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Page 1
An axis of genetic heterogeneity in autism is indexed by age at diagnosis and is associated with varying developmental and mental health profiles.
Zhang X, Grove J, Gu Y, Buus CK, Nielsen LK, Neufeld SAS, Koko M, Malawsky DS, Wade E, Verhoef E, Gui A, Hegemann L; APEX consortium; iPSYCH Autism Consortium; PGC-PTSD Consortium; Geschwind DH, Wray NR, Havdahl A, Ronald A, St Pourcain B, Robinson EB, Bourgeron T, Baron-Cohen S, Børglum AD, Martin HC, Warrier V. Zhang X, et al. Among authors: robinson eb. medRxiv [Preprint]. 2024 Aug 2:2024.07.31.24311279. doi: 10.1101/2024.07.31.24311279. medRxiv. 2024. PMID: 39132493 Free PMC article. Preprint.
Transcriptome-wide characterization of genetic perturbations.
Nadig A, Replogle JM, Pogson AN, McCarroll SA, Weissman JS, Robinson EB, O'Connor LJ. Nadig A, et al. Among authors: robinson eb. bioRxiv [Preprint]. 2024 Jul 3:2024.07.03.601903. doi: 10.1101/2024.07.03.601903. bioRxiv. 2024. PMID: 39005298 Free PMC article. Preprint.
Parental perspectives regarding the return of genomic research results in neurodevelopmental disorders in South Africa: anticipated impact and preferences.
Diedericks A, Bruwer Z, Laing N, Eastman E, De Vries J, Newton CR, Abubakar A, Robinson EB, Donald KA; NeuroDev study. Diedericks A, et al. Among authors: robinson eb. J Community Genet. 2024 Oct;15(5):539-548. doi: 10.1007/s12687-024-00723-w. Epub 2024 Aug 2. J Community Genet. 2024. PMID: 39090365 Free PMC article.
Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation.
Carey CE, Shafee R, Wedow R, Elliott A, Palmer DS, Compitello J, Kanai M, Abbott L, Schultz P, Karczewski KJ, Bryant SC, Cusick CM, Churchhouse C, Howrigan DP, King D, Davey Smith G, Neale BM, Walters RK, Robinson EB. Carey CE, et al. Among authors: robinson eb. Nat Hum Behav. 2024 Aug;8(8):1599-1615. doi: 10.1038/s41562-024-01909-5. Epub 2024 Jul 4. Nat Hum Behav. 2024. PMID: 38965376 Free PMC article.
Parental Perspectives Regarding the Return of Genomic Research Results in Neurodevelopmental Disorders in South Africa: Anticipated Impact and Preferences.
Diedericks A, Bruwer Z, Laing N, Eastman E, De Vries JV, Donald KA, Robinson EB, Newton CR, Abubakar A. Diedericks A, et al. Among authors: robinson eb. Res Sq [Preprint]. 2024 Jun 11:rs.3.rs-4448155. doi: 10.21203/rs.3.rs-4448155/v1. Res Sq. 2024. Update in: J Community Genet. 2024 Oct;15(5):539-548. doi: 10.1007/s12687-024-00723-w PMID: 38946993 Free PMC article. Updated. Preprint.
Phenotypic and ancestry-related assortative mating in autism.
Zhang J, Weissenkampen JD, Kember RL; iPSYCH Consortium; Grove J, Børglum AD, Robinson EB, Brodkin ES, Almasy L, Bucan M, Sebro R. Zhang J, et al. Among authors: robinson eb. Mol Autism. 2024 Jun 14;15(1):27. doi: 10.1186/s13229-024-00605-5. Mol Autism. 2024. PMID: 38877467 Free PMC article.
Phenotype and genetic analysis of data collected within the first year of NeuroDev.
Kipkemoi P, Kim HA, Christ B, O'Heir E, Allen J, Austin-Tse C, Baxter S, Brand H, Bryant S, Buser N, de Menil V, Eastman E, Murugasen S, Galvin A, Kombe M, Ngombo A, Mkubwa B, Mwangi P, Kipkoech C, Lovgren A, MacArthur DG, Melly B, Mwangasha K, Martin A, Nkambule LL, Sanchis-Juan A, Singer-Berk M, Talkowski ME, VanNoy G, van der Merwe C; NeuroDev Project; Newton C, O'Donnell-Luria A, Abubakar A, Donald KA, Robinson EB. Kipkemoi P, et al. Among authors: robinson eb. Neuron. 2023 Sep 20;111(18):2800-2810.e5. doi: 10.1016/j.neuron.2023.06.010. Epub 2023 Jul 17. Neuron. 2023. PMID: 37463579 Free article.
The female protective effect against autism spectrum disorder.
Wigdor EM, Weiner DJ, Grove J, Fu JM, Thompson WK, Carey CE, Baya N, van der Merwe C, Walters RK, Satterstrom FK, Palmer DS, Rosengren A, Bybjerg-Grauholm J; iPSYCH Consortium; Hougaard DM, Mortensen PB, Daly MJ, Talkowski ME, Sanders SJ, Bishop SL, Børglum AD, Robinson EB. Wigdor EM, et al. Among authors: robinson eb. Cell Genom. 2022 Jun 8;2(6):100134. doi: 10.1016/j.xgen.2022.100134. eCollection 2022 Jun 8. Cell Genom. 2022. PMID: 36778135 Free PMC article.
Polygenic architecture of rare coding variation across 394,783 exomes.
Weiner DJ, Nadig A, Jagadeesh KA, Dey KK, Neale BM, Robinson EB, Karczewski KJ, O'Connor LJ. Weiner DJ, et al. Among authors: robinson eb. Nature. 2023 Feb;614(7948):492-499. doi: 10.1038/s41586-022-05684-z. Epub 2023 Feb 8. Nature. 2023. PMID: 36755099 Free PMC article.
72 results