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Home > Our Research Activities > List Of Publications > Page 18

List of Publications

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  • Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

    Aref-Eshghi E, Kerkhof J, Pedro VP, Groupe DI France, Barat-Houari M, Ruiz-Pallares N, Andrau J-C, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci TB, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA, DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B

    American journal of human genetics. 2020;106(3):356–70

  • De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy  

    Nabais Sá MJ, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, Piton A, Vincent-Delorme C, Zweier C, Reis A, Trollmann R, Ruiz A, Gabau E, Vetro A, Guerrini R, Bakhtiari S, Kruer MC, Amor DJ, Cooper MS, Bijlsma EK, Barakat TS, van Dooren MF, van Slegtenhorst M, Pfundt R, Gilissen C, Willemsen MA, de Vries BBA, de Brouwer APM, Koolen DA

    Genetics in medicine : official journal of the American College of Medical Genetics. 2020;22(4):797–802

  • Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

    Chevarin M, Duffourd Y, A Barnard R, Moutton S, Lecoquierre F, Daoud F, Kuentz P, Cabret C, Thevenon J, Gautier E, Callier P, St-Onge J, Jouan T, Lacombe D, Delrue MA, Goizet C, Morice-Picard F, Van-Gils J, Munnich A, Lyonnet S, Cormier-Daire V, Baujat G, Holder M, Petit F, Leheup B, Odent S, Jouk P-S, Lopez G, Geneviève D, Collignon P, Martin-Coignard D, Jacquette A, Perrin L, Putoux A, Sarrazin E, Amarof K, Missotte I, Coubes C, Jagadeesh S, Lapi E, Demurger F, Goldenberg A, Doco-Fenzy M, Mignot C, Héron D, Jean-Marçais N, Masurel A, el Chehadeh S, Marle N, Huet F, Binquet C, Collod-Beroud G, Arnaud P, Hanna N, Boileau C, Jondeau G, Olaso R, Lechner D, Poe C, Assoum M, Carmignac V, Duplomb L, Tran Mau-Them F, Philippe C, Vitobello A, Bruel A-L, Boland A, Deleuze J-F, Thauvin-Robinet C, Rivière J-B, O’Roak BJ, Faivre L

    Journal of medical genetics. 2020;57(7):466–74

  • Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3

    de Sainte Agathe J-M, Van-Gils J, Lasseaux E, Arveiler B, Lacombe D, Pfirrmann C, Raclet V, Gaston L, Plaisant C, Aupy J, Trimouille A

    European Journal of Medical Genetics. 2020 Aug;63(8):103942

  • A. Triple diagnosis of Wiedemann‐Steiner, Waardenburg and DLG3‐related intellectual disability association found by WES: A case report

    Matis T, Michaud V, Van‐Gils J, Raclet V, Plaisant C, Fergelot P, Lasseaux E, Arveiler B, Trimouille A

    The Journal of Gene Medicine. 2020 Aug 19;22(8)

  • Lentiginosis and café‐au‐lait macules as part of the phenotypic spectrum of PAX3‐related disorders

    Morice‐Picard F, Letertre O, Lasseaux E, Cario‐Andre M, Arveiler B, Taieb A

    Clinical and Experimental Dermatology. 2020 Jul 10;45(5):621–3

  • Mitochondrial functions and rare diseases  

    Dard L, Blanchard W, Hubert C, Lacombe D, Rossignol R

    Molecular aspects of medicine. 2020;71:100842

  • Dopachrome tautomerase variants in patients with oculocutaneous albinism

    Pennamen P, Tingaud-Sequeira A, Gazova I, Keighren M, McKie L, Marlin S, Gherbi Halem S, Kaplan J, Delevoye C, Lacombe D, Plaisant C, Michaud V, Lasseaux E, Javerzat S, Jackson I, Arveiler B

    Genetics in Medicine. 2021 Mar;23(3):479–87

  • BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

    Pennamen P, Le L, Tingaud-Sequeira A, Fiore M, Bauters A, van Duong Béatrice N, Coste V, Bordet J-C, Plaisant C, Diallo M, Michaud V, Trimouille A, Lacombe D, Lasseaux E, Delevoye C, Picard FM, Delobel B, Marks MS, Arveiler B

    Genetics in Medicine. 2020 Oct;22(10):1613–22

  • Nuclear control of lung cancer cells migration, invasion and bioenergetics by eukaryotic translation initiation factor 3F

    Esteves P, Dard L, Brillac A, Hubert C, Sarlak S, Rousseau B, Dumon E, Izotte J, Bonneu M, Lacombe D, Dupuy J-W, Amoedo N, Rossignol R

    Oncogene. 2020;39(3):617–36

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