient Cohort Study Platforms : A Comprehensive Access Control Scheme Applied to the GENIDA Project - Study of Genetic Forms of Intellectual Disabilities and Autism Spectrum Disorders.

Parrend P, Mazzucotelli T, Colin F, Collet P, Mandel JL

J Med Syst. 2017 Nov 16;42(1):1

WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.

Kannan M, Bayam E, Wagner C, Rinaldi B, Kretz PF, Tilly P, Roos M, McGillewie L, Bär S, Minocha S, Chevalier C, Po C, ,Chelly J, Mandel JL, Borgatti R, Piton A, Kinnear C, Loos B, Adams DJ, Hérault Y, Collins SC, Friant S, Godin JD, Yalcin B

Proc. Natl. Acad. Sci. U.S.A.. 2017 Oct 31;114(44):E9308-E9317

Fragile X syndrome.

Hagerman RJ, Berry-Kravis E, Hazlett HC, Bailey DB, Moine H, Kooy RF, Tassone F, Gantois I, Sonenberg N, Mandel JL, Hagerman PJ

Nat Rev Dis Primers. 2017 Sep;3:17065

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

Quartier A, Poquet H, Gilbert-Dussardier B, Rossi M, Casteleyn AS, Portes VD, Feger C, Nourisson E, Kuentz P, Redin C, Thevenon J, Mosca-Boidron AL, Callier P, Muller J, Lesca G, Huet F, Geoffroy V, El Chehadeh S, Jung M, Trojak B, Le Gras S, Lehalle D, Jost B, Maury S, Masurel A, Edery P, Thauvin-Robinet C, Gérard B, Mandel JL, Faivre L, Piton A

Eur. J. Hum. Genet.. 2017 Apr;25(4):423-431

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.

Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V, Mandelstam SA, McGillivray G, McIlroy A, Méneret A, Mignot C, Morcom LR, Odent S, Paolino A, Pope K, Riant F, Robinson GA, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard O, Welniarz Q, Wood A, Brice A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor DJ, Roze E, Piton A, Bahlo M, Billette de Villemeur T, Sherr EH, Leventer RJ, Richards LJ, Lockhart PJ, Depienne C

Nat. Genet.. 2017 Apr;49(4):511-514

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

Mattioli F, Schaefer E, Magee A, Mark P, Mancini GM, Dieterich K, Von Allmen G, Alders M, Coutton C, van Slegtenhorst M, Vieville G, Engelen M, Cobben JM, Juusola J, Pujol A, Mandel JL, Piton A

Am. J. Hum. Genet.. 2017 Jan;100(1):105-116

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

Miguet M, Thevenon J, Laugel V, Lefebvre M, Bourchany A, Rivière JB, Duffourd Y, Schaefer E, Antal MC, Abida R, Weingertner AS, Kremer V, Vabres P, Morice-Picard F, Gonzales M, Lipsker D, Fraitag S, Mandel JL, Chelly J, Dollfus H, Faivre L, Thauvin-Robinet C, Calmels N, El Chehadeh S

Prenat. Diagn.. 2016 Dec;36(13):1276-1279

A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.

Masurel-Paulet A, Piton A, Chancenotte S, Redin C, Thauvin-Robinet C, Henrenger Y, Minot D, Creppy A, Ruffier-Bourdet M, Thevenon J, Kuentz P, Lehalle D, Curie A, Blanchard G, Ghosn E, Bonnet M, Archimbaud-Devilliers M, Huet F, Perret O, Philip N, Mandel JL, Faivre L

Am. J. Med. Genet. A. 2016 Aug;170(8):2103-10

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.

Mallaret M, Renaud M, Redin C, Drouot N, Muller J, Severac F, Mandel JL, Hamza W, Benhassine T, Ali-Pacha L, Tazir M, Durr A, Monin ML, Mignot C, Charles P, Van Maldergem L, Chamard L, Thauvin-Robinet C, Laugel V, Burglen L, Calvas P, Fleury MC, Tranchant C, Anheim M, Koenig M

J. Neurol.. 2016 Jul;263(7):1314-22

Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons.

Tabet R, Moutin E, Becker JA, Heintz D, Fouillen L, Flatter E, Krężel W, Alunni V, Koebel P, Dembélé D, Tassone F, Bardoni B, Mandel JL, Vitale N, Muller D, Le Merrer J, Moine H

Proc. Natl. Acad. Sci. U.S.A.. 2016 06;113(26):E3619-28

Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.

Mattioli F, Piton A, Gérard B, Superti-Furga A, Mandel JL, Unger S

Am. J. Med. Genet. A. 2016 Jun;170(6):1626-9

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.

