Note: List of publications from researchers at Boston Children’s Hospital who used the core facility.
Shubina-Oleinik O, Nist-Lund C, French C, Rockowitz S, Shearer AE, Holt JR. Dual-vector gene therapy restores cochlear amplification and auditory sensitivity in a mouse model of DFNB16 hearing loss. Sci Adv. 2021 Dec 17;7(51):eabi7629. doi: 10.1126/sciadv.abi7629. Epub 2021 Dec 15. PMID: 34910522; PMCID: PMC8673757.
Marcovich I, Baer NK, Shubina-Oleinik O, Eclov R, Beard CW, Holt JR. Optimized AAV Vectors for TMC1 Gene Therapy in a Humanized Mouse Model of DFNB7/11. Biomolecules. 2022 Jun 29;12(7):914. doi: 10.3390/biom12070914. PMID: 35883470; PMCID: PMC9313133.
Peineau T, Marcovich I, Rodriguez CVM, O'Malley S, Cui R, Ballesteros A, Holt JR. Mammalian TMC1 or 2 are necessary for scramblase activity in auditory hair cells. Hear Res. 2025 May;460:109229. doi: 10.1016/j.heares.2025.109229. Epub 2025 Mar 6. PMID: 40073458; PMCID: PMC12038766.
Lee HHC, Pearl PL, Rotenberg A. Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity. J Child Neurol. 2021 Nov;36(13-14):1200-1209. doi: 10.1177/0883073821993000. Epub 2021 Feb 24. PMID: 33624531; PMCID: PMC8382780.
Smits PJ, Sudduth CL, Konczyk DJ, Cheng YS, Vivero MP, Kozakewich HPW, Warman ML, Greene AK. Endothelial cell expression of mutant Map2k1 causes vascular malformations in mice. Angiogenesis. 2023 Feb;26(1):97-105. doi: 10.1007/s10456-022-09853-6. Epub 2022 Aug 16. PMID: 35972708; PMCID: PMC9918623.
Hoshina N, Johnson-Venkatesh EM, Hoshina M, Umemori H. Female-specific synaptic dysfunction and cognitive impairment in a mouse model of PCDH19 disorder. Science. 2021 Apr 16;372(6539):eaaz3893. doi: 10.1126/science.aaz3893. PMID: 33859005; PMCID: PMC9873198.
Cheng YC, Snavely A, Barrett LB, Zhang X, Herman C, Frost DJ, Riva P, Tochitsky I, Kawaguchi R, Singh B, Ivanis J, Huebner EA, Arvanites A, Oza V, Davidow L, Maeda R, Sakuma M, Grantham A, Wang Q, Chang AN, Pfaff K, Costigan M, Coppola G, Rubin LL, Schwer B, Alt FW, Woolf CJ. Topoisomerase I inhibition and peripheral nerve injury induce DNA breaks and ATF3-associated axon regeneration in sensory neurons. Cell Rep. 2021 Sep 7;36(10):109666. doi: 10.1016/j.celrep.2021.109666. PMID: 34496254; PMCID: PMC8462619.
Sever N, Miličić G, Bodnar NO, Wu X, Rapoport TA. Mechanism of Lamellar Body Formation by Lung Surfactant Protein B. Mol Cell. 2021 Jan 7;81(1):49-66.e8. doi: 10.1016/j.molcel.2020.10.042. Epub 2020 Nov 25. PMID: 33242393; PMCID: PMC7797001.
Shipley FB, Dani N, Xu H, Deister C, Cui J, Head JP, Sadegh C, Fame RM, Shannon ML, Flores VI, Kishkovich T, Jang E, Klein EM, Goldey GJ, He K, Zhang Y, Holtzman MJ, Kirchhausen T, Wyart C, Moore CI, Andermann ML, Lehtinen MK. Tracking Calcium Dynamics and Immune Surveillance at the Choroid Plexus Blood-Cerebrospinal Fluid Interface. Neuron. 2020 Nov 25;108(4):623-639.e10. doi: 10.1016/j.neuron.2020.08.024. Epub 2020 Sep 21. PMID: 32961128; PMCID: PMC7847245.
Bowling S, Sritharan D, Osorio FG, Nguyen M, Cheung P, Rodriguez-Fraticelli A, Patel S, Yuan WC, Fujiwara Y, Li BE, Orkin SH, Hormoz S, Camargo FD. An Engineered CRISPR-Cas9 Mouse Line for Simultaneous Readout of Lineage Histories and Gene Expression Profiles in Single Cells. Cell. 2020 Jun 11;181(6):1410-1422.e27. doi: 10.1016/j.cell.2020.04.048. Epub 2020 May 14. Erratum in: Cell. 2020 Jun 25;181(7):1693-1694. doi: 10.1016/j.cell.2020.06.018. PMID: 32413320; PMCID: PMC7529102.
Li L, Bowling S, McGeary SE, Yu Q, Lemke B, Alcedo K, Jia Y, Liu X, Ferreira M, Klein AM, Wang SW, Camargo FD. A mouse model with high clonal barcode diversity for joint lineage, transcriptomic, and epigenomic profiling in single cells. Cell. 2023 Nov 9;186(23):5183-5199.e22. doi: 10.1016/j.cell.2023.09.019. Epub 2023 Oct 17. PMID: 37852258.
Klouda T, Kim Y, Baek SH, Bhaumik M, Li Y, Liu Y, Wu JC, Raby BA, Perez VJ, Yuan K. Specialized pericyte subtypes in the pulmonary capillaries. EMBO J. 2025 Feb;44(4):1074-1106. doi: 10.1038/s44318-024-00349-1. Epub 2025 Jan 13. PMID: 39806101; PMCID: PMC11833098.
Bright CL, Bomze HM, Bhaumik M, Kay JN, Cartoni R, Gospe SM 3rd. Generation of an Armcx1 Conditional Knockout Mouse. Genesis. 2024 Aug;62(4):e23615. doi: 10.1002/dvg.23615. PMID: 39139090; PMCID: PMC11364276.
Sun C, Zhou C, Daneshvar K, Ben Saad A, Kratkiewicz AJ, Toles BJ, Arghiani N, Hess A, Chen JY, Pondick JV, York SR, Li W, Moran SP, Gentile SD, Rahman RU, Li Z, Zhou P, Sparks RP, Habboub T, Kim BM, Choi MY, Affo S, Schwabe RF, Popov YV, Mullen AC. Conserved long noncoding RNA TILAM promotes liver fibrosis through interaction with PML in HSCs. Hepatology. 2025 Mar 1;81(3):853-869. doi: 10.1097/HEP.0000000000000822. Epub 2024 Apr 2. PMID: 38563629; PMCID: PMC11825499.