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Page 1
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Pavinato L, Stanic J, Barzasi M, Gurgone A, Chiantia G, Cipriani V, Eberini I, Palazzolo L, Di Luca M, Costa A, Marcantoni A, Biamino E, Spada M, Hiatt SM, Kelley WV, Vestito L, Sisodiya SM; Genomics England Research Consortium; Efthymiou S, Chand P, Kaiyrzhanov R, Bruselles A, Cardaropoli S, Tartaglia M, De Rubeis S, Buxbaum JD, Smedley D, Ferrero GB, Giustetto M, Gardoni F, Brusco A. Pavinato L, et al. Among authors: sisodiya sm. Genet Med. 2023 Nov;25(11):100922. doi: 10.1016/j.gim.2023.100922. Epub 2023 Jul 1. Genet Med. 2023. PMID: 37403762 Free article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers.
Boen R, Kaufmann T, van der Meer D, Frei O, Agartz I, Ames D, Andersson M, Armstrong NJ, Artiges E, Atkins JR, Bauer J, Benedetti F, Boomsma DI, Brodaty H, Brosch K, Buckner RL, Cairns MJ, Calhoun V, Caspers S, Cichon S, Corvin AP, Crespo-Facorro B, Dannlowski U, David FS, de Geus EJC, de Zubicaray GI, Desrivières S, Doherty JL, Donohoe G, Ehrlich S, Eising E, Espeseth T, Fisher SE, Forstner AJ, Fortaner-Uyà L, Frouin V, Fukunaga M, Ge T, Glahn DC, Goltermann J, Grabe HJ, Green MJ, Groenewold NA, Grotegerd D, Grøntvedt GR, Hahn T, Hashimoto R, Hehir-Kwa JY, Henskens FA, Holmes AJ, Håberg AK, Haavik J, Jacquemont S, Jansen A, Jockwitz C, Jönsson EG, Kikuchi M, Kircher T, Kumar K, Le Hellard S, Leu C, Linden DE, Liu J, Loughnan R, Mather KA, McMahon KL, McRae AF, Medland SE, Meinert S, Moreau CA, Morris DW, Mowry BJ, Mühleisen TW, Nenadić I, Nöthen MM, Nyberg L, Ophoff RA, Owen MJ, Pantelis C, Paolini M, Paus T, Pausova Z, Persson K, Quidé Y, Marques TR, Sachdev PS, Sando SB, Schall U, Scott RJ, Selbæk G, Shumskaya E, Silva AI, Sisodiya SM, Stein F, Stein DJ, Straube B, Streit F, Strike LT, Teumer A, Teutenberg L, Thalamuthu A, Tooney PA, Tordesillas-Gutierrez D, Trollor JN, … See abstract for full author list ➔ Boen R, et al. Among authors: sisodiya sm. Biol Psychiatry. 2024 Jan 15;95(2):147-160. doi: 10.1016/j.biopsych.2023.08.018. Epub 2023 Sep 3. Biol Psychiatry. 2024. PMID: 37661008 Free PMC article.
Genetic variants for head size share genes and pathways with cancer.
Knol MJ, Poot RA, Evans TE, Satizabal CL, Mishra A, Sargurupremraj M, van der Auwera S, Duperron MG, Jian X, Hostettler IC, van Dam-Nolen DHK, Lamballais S, Pawlak MA, Lewis CE, Carrion-Castillo A, van Erp TGM, Reinbold CS, Shin J, Scholz M, Håberg AK, Kämpe A, Li GHY, Avinun R, Atkins JR, Hsu FC, Amod AR, Lam M, Tsuchida A, Teunissen MWA, Aygün N, Patel Y, Liang D, Beiser AS, Beyer F, Bis JC, Bos D, Bryan RN, Bülow R, Caspers S, Catheline G, Cecil CAM, Dalvie S, Dartigues JF, DeCarli C, Enlund-Cerullo M, Ford JM, Franke B, Freedman BI, Friedrich N, Green MJ, Haworth S, Helmer C, Hoffmann P, Homuth G, Ikram MK, Jack CR Jr, Jahanshad N, Jockwitz C, Kamatani Y, Knodt AR, Li S, Lim K, Longstreth WT, Macciardi F; Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium; Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium; Mäkitie O, Mazoyer B, Medland SE, Miyamoto S, Moebus S, Mosley TH, Muetzel R, Mühleisen TW, Nagata M, Nakahara S, Palmer ND, Pausova Z, Preda A, Quidé Y, Reay WR, Roshchupkin GV, Schmidt R, Schreiner PJ, Setoh K, Shapland CY, Sidney S, St Pourcain B, Stein JL, Tabara Y, Teumer A, Uhlmann A, van der Lugt A, Vernooij MW, We… See abstract for full author list ➔ Knol MJ, et al. Cell Rep Med. 2024 May 21;5(5):101529. doi: 10.1016/j.xcrm.2024.101529. Epub 2024 May 3. Cell Rep Med. 2024. PMID: 38703765
Climate change and disorders of the nervous system.
Sisodiya SM, Gulcebi MI, Fortunato F, Mills JD, Haynes E, Bramon E, Chadwick P, Ciccarelli O, David AS, De Meyer K, Fox NC, Davan Wetton J, Koltzenburg M, Kullmann DM, Kurian MA, Manji H, Maslin MA, Matharu M, Montgomery H, Romanello M, Werring DJ, Zhang L, Friston KJ, Hanna MG. Sisodiya SM, et al. Lancet Neurol. 2024 Jun;23(6):636-648. doi: 10.1016/S1474-4422(24)00087-5. Lancet Neurol. 2024. PMID: 38760101 Review.
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: sisodiya sm. medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438. medRxiv. 2024. PMID: 38645094 Free PMC article. Preprint.
COVID-19 response in a long-term care facility for people with epilepsy.
Delazer L, Pressler N, Balestrini S, Xiao F, Clayton LM, Anders-Cannon J, Salvatierra R, Henry I, Sisodiya SM, Sander JW, Koepp MJ. Delazer L, et al. Among authors: sisodiya sm. Epilepsia Open. 2024 Apr 9. doi: 10.1002/epi4.12940. Online ahead of print. Epilepsia Open. 2024. PMID: 38593277 Free article.
398 results