Schaefer E, Stoetzel C, Scheidecker S, Geoffroy V, Prasad MK, Redin C, Missotte I, Lacombe D, Mandel JL, Muller J, Dollfus H

J. Hum. Genet.. 2016 May;61(5):447-50

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

Calmels N, Greff G, Obringer C, Kempf N, Gasnier C, Tarabeux J, Miguet M, Baujat G, Bessis D, Bretones P, Cavau A, Digeon B, Doco-Fenzy M, Doray B, Feillet F, Gardeazabal J, Gener B, Julia S, Llano-Rivas I, Mazur A, Michot C, Renaldo-Robin F, Rossi M, Sabouraud P, Keren B, Depienne C, Muller J, Mandel JL, Laugel V

Orphanet J Rare Dis. 2016 Mar;11:26

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics.

de Angelis MH, Nicholson G, Selloum M, White J, Morgan H, Ramirez-Solis R, Sorg T, Wells S, Fuchs H, Fray M, Adams DJ, Adams NC, Adler T, Aguilar-Pimentel A, Ali-Hadji D, Amann G, André P, Atkins S, Auburtin A, Ayadi A, Becker J, Becker L, Bedu E, Bekeredjian R, Birling MC, Blake A, Bottomley J, Bowl M, Brault V, Busch DH, Bussell JN, Calzada-Wack J, Cater H, Champy MF, Charles P, Chevalier C, Chiani F, Codner GF, Combe R, Cox R, Dalloneau E, Dierich A, Di Fenza A, Doe B, Duchon A, Eickelberg O, Esapa CT, El Fertak L, Feigel T, Emelyanova I, Estabel J, Favor J, Flenniken A, Gambadoro A, Garrett L, Gates H, Gerdin AK, Gkoutos G, Greenaway S, Glasl L, Goetz P, Da Cruz IG, Götz A, Graw J, Guimond A, Hans W, Hicks G, Hölter SM, Höfler H, Hancock JM, Hoehndorf R, Hough T, Houghton R, Hurt A, Ivandic B, Jacobs H, Jacquot S, Jones N, Karp NA, Katus HA, Kitchen S, Klein-Rodewald T, Klingenspor M, Klopstock T, Lalanne V, Leblanc S, Lengger C, le Marchand E, Ludwig T, Lux A, McKerlie C, Maier H, Mandel JL, Marschall S, Mark M, Melvin DG, Meziane H, Micklich K, Mittelhauser C, Monassier L, Moulaert D, Muller S, Naton B, Neff F, Nolan PM, Nutter LM, Ollert M, Pavlovic G, Pellegata NS, Peter E, Petit-Demoulière B, Pickard A, Podrini C, Potter P, Pouilly L, Puk O, Richardson D, Rousseau S, Quintanilla-Fend L, Quwailid MM, Racz I, Rathkolb B, Riet F, Rossant J, Roux M, Rozman J, Ryder E, Salisbury J, Santos L, Schäble KH, Schiller E, Schrewe A, Schulz H, Steinkamp R, Simon M, Stewart M, Stöger C, Stöger T, Sun M, Sunter D, Teboul L, Tilly I, Tocchini-Valentini GP, Tost M, Treise I, Vasseur L, Velot E, Vogt-Weisenhorn D, Wagner C, Walling A, Weber B, Wendling O, Westerberg H, Willershäuser M, Wolf E, Wolter A, Wood J, Wurst W, Yildirim AÖ, Zeh R, Zimmer A, Zimprich A, ,Holmes C, Steel KP, Herault Y, Gailus-Durner V, Mallon AM, Brown SD

Nat. Genet.. 2015 Sep;47(9):969-978

[23andMed: Geneticist Jean-Louis Mandel's personal experience].

Mandel JL, Nau JY

Rev Med Suisse. 2015 May;11(474):1094-5

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Riviere JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel JL, Stevenson RE, Friez MJ, Aylsworth AS

Eur J Hum Genet. 2015 Apr 29

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

Bohm J, Biancalana V, Malfatti E, Dondaine N, Koch C, Vasli N, Kress W, Strittmatter M, Taratuto AL, Gonorazky H, Laforet P, Maisonobe T, Olive M, Gonzalez-Mera L, Fardeau M, Carriere N, Clavelou P, Eymard B, Bitoun M, Rendu J, Faure J, Weis J, Mandel JL, Romero NB, Laporte J

Brain. 2014 Dec;137(Pt 12):3160-70

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Redin C, Gerard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, Feger C, Haumesser N, Alembik Y, Barth M, Bonneau D, Colin E, Dollfus H, Doray B, Delrue MA, Drouin-Garraud V, Flori E, Fradin M, Francannet C, Goldenberg A, Lumbroso S, Mathieu-Dramard M, Martin-Coignard D, Lacombe D, Morin G, Polge A, Sukno S, Thauvin-Robinet C, Thevenon J, Doco-Fenzy M, Genevieve D, Sarda P, Edery P, Isidor B, Jost B, Olivier-Faivre L, Mandel JL, Piton A

J Med Genet. 2014 Nov;51(11):724-36

20 ans apres: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.

