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Successful therapeutic intervention in new mouse models of frizzled 2-associated congenital malformations.
Development. 2023 Feb 1;150(3):dev201038. doi: 10.1242/dev.201038. Epub 2023 Feb 15.
Development. 2023.
PMID: 36789910
Free PMC article.
Using human sequencing to guide craniofacial research.
Liegel RP, Finnerty E, Blizzard L, DiStasio A, Hufnagel RB, Saal HM, Sund KL, Prows CA, Stottmann RW.
Liegel RP, et al.
Genesis. 2019 Jan;57(1):e23259. doi: 10.1002/dvg.23259. Epub 2018 Dec 21.
Genesis. 2019.
PMID: 30375152
Free PMC article.
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Differential requirements of tubulin genes in mammalian forebrain development.
Bittermann E, Abdelhamed Z, Liegel RP, Menke C, Timms A, Beier DR, Stottmann RW.
Bittermann E, et al. Among authors: liegel rp.
PLoS Genet. 2019 Aug 6;15(8):e1008243. doi: 10.1371/journal.pgen.1008243. eCollection 2019 Aug.
PLoS Genet. 2019.
PMID: 31386652
Free PMC article.
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Alkylglycerone phosphate synthase (AGPS) deficient mice: models for rhizomelic chondrodysplasia punctate type 3 (RCDP3) malformation syndrome.
Liegel RP, Ronchetti A, Sidjanin DJ.
Liegel RP, et al.
Mol Genet Metab Rep. 2014;1:299-311. doi: 10.1016/j.ymgmr.2014.06.003.
Mol Genet Metab Rep. 2014.
PMID: 25197626
Free PMC article.
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Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice.
Park AK, Liegel RP, Ronchetti A, Ebert AD, Geurts A, Sidjanin DJ.
Park AK, et al. Among authors: liegel rp.
BMC Genet. 2014 Dec 5;15:135. doi: 10.1186/s12863-014-0135-2.
BMC Genet. 2014