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Page 1
The contribution of de novo coding mutations to meningomyelocele.
Ha YJ, Nisal A, Tang I, Lee C, Jhamb I, Wallace C, Howarth R, Schroeder S, Vong KI, Meave N, Jiwani F, Barrows C, Lee S, Jiang N, Patel A, Bagga K, Banka N, Friedman L, Blanco FA, Yu S, Rhee S, Jeong HS, Plutzer I, Major MB, Benoit B, Poüs C, Heffner C, Kibar Z, Bot GM, Northrup H, Au KS, Strain M, Ashley-Koch AE, Finnell RH, Le JT, Meltzer HS, Araujo C, Machado HR, Stevenson RE, Yurrita A, Mumtaz S, Ahmed A, Khara MH, Mutchinick OM, Medina-Bereciartu JR, Hildebrandt F, Melikishvili G, Marwan AI, Capra V, Noureldeen MM, Salem AMS, Issa MY, Zaki MS, Xu L, Lee JE, Shin D, Alkelai A, Shuldiner AR, Kingsmore SF, Murray SA, Gee HY, Miller WT, Tolias KF, Wallingford JB; Spina Bifida Sequencing Consortium; Kim S, Gleeson JG. Ha YJ, et al. Among authors: heffner c. Nature. 2025 May;641(8062):419-426. doi: 10.1038/s41586-025-08676-x. Epub 2025 Mar 26. Nature. 2025. PMID: 40140573
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: heffner 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.
Mouse gestation length is genetically determined.
Murray SA, Morgan JL, Kane C, Sharma Y, Heffner CS, Lake J, Donahue LR. Murray SA, et al. Among authors: heffner cs. PLoS One. 2010 Aug 25;5(8):e12418. doi: 10.1371/journal.pone.0012418. PLoS One. 2010. PMID: 20811634 Free PMC article.
Kidney adysplasia and variable hydronephrosis, a new mutation affecting the odd-skipped related 1 gene in the mouse, causes variable defects in kidney development and hydronephrosis.
Davisson MT, Cook SA, Akeson EC, Liu D, Heffner C, Gudis P, Fairfield H, Murray SA. Davisson MT, et al. Among authors: heffner c. Am J Physiol Renal Physiol. 2015 Jun 15;308(12):F1335-42. doi: 10.1152/ajprenal.00410.2014. Epub 2015 Apr 1. Am J Physiol Renal Physiol. 2015. PMID: 25834070 Free PMC article.
Maternal synchronization of gestational length and lung maturation.
Besnard V, Wert SE, Ikegami M, Xu Y, Heffner C, Murray SA, Donahue LR, Whitsett JA. Besnard V, et al. Among authors: heffner c. PLoS One. 2011;6(11):e26682. doi: 10.1371/journal.pone.0026682. Epub 2011 Nov 9. PLoS One. 2011. PMID: 22096492 Free PMC article.
Transcriptional programs controlling perinatal lung maturation.
Xu Y, Wang Y, Besnard V, Ikegami M, Wert SE, Heffner C, Murray SA, Donahue LR, Whitsett JA. Xu Y, et al. Among authors: heffner c. PLoS One. 2012;7(8):e37046. doi: 10.1371/journal.pone.0037046. Epub 2012 Aug 20. PLoS One. 2012. PMID: 22916088 Free PMC article.
Amphiphilic shuttle peptide delivers base editor ribonucleoprotein to correct the CFTR R553X mutation in well-differentiated airway epithelial cells.
Kulhankova K, Cheng AX, Traore S, Auger M, Pelletier M, Hervault M, Wells KD, Green JA, Byrne A, Nelson B, Sponchiado M, Boosani C, Heffner CS, Snow KJ, Murray SA, Villacreses RA, Rector MV, Gansemer ND, Stoltz DA, Allamargot C, Couture F, Hemez C, Hallée S, Barbeau X, Harvey M, Lauvaux C, Gaillet B, Newby GA, Liu DR, McCray PB Jr, Guay D. Kulhankova K, et al. Among authors: heffner cs. Nucleic Acids Res. 2024 Oct 28;52(19):11911-11925. doi: 10.1093/nar/gkae819. Nucleic Acids Res. 2024. PMID: 39315713 Free PMC article.
54 results