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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: tumer z. Biol Psychiatry. 2024 Jul 15;96(2):114-124. doi: 10.1016/j.biopsych.2023.01.023. Epub 2023 Feb 2. Biol Psychiatry. 2024. PMID: 36738982
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: tumer z. Transl Psychiatry. 2023 Feb 23;13(1):69. doi: 10.1038/s41398-023-02341-5. Transl Psychiatry. 2023. PMID: 36823209 Free PMC article.
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia … See abstract for full author list ➔ Li D, et al. Among authors: tumer z. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.
Mackay DJG, Gazdagh G, Monk D, Brioude F, Giabicani E, Krzyzewska IM, Kalish JM, Maas SM, Kagami M, Beygo J, Kahre T, Tenorio-Castano J, Ambrozaitytė L, Burnytė B, Cerrato F, Davies JH, Ferrero GB, Fjodorova O, Manero-Azua A, Pereda A, Russo S, Tannorella P, Temple KI, Õunap K, Riccio A, de Nanclares GP, Maher ER, Lapunzina P, Netchine I, Eggermann T, Bliek J, Tümer Z. Mackay DJG, et al. Among authors: tumer z. Clin Epigenetics. 2024 Aug 1;16(1):99. doi: 10.1186/s13148-024-01713-y. Clin Epigenetics. 2024. PMID: 39090763 Free PMC article. Review.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Rinaldi B, et al. Among authors: tumer z. Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403. Brain. 2024. PMID: 38038360 Free PMC article.
Further delineation of the SCAF4-associated neurodevelopmental disorder.
Schmid CM, Gregor A, Ruiz A, Manso Bazús C, Herman I, Ammouri F, Kotzaeridou U, McNiven V, Dupuis L, Steindl K, Begemann A, Rauch A, Suter AA, Isidor B, Mercier S, Nizon M, Cogné B, Deb W, Besnard T, Haack TB, Falb RJ, Müller AJ, Linden T, Haldeman-Englert CR, Ockeloen CW, Mattioli F, Reymond A, Ibrahim N, Naz S, Lacaze E, Bassetti JA, Hoefele J, Brunet T, Riedhammer KM, Elloumi HZ, Person R, Zou F, Kahle JJ, Cremer K, Schmidt A, Delrue MA, Almeida PM, Ramos F, Srivastava S, Quinlan A, Robertson S, Manka E, Kuechler A, Spranger S, Nowaczyk MJM, Elshafie RM, Alsharhan H, Hillman PR, Dunnington LA, Braakman HMH, McKee S, Moresco A, Ignat AD, Newbury-Ecob R, Banneau G, Patat O, Kuerbitz J, Rzucidlo S, Sell SS, Gordon P, Schuhmann S, Reis A, Halleb Y, Stoeva R, Keren B, Al Masseri Z, Tümer Z, Hammer-Hansen S, Krüger Sølyst S, Steigerwald CG, Abreu NJ, Faust H, Müller-Nedebock A, Tran Mau-Them F, Sticht H, Zweier C. Schmid CM, et al. Among authors: tumer z. Eur J Hum Genet. 2024 Dec 12. doi: 10.1038/s41431-024-01760-2. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39668183
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, Jemt A, Nilsson D, Eisfeldt J, Bilgrav Saether K, Höijer I, Akgun-Dogan O, Asano Y, Barakat TS, Batkovskyte D, Baynam G, Bodamer O, Chetruengchai W, Corcoran P, Couse M, Danis D, Demidov G, Dohi E, Erhardsson M, Fernandez-Luna L, Fujiwara T, Garg N, Giugliani R, Gonzaga-Jauregui C, Grigelioniene G, Groza T, Gunnarsson C, Hammarsjö A, Hammond CK, Hatirnaz Ng Ö, Hesketh S, Hettiarachchi D, Johansson Soller M, Kirmani UA, Kjellberg M, Kvarnung M, Kvlividze O, Lagerstedt-Robinson K, Lasko P, Lassmann T, Lau LYS, Laurie S, Lim WK, Liu Z, Lysenkova Wiklander M, Makay P, Maiga AB, Maya-González C, Meyn MS, Neethiraj R, Nigro V, Nordgren F, Nordlund J, Orrsjö S, Ottosson J, Ozbek U, Özdemir Ö, Partin C, Pearce DA, Peck R, Pedersen A, Pettersson M, Pongpanich M, Posada de la Paz M, Ramani A, Romero JA, Romero VI, Rosenquist R, Saw AM, Spencer M, Stattin EL, Srichomthong C, Tapia-Paez I, Taruscio D, Taylor JP, Tkemaladze T, Tully I, Tümer Z, van Zelst-Stams WAG, Verloes A, Västerviga E, Wang S, Yang R, Yamamoto S, Yépez VA, Zhang Q, Shotelersuk V, Wiafe SA, Alanay Y, Botto LD, Kirmani S, Lumaka A, Palmer EE, Puri RD,… See abstract for full author list ➔ Delgado-Vega AM, et al. Among authors: tumer z. Nat Genet. 2024 Nov;56(11):2287-2294. doi: 10.1038/s41588-024-01941-1. Nat Genet. 2024. PMID: 39433890 No abstract available.
238 results