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Page 1
Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.
Roessler F, Beck AE, Susie B, Tobias B, Begtrup A, Biskup S, Caluseriu O, Delanty N, Fröhlich C, Greally MT, Karnstedt M, Klöckner C, Kurtzberg J, Schubert S, Schulze M, Weidenbach M, Westphal DS, White M, Wolf CM, Zyskind J, Popp B, Strehlow V. Roessler F, et al. Among authors: delanty n. Am J Med Genet A. 2023 Feb;191(2):469-478. doi: 10.1002/ajmg.a.63044. Epub 2022 Nov 25. Am J Med Genet A. 2023. PMID: 36426740 Review.
Germline mosaicism in a family with MBD5 haploinsufficiency.
Bhatia M, Cavalleri GL, White M, Delanty N, Sweeney BJ, Costello DJ, Greally MT, Benson KA. Bhatia M, et al. Among authors: delanty n. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006253. doi: 10.1101/mcs.a006253. Print 2022 Dec. Cold Spring Harb Mol Case Stud. 2022. PMID: 36396431 Free PMC article.
Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin.
Boothman I, Clayton LM, McCormack M, Driscoll AM, Stevelink R, Moloney P, Krause R, Kunz WS, Diehl S, O'Brien TJ, Sills GJ, de Haan GJ, Zara F, Koeleman BP, Depondt C, Marson AG, Stefansson H, Stefansson K, Craig J, Johnson MR, Striano P, Lerche H, Furney SJ, Delanty N; Consortium EpiPGX; Sisodiya SM, Cavalleri GL. Boothman I, et al. Among authors: delanty n. Front Neurosci. 2023 Sep 8;17:1156362. doi: 10.3389/fnins.2023.1156362. eCollection 2023. Front Neurosci. 2023. PMID: 37790589 Free PMC article.
Erratum to ' Taking action on climate change: Testimonials and position statement from the International League Against Epilepsy Climate Change Commission' [Seizure Volume 106, March 2023, Pages 68-75].
Aledo-Serrano A, Battaglia G, Blenkinsop S, Delanty N, Elbendary HM, Eyal S, Guekht A, Gulcebi MI, Henshall DC, Hildebrand MS, Macrohon B, Madaan P, Mifsud J, Mills JD, Neill KH, Romagnolo A, Vezzani A, Sisodiya SM. Aledo-Serrano A, et al. Among authors: delanty n. Seizure. 2023 Oct;111:164. doi: 10.1016/j.seizure.2023.08.013. Epub 2023 Aug 26. Seizure. 2023. PMID: 37639957 Free article. No abstract available.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Novel risk loci in LGI1-antibody encephalitis: genome-wide association study discovery and validation cohorts.
Binks SNM, Elliott KS, Muñiz-Castrillo S, Gilbert E, Kawasaki de Araujo T, Harper AR, Brown AC, Chong AY, Band G, Peris Sempere V, Pinto AL, Costantino F, Rayner NW, Mentzer AJ, Delanty N, Rogemond V, Picard G, Handel AE, Melzer N, Titulaer MJ, Lee ST, Leypoldt F, Kuhlenbaeumer G, Honnorat J, Mignot E, Cavelleri GL, Knight JC, Irani SR. Binks SNM, et al. Among authors: delanty n. Brain. 2024 Oct 26:awae349. doi: 10.1093/brain/awae349. Online ahead of print. Brain. 2024. PMID: 39454566
292 results