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Page 1
Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy.
Foronda H, Fu Y, Covarrubias-Pinto A, Bocker HT, González A, Seemann E, Franzka P, Bock A, Bhaskara RM, Liebmann L, Hoffmann ME, Katona I, Koch N, Weis J, Kurth I, Gleeson JG, Reggiori F, Hummer G, Kessels MM, Qualmann B, Mari M, Dikić I, Hübner CA. Foronda H, et al. Among authors: gleeson jg. Nature. 2023 Jun;618(7964):402-410. doi: 10.1038/s41586-023-06090-9. Epub 2023 May 24. Nature. 2023. PMID: 37225994 Free PMC article.
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Fasham J, Huebner AK, Liebmann L, Khalaf-Nazzal R, Maroofian R, Kryeziu N, Wortmann SB, Leslie JS, Ubeyratna N, Mancini GMS, van Slegtenhorst M, Wilke M, Haack TB, Shamseldin HE, Gleeson JG, Almuhaizea M, Dweikat I, Abu-Libdeh B, Daana M, Zaki MS, Wakeling MN, McGavin L, Turnpenny PD, Alkuraya FS, Houlden H, Schlattmann P, Kaila K, Crosby AH, Baple EL, Hübner CA. Fasham J, et al. Among authors: gleeson jg. Brain. 2023 Nov 2;146(11):4547-4561. doi: 10.1093/brain/awad235. Brain. 2023. PMID: 37459438 Free PMC article.
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.
Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, Barrows C, James KN, Stanley V, Nidhiry AS, Khoury S, Howe G, Riley E, Xu X, Copeland B, Wang Y, Kim SH, Kang HC, Schulze-Bonhage A, Haas CA, Urbach H, Prinz M, Limbrick DD Jr, Gurnett CA, Smyth MD, Sattar S, Nespeca M, Gonda DD, Imai K, Takahashi Y, Chen HH, Tsai JW, Conti V, Guerrini R, Devinsky O, Silva WA Jr, Machado HR, Mathern GW, Abyzov A, Baldassari S, Baulac S; Focal Cortical Dysplasia Neurogenetics Consortium; Brain Somatic Mosaicism Network; Gleeson JG. Chung C, et al. Among authors: gleeson jg. Nat Genet. 2023 Feb;55(2):209-220. doi: 10.1038/s41588-022-01276-9. Epub 2023 Jan 12. Nat Genet. 2023. PMID: 36635388 Free PMC article.
Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.
Rodin RE, Dou Y, Kwon M, Sherman MA, D'Gama AM, Doan RN, Rento LM, Girskis KM, Bohrson CL, Kim SN, Nadig A, Luquette LJ, Gulhan DC; Brain Somatic Mosaicism Network; Park PJ, Walsh CA. Rodin RE, et al. Nat Neurosci. 2023 Oct;26(10):1833. doi: 10.1038/s41593-023-01437-x. Nat Neurosci. 2023. PMID: 37644260 No abstract available.
Author Correction: Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia.
Zhu X, Zhou B, Pattni R, Gleason K, Tan C, Kalinowski A, Sloan S, Fiston-Lavier AS, Mariani J, Petrov D, Barres BA, Duncan L, Abyzov A, Vogel H; Brain Somatic Mosaicism Network; Moran JV, Vaccarino FM, Tamminga CA, Levinson DF, Urban AE. Zhu X, et al. Nat Neurosci. 2023 Oct;26(10):1833. doi: 10.1038/s41593-023-01438-w. Nat Neurosci. 2023. PMID: 37648813 No abstract available.
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG, Koch AEA, Meltzer HS, Le J, Au KS, Northrup H, Bot GM, Capra V, Finnell RH, Kibar Z, Lupo PJ, Machado HR, Araújo C, Magana T, Marwan AI, Melikishvili G, Mutchinick OM, Stevenson RE, Yurrita A, Zaki MS, Mumtaz S, Medina-Bereciartu JR, Kolvenbach CM, Shril S, Hildebrandt F, Noureldeen MM, Salem AM, Takahashi Y, Salimi-Dafsari H, Phillips HW, Hanak B, Kara B, Güneş AS, Gonda DD, Kirmani S, Tkemaladze T, Gleeson JG. Vong KI, et al. Among authors: gleeson jg. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. Science. 2024. PMID: 38696583
Stem Cell-Based Organoid Models of Neurodevelopmental Disorders.
Wang L, Owusu-Hammond C, Sievert D, Gleeson JG. Wang L, et al. Among authors: gleeson jg. Biol Psychiatry. 2023 Apr 1;93(7):622-631. doi: 10.1016/j.biopsych.2023.01.012. Epub 2023 Jan 24. Biol Psychiatry. 2023. PMID: 36759260 Free PMC article. Review.
Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.
Owen MJ, Wright MS, Batalov S, Kwon Y, Ding Y, Chau KK, Chowdhury S, Sweeney NM, Kiernan E, Richardson A, Batton E, Baer RJ, Bandoli G, Gleeson JG, Bainbridge M, Chambers CD, Kingsmore SF. Owen MJ, et al. Among authors: gleeson jg. JAMA Netw Open. 2023 Feb 1;6(2):e2254069. doi: 10.1001/jamanetworkopen.2022.54069. JAMA Netw Open. 2023. PMID: 36757698 Free PMC article.
Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases.
Garrison MA, Jang Y, Bae T, Cherskov A, Emery SB, Fasching L, Jones A, Moldovan JB, Molitor C, Pochareddy S, Peters MA, Shin JH, Wang Y, Yang X, Akbarian S, Chess A, Gage FH, Gleeson JG, Kidd JM, McConnell M, Mills RE, Moran JV, Park PJ, Sestan N, Urban AE, Vaccarino FM, Walsh CA, Weinberger DR, Wheelan SJ, Abyzov A; BSMN Consortium. Garrison MA, et al. Among authors: gleeson jg. Sci Data. 2023 Nov 20;10(1):813. doi: 10.1038/s41597-023-02645-7. Sci Data. 2023. PMID: 37985666 Free PMC article.
320 results