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A Primer Genetic Toolkit for Exploring Mitochondrial Biology and Disease Using Zebrafish.
Sabharwal A, Campbell JM, Schwab TL, WareJoncas Z, Wishman MD, Ata H, Liu W, Ichino N, Hunter DE, Bergren JD, Urban MD, Urban RM, Holmberg SR, Kar B, Cook A, Ding Y, Xu X, Clark KJ, Ekker SC. Sabharwal A, et al. Among authors: schwab tl. Genes (Basel). 2022 Jul 23;13(8):1317. doi: 10.3390/genes13081317. Genes (Basel). 2022. PMID: 35893052 Free PMC article.
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
Cousin MA, Conboy E, Wang JS, Lenz D, Schwab TL, Williams M, Abraham RS, Barnett S, El-Youssef M, Graham RP, Gutierrez Sanchez LH, Hasadsri L, Hoffmann GF, Hull NC, Kopajtich R, Kovacs-Nagy R, Li JQ, Marx-Berger D, McLin V, McNiven MA, Mounajjed T, Prokisch H, Rymen D, Schulze RJ, Staufner C, Yang Y, Clark KJ, Lanpher BC, Klee EW. Cousin MA, et al. Among authors: schwab tl. Am J Hum Genet. 2019 Jul 3;105(1):108-121. doi: 10.1016/j.ajhg.2019.05.011. Epub 2019 Jun 13. Am J Hum Genet. 2019. PMID: 31204009 Free PMC article.
A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype.
Schultz-Rogers L, Lach FP, Rickman KA, Ferrer A, Mangaonkar AA, Schwab TL, Schmitz CT, Clark KJ, Dsouza NR, Zimmermann MT, Litzow M, Jacobi N, Klee EW, Smogorzewska A, Patnaik MM. Schultz-Rogers L, et al. Among authors: schwab tl. Haematologica. 2021 Apr 1;106(4):1188-1192. doi: 10.3324/haematol.2020.259275. Haematologica. 2021. PMID: 32646888 Free PMC article. No abstract available.
Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder.
Schultz-Rogers L, Masuho I, Pinto E Vairo F, Schmitz CT, Schwab TL, Clark KJ, Gunderson L, Pichurin PN, Wierenga K, Martemyanov KA, Klee EW. Schultz-Rogers L, et al. Among authors: schwab tl. Mol Genet Genomic Med. 2020 Nov;8(11):e1477. doi: 10.1002/mgg3.1477. Epub 2020 Sep 12. Mol Genet Genomic Med. 2020. PMID: 32918542 Free PMC article.
Designed architectural proteins that tune DNA looping in bacteria.
Tse DH, Becker NA, Young RT, Olson WK, Peters JP, Schwab TL, Clark KJ, Maher LJ. Tse DH, et al. Among authors: schwab tl. Nucleic Acids Res. 2021 Oct 11;49(18):10382-10396. doi: 10.1093/nar/gkab759. Nucleic Acids Res. 2021. PMID: 34478548 Free PMC article.
16 results