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104 results

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Page 1
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.
Beaman MM, Guidugli L, Hammer M, Barrows C, Gregor A, Lee S, Deak KL, McDonald MT, Jensen C, Zaki MS, Masri AT, Hobbs CA, Gleeson JG, Cohen JL. Beaman MM, et al. Among authors: barrows c. Am J Med Genet A. 2023 Nov;191(11):2757-2767. doi: 10.1002/ajmg.a.63363. Epub 2023 Aug 19. Am J Med Genet A. 2023. PMID: 37596828 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: barrows c. 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.
TMEM161B modulates radial glial scaffolding in neocortical development.
Wang L, Heffner C, Vong KI, Barrows C, Ha YJ, Lee S, Lara-Gonzalez P, Jhamb I, Van Der Meer D, Loughnan R, Parker N, Sievert D, Mittal S, Issa MY, Andreassen OA, Dale A, Dobyns WB, Zaki MS, Murray SA, Gleeson JG. Wang L, et al. Among authors: barrows c. Proc Natl Acad Sci U S A. 2023 Jan 24;120(4):e2209983120. doi: 10.1073/pnas.2209983120. Epub 2023 Jan 20. Proc Natl Acad Sci U S A. 2023. PMID: 36669109 Free PMC article.
Cell-type-resolved somatic mosaicism reveals clonal dynamics of the human forebrain.
Chung C, Yang X, Hevner RF, Kennedy K, Vong KI, Liu Y, Patel A, Nedunuri R, Barton ST, Barrows C, Stanley V, Mittal S, Breuss MW, Schlachetzki JCM, Gleeson JG. Chung C, et al. Among authors: barrows c. bioRxiv [Preprint]. 2023 Oct 26:2023.10.24.563814. doi: 10.1101/2023.10.24.563814. bioRxiv. 2023. Update in: Nature. 2024 May;629(8011):384-392. doi: 10.1038/s41586-024-07292-5 PMID: 37961480 Free PMC article. Updated. Preprint.
Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain.
Chung C, Yang X, Hevner RF, Kennedy K, Vong KI, Liu Y, Patel A, Nedunuri R, Barton ST, Noel G, Barrows C, Stanley V, Mittal S, Breuss MW, Schlachetzki JCM, Kingsmore SF, Gleeson JG. Chung C, et al. Among authors: barrows c. Nature. 2024 May;629(8011):384-392. doi: 10.1038/s41586-024-07292-5. Epub 2024 Apr 10. Nature. 2024. PMID: 38600385 Free PMC article.
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. Vong KI, et al. Among authors: barrows c. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. Science. 2024. PMID: 38696583
Genomic mosaicism reveals developmental organization of trunk neural crest-derived ganglia.
Vong KI, Alvarez YD, Noel G, Barton ST, Chung C, Howarth R, Meave N, Zhang Q, Jiwani F, Barrows C, Patel A, Wang JX, Chi N, Kingsmore SF, White MD, Yang X, Gleeson JG. Vong KI, et al. Among authors: barrows c. bioRxiv [Preprint]. 2024 Sep 26:2024.09.25.615004. doi: 10.1101/2024.09.25.615004. bioRxiv. 2024. PMID: 39386543 Free PMC article. Preprint.
Dignity in the Pediatric Population: A Systematic Review.
Silverstein A, Easton V, Barrows C, Sawyer K, Coughlin R, Mali N, Kessler A, Robinson M, Sirrine E, Spears M, Wrigley J, Baker JN, Kaye EC. Silverstein A, et al. Among authors: barrows c. J Pain Symptom Manage. 2024 Dec;68(6):e447-e461. doi: 10.1016/j.jpainsymman.2024.07.012. Epub 2024 Jul 18. J Pain Symptom Manage. 2024. PMID: 39032678
104 results