Piton A, Poquet H, Redin C, Masurel A, Lauer J, Muller J, Thevenon J, Herenger Y, Chancenotte S, Bonnet M, Pinoit JM, Huet F, Thauvin-Robinet C, Jaeger AS, Le Gras S, Jost B, Gerard B, Peoc'h K, Launay JM, Faivre L, Mandel JL

Eur J Hum Genet. 2014 Jun;22(6):776-83

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.

M'hamdi O, Redin C, Stoetzel C, Ouertani I, Chaabouni M, Maazoul F, M'rad R, Mandel JL, Dollfus H, Muller J, Chaabouni H

Clin Genet. 2014 Feb;85(2):172-7

Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.

Bonnefond A, Philippe J, Durand E, Muller J, Saeed S, Arslan M, Martinez R, De Graeve F, Dhennin V, Rabearivelo I, Polak M, Cave H, Castano L, Vaxillaire M, Mandel JL, Sand O, Froguel P

Diabetes Care. 2014 Feb;37(2):460-7

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.

Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schule R, Schols L, Aldaz CM, Koenig M

Brain. 2014 Feb;137(Pt 2):411-9

Linear and extended: a common polyglutamine conformation recognized by the three antibodies MW1, 1C2 and 3B5H10.

Klein FA, Zeder-Lutz G, Cousido-Siah A, Mitschler A, Katz A, Eberling P, Mandel JL, Podjarny A, Trottier Y

Hum Mol Genet. 2013 Oct 15;22(20):4215-23

Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways.

Al-Qusairi L, Prokic I, Amoasii L, Kretz C, Messaddeq N, Mandel JL, Laporte J

FASEB J. 2013 Aug;27(8):3384-94

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.

Piton A, Redin C, Mandel JL

Am J Hum Genet. 2013 Aug 8;93(2):368-83

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

Koutsopoulos OS, Kretz C, Weller CM, Roux A, Mojzisova H, Bohm J, Koch C, Toussaint A, Heckel E, Stemkens D, Ter Horst SA, Thibault C, Koch M, Mehdi SQ, Bijlsma EK, Mandel JL, Vermot J, Laporte J

Eur J Hum Genet. 2013 Jun;21(6):637-42

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

Vasli N, Bohm J, Le Gras S, Muller J, Pizot C, Jost B, Echaniz-Laguna A, Laugel V, Tranchant C, Bernard R, Plewniak F, Vicaire S, Levy N, Chelly J, Mandel JL, Biancalana V, Laporte J

Acta Neuropathol. 2012 Aug;124(2):273-83

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom syndromes.

Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, Mandel JL, Muller J

J Med Genet. 2012 Aug;49(8):502-12

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Bohm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Beroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J

Hum Mutat. 2012 Jun;33(6):949-59

[Genomic revolution of rare disease diagnosis].

Mandel JL

Presse Med. 2012 May;41 Suppl 1:S26-8

Differentiating Alstrom from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing.

Aliferis K, Helle S, Gyapay G, Duchatelet S, Stoetzel C, Mandel JL, Dollfus H

Ophthalmic Genet. 2012 Mar;33(1):18-22

G-quadruplex RNA structure as a signal for neurite mRNA targeting.

Subramanian M, Rage F, Tabet R, Flatter E, Mandel JL, Moine H

EMBO Rep. 2011 Jul 1;12(7):697-704

Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness.

Cowling BS, Toussaint A, Amoasii L, Koebel P, Ferry A, Davignon L, Nishino I, Mandel JL, Laporte J

Am J Pathol. 2011 May;178(5):2224-35.

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.

Schaefer E, Durand M, Stoetzel C, Doray B, Viville B, Helle S, Danse JM, Hamel C, Bitoun P, Goldenberg A, Finck S, Faivre L, Sigaudy S, Holder M, Vincent MC, Marion V, Bonneau D, Verloes A, Nisand I, Mandel JL, Dollfus H

Eur J Med Genet. 2011 Mar-Apr;54(2):157-60

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.

Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, Schwab Y, Yis U, Maisonobe T, Stojkovic T, Wallgren-Pettersson C, Laugel V, Echaniz-Laguna A, Mandel JL, Nishino I, Laporte J

Acta Neuropathol. 2011 Feb;121(2):253-66

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.

Cossee M, Faivre L, Philippe C, Hichri H, de Saint-Martin A, Laugel V, Bahi-Buisson N, Lemaitre JF, Leheup B, Delobel B, Demeer B, Poirier K, Biancalana V, Pinoit JM, Julia S, Chelly J, Devys D, Mandel JL

Am J Med Genet A. 2011 Jan;155A(1):98-105

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

Isidor B, Lindenbaum P, Pichon O, Bezieau 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

Nat Genet. 2011 Mar 6;43(4):306-8.

Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy.

Fourcade S, Ruiz M, Guilera C, Hahnen E, Brichta L, Naudi A, Portero-Otin M, Dacremont G, Cartier N, Wanders R, Kemp S, Mandel JL, Wirth B, Pamplona R, Aubourg P, Pujol A

Hum Mol Genet. 2010 May 15;19(10):2005-14

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

Braida C, Stefanatos RK, Adam B, Mahajan N, Smeets HJ, Niel F, Goizet C, Arveiler B, Koenig M, Lagier-Tourenne C, Mandel JL, Faber CG, de Die-Smulders CE, Spaans F, Monckton DG

Hum Mol Genet. 2010 Apr 15;19(8):1399-412

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Helle S, Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, Francannet C, Roume J, Bitoun P, Goldenberg A, Philip N, Odent S, Green J, Cossee M, Davis EE, Katsanis N, Bonneau D, Verloes A, Poch O, Mandel JL, Dollfus H

Hum Genet. 2010 Mar;127(5):583-93

SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases.

Friedrich A, Garnier N, Gagniere N, Nguyen H, Albou LP, Biancalana V, Bettler E, Deleage G, Lecompte O, Muller J, Moras D, Mandel JL, Toursel T, Moulinier L, Poch O

Hum Mutat. 2010 Feb;31(2):127-35.

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.

Al-Qusairi L, Weiss N, Toussaint A, Berbey C, Messaddeq N, Kretz C, Sanoudou D, Beggs AH, Allard B, Mandel JL, Laporte J, Jacquemond V, Buj-Bello A

Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18763-8

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.

Marion V, Stoetzel C, Schlicht D, Messaddeq N, Koch M, Flori E, Danse JM, Mandel JL, Dollfus H

Proc Natl Acad Sci U S A. 2009 Feb 10;106(6):1820-5

Cells lacking the fragile X mental retardation protein (FMRP) have normal RISC activity but exhibit altered stress granule assembly.

Didiot MC, Subramanian M, Flatter E, Mandel JL, Moine H

Mol Biol Cell. 2009 Jan;20(1):428-37

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.

Anheim M, Lagier-Tourenne C, Stevanin G, Fleury M, Durr A, Namer IJ, Denora P, Brice A, Mandel JL, Koenig M, Tranchant C

J Neurol. 2009 Jan;256(1):104-8

The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer.

Didiot MC, Tian Z, Schaeffer C, Subramanian M, Mandel JL, Moine H

Nucleic Acids Res. 2008 Sep;36(15):4902-12

[Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy]

Toussaint A, Nicot AS, Mandel JL, Laporte J

Med Sci (Paris). 2007 Dec;23(12):1080-2.

Pathogenic and non-pathogenic polyglutamine tracts have similar structural properties: towards a length-dependent toxicity gradient.

Klein FA, Pastore A, Masino L, Zeder-Lutz G, Nierengarten H, Oulad-Abdelghani M, Altschuh D, Mandel JL, Trottier Y

J Mol Biol. 2007 Aug 3;371(1):235-44

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.

Tosch V, Rohde HM, Tronchere H, Zanoteli E, Monroy N, Kretz C, Dondaine N, Payrastre B, Mandel JL, Laporte J

Hum Mol Genet. 2006 Nov 1;15(21):3098-106

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, Salem N, Chouery E, Poch O, Licaire S, Danse JM, Amati-Bonneau P, Bonneau D, Megarbane A, Mandel JL, Dollfus H

Eur J Hum Genet. 2006 Nov;14(11):1195-203

[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)].

Dollfus H, Muller J, Stoetzel C, Laurier V, Bonneau D, Megarbane A, Poch O, Mandel JL

Med Sci (Paris). 2006 Nov;22(11):901-4.

