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Page 1
Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome.
Tsetsos F, Topaloudi A, Jain P, Yang Z, Yu D, Kolovos P, Tumer Z, Rizzo R, Hartmann A, Depienne C, Worbe Y, Müller-Vahl KR, Cath DC, Boomsma DI, Wolanczyk T, Zekanowski C, Barta C, Nemoda Z, Tarnok Z, Padmanabhuni SS, Buxbaum JD, Grice D, Glennon J, Stefansson H, Hengerer B, Yannaki E, Stamatoyannopoulos JA, Benaroya-Milshtein N, Cardona F, Hedderly T, Heyman I, Huyser C, Mir P, Morer A, Mueller N, Munchau A, Plessen KJ, Porcelli C, Roessner V, Walitza S, Schrag A, Martino D; PGC TS Working Group; TSAICG; TSGeneSEE Initiative; EMTICS Collaborative Group; TS-EUROTRAIN Network; TIC Genetics Collaborative Group; Tischfield JA, Heiman GA, Willsey AJ, Dietrich A, Davis LK, Crowley JJ, Mathews CA, Scharf JM, Georgitsi M, Hoekstra PJ, Paschou P. Tsetsos F, et al. Among authors: depienne c. Biol Psychiatry. 2023 Feb 2:S0006-3223(23)00051-3. doi: 10.1016/j.biopsych.2023.01.023. Online ahead of print. Biol Psychiatry. 2023. PMID: 36738982
Genetic association signal near NTN4 in Tourette syndrome.
Paschou P, Yu D, Gerber G, Evans P, Tsetsos F, Davis LK, Karagiannidis I, Chaponis J, Gamazon E, Mueller-Vahl K, Stuhrmann M, Schloegelhofer M, Stamenkovic M, Hebebrand J, Noethen M, Nagy P, Barta C, Tarnok Z, Rizzo R, Depienne C, Worbe Y, Hartmann A, Cath DC, Budman CL, Sandor P, Barr C, Wolanczyk T, Singer H, Chou IC, Grados M, Posthuma D, Rouleau GA, Aschauer H, Freimer NB, Pauls DL, Cox NJ, Mathews CA, Scharf JM. Paschou P, et al. Among authors: depienne c. Ann Neurol. 2014 Aug;76(2):310-5. doi: 10.1002/ana.24215. Epub 2014 Jul 21. Ann Neurol. 2014. PMID: 25042818 Free PMC article.
Synaptic processes and immune-related pathways implicated in Tourette syndrome.
Tsetsos F, Yu D, Sul JH, Huang AY, Illmann C, Osiecki L, Darrow SM, Hirschtritt ME, Greenberg E, Muller-Vahl KR, Stuhrmann M, Dion Y, Rouleau GA, Aschauer H, Stamenkovic M, Schlögelhofer M, Sandor P, Barr CL, Grados MA, Singer HS, Nöthen MM, Hebebrand J, Hinney A, King RA, Fernandez TV, Barta C, Tarnok Z, Nagy P, Depienne C, Worbe Y, Hartmann A, Budman CL, Rizzo R, Lyon GJ, McMahon WM, Batterson JR, Cath DC, Malaty IA, Okun MS, Berlin C, Woods DW, Lee PC, Jankovic J, Robertson MM, Gilbert DL, Brown LW, Coffey BJ, Dietrich A, Hoekstra PJ, Kuperman S, Zinner SH, Wagner M, Knowles JA, Jeremy Willsey A, Tischfield JA, Heiman GA, Cox NJ, Freimer NB, Neale BM, Davis LK, Coppola G, Mathews CA, Scharf JM, Paschou P; Tourette Association of America International Consortium for Genetics; Barr CL, Batterson JR, Berlin C, Budman CL, Cath DC, Coppola G, Cox NJ, Darrow S, Davis LK, Dion Y, Freimer NB, Grados MA, Greenberg E, Hirschtritt ME, Huang AY, Illmann C, King RA, Kurlan R, Leckman JF, Lyon GJ, Malaty IA, Mathews CA, McMahon WM, Neale BM, Okun MS, Osiecki L, Robertson MM, Rouleau GA, Sandor P, Scharf JM, Singer HS, Smit JH, Sul JH, Yu D; Gilles de la Tourette GWAS Replication Initi… See abstract for full author list ➔ Tsetsos F, et al. Among authors: depienne c. Transl Psychiatry. 2021 Jan 18;11(1):56. doi: 10.1038/s41398-020-01082-z. Transl Psychiatry. 2021. PMID: 33462189 Free PMC article.
Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome.
Jain P, Miller-Fleming T, Topaloudi A, Yu D, Drineas P, Georgitsi M, Yang Z, Rizzo R, Müller-Vahl KR, Tumer Z, Mol Debes N, Hartmann A, Depienne C, Worbe Y, Mir P, Cath DC, Boomsma DI, Roessner V, Wolanczyk T, Janik P, Szejko N, Zekanowski C, Barta C, Nemoda Z, Tarnok Z, Buxbaum JD, Grice D, Glennon J, Stefansson H, Hengerer B, Benaroya-Milshtein N, Cardona F, Hedderly T, Heyman I, Huyser C, Morer A, Mueller N, Munchau A, Plessen KJ, Porcelli C, Walitza S, Schrag A, Martino D; Psychiatric Genomics Consortium Tourette Syndrome Working Group (PGC-TS); EMTICS collaborative group; Dietrich A; TS-EUROTRAIN Network; Mathews CA, Scharf JM, Hoekstra PJ, Davis LK, Paschou P. Jain P, et al. Among authors: depienne c. Transl Psychiatry. 2023 Feb 23;13(1):69. doi: 10.1038/s41398-023-02341-5. Transl Psychiatry. 2023. PMID: 36823209 Free PMC article.
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Kalm T, Schob C, Völler H, Gardeitchik T, Gilissen C, Pfundt R, Klöckner C, Platzer K, Klabunde-Cherwon A, Ries M, Syrbe S, Beccaria F, Madia F, Scala M, Zara F, Hofstede F, Simon MEH, van Jaarsveld RH, Oegema R, van Gassen KLI, Holwerda SJB, Barakat TS, Bouman A, van Slegtenhorst M, Álvarez S, Fernández-Jaén A, Porta J, Accogli A, Mancardi MM, Striano P, Iacomino M, Chae JH, Jang S, Kim SY, Chitayat D, Mercimek-Andrews S, Depienne C, Kampmeier A, Kuechler A, Surowy H, Bertini ES, Radio FC, Mancini C, Pizzi S, Tartaglia M, Gauthier L, Genevieve D, Tharreau M, Azoulay N, Zaks-Hoffer G, Gilad NK, Orenstein N, Bernard G, Thiffault I, Denecke J, Herget T, Kortüm F, Kubisch C, Bähring R, Kindler S. Kalm T, et al. Among authors: depienne c. Am J Hum Genet. 2024 May 14:S0002-9297(24)00160-5. doi: 10.1016/j.ajhg.2024.04.019. Online ahead of print. Am J Hum Genet. 2024. PMID: 38772379
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin N. Chen Y, et al. Among authors: depienne c. medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438. medRxiv. 2024. PMID: 38645094 Free PMC article. Preprint.
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Gallagher D, Pérez-Palma E, Bruenger T, Ghanty I, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Zuberi SM, Lal D, Brunklaus A. Gallagher D, et al. Among authors: depienne c. Epilepsia. 2024 Apr;65(4):1046-1059. doi: 10.1111/epi.17882. Epub 2024 Feb 27. Epilepsia. 2024. PMID: 38410936
Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia.
Nóbrega PR, R B de Paiva A, Souza KS, de Souza JLB, G S B Lima PL, da Silva DJ, Pitombeira MS, Borges VK, Dias DA, Bispo LM, Santos CF, Freua F, Silva PDS, Alves IS, Portella LB, Cunha PR, Salomao RPA, Pedroso JL, Miyajima VP, Miyajima F, Cali E, Wade C, Sudarsanam A, O'Driscoll M, Hayton T, Barsottini OGP, Klebe S, Kok F, Lucato LT, Houlden H, Depienne C, Lynch DS, Braga-Neto P. Nóbrega PR, et al. Among authors: depienne c. Brain Commun. 2023 Oct 17;6(1):fcad273. doi: 10.1093/braincomms/fcad273. eCollection 2024. Brain Commun. 2023. PMID: 38173802 Free PMC article.
213 results