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Megarbane A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H

Nat Genet. 2006 May;38(5):521-4

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.

Cossee M, Demeer B, Blanchet P, Echenne B, Singh D, Hagens O, Antin M, Finck S, Vallee L, Dollfus H, Hegde S, Springell K, Thelma BK, Woods G, Kalscheuer V, Mandel JL

Eur J Hum Genet. 2006 Apr;14(4):418-25.

Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program.

Abou-Sleymane G, Chalmel F, Helmlinger D, Lardenois A, Thibault C, Weber C, Merienne K, Mandel JL, Poch O, Devys D, Trottier Y

Hum Mol Genet. 2006 Mar 1;15(5):691-703

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.

Stoetzel C, Laurier V, Faivre L, Megarbane A, Perrin-Schmitt F, Verloes A, Bonneau D, Mandel JL, Cossee M, Dollfus H

J Hum Genet. 2006;51(1):81-4

Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage.

Ferrer I, Kapfhammer JP, Hindelang C, Kemp S, Troffer-Charlier N, Broccoli V, Callyzot N, Mooyer P, Selhorst J, Vreken P, Wanders RJ, Mandel JL, Pujol A

Hum Mol Genet. 2005 Dec 1;14(23):3565-77

Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

Hichri H, Stoetzel C, Laurier V, Caron S, Sigaudy S, Sarda P, Hamel C, Martin-Coignard D, Gilles M, Leheup B, Holder M, Kaplan J, Bitoun P, Lacombe D, Verloes A, Bonneau D, Perrin-Schmitt F, Brandt C, Besancon AF, Mandel JL, Cossee M, Dollfus H

Eur J Hum Genet. 2005 May;13(5):607-16.

Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy.

Zanoteli E, Laporte J, Rocha JC, Kretz C, Oliveira AS, Mandel JL, Perez AB, Gabbai AA, Buj-Bello A

Am J Med Genet A. 2005 Apr 30;134(3):338-40.

FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts.

Castets M, Schaeffer C, Bechara E, Schenck A, Khandjian EW, Luche S, Moine H, Rabilloud T, Mandel JL, Bardoni B

Hum Mol Genet. 2005 Mar 15;14(6):835-44

Workgroup II: the screening process. UICC International Workshop on Facilitating Screening for Colorectal Cancer, Oslo, Norway (29 and 30 June 2002).

Winawer S, Faivre J, Selby J, Bertaro L, Chen TH, Kroborg O, Levin B, Mandel J, O'Morain C, Richards M, Rennert G, Russo A, Saito H, Semigfnovsky B, Wong B, Smith R

Ann Oncol. 2005 Jan;16(1):31-3.

Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes.

Helmlinger D, Hardy S, Sasorith S, Klein F, Robert F, Weber C, Miguet L, Potier N, Van-Dorsselaer A, Wurtz JM, Mandel JL, Tora L, Devys D

Hum. Mol. Genet.. 2004 Jun;13(12):1257-65

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR, Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL

Hum Genet. 2003 Feb;112(2):135-42

Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells.

Buj-Bello A, Furling D, Tronchère H, Laporte J, Lerouge T, Butler-Browne GS, Mandel JL

Hum. Mol. Genet.. 2002 Sep;11(19):2297-307

MTM1 mutations in X-linked myotubular myopathy.

Laporte J, Biancalana V, Tanner SM, Kress W, Schneider V, Wallgren-Pettersson C, Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S, Mandel JL

Hum Mutat. 2000;15(5):393-409.

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation.

Merienne K, Jacquot S, Pannetier S, Zeniou M, Bankier A, Gecz J, Mandel JL, Mulley J, Sassone-Corsi P, Hanauer A

Nat. Genet.. 1999 May;22(1):13-4

Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males.

Biancalana V, Taine L, Bouix JC, Finck S, Chauvin A, De Verneuil H, Knight SJ, Stoll C, Lacombe D, Mandel JL

Am. J. Hum. Genet.. 1996 Oct;59(4):847-54

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.

Hu LJ, Laporte J, Kress W, Kioschis P, Siebenhaar R, Poustka A, Fardeau M, Metzenberg A, Janssen EA, Thomas N, Mandel JL, Dahl N

Hum. Mol. Genet.. 1996 Jan;5(1):139-43

X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).

Dahl N, Samson F, Thomas NS, Hu LJ, Gong W, Herman G, Laporte J, Kioschis P, Poustka A, Mandel JL

J. Med. Genet.. 1994 Dec;31(12):922-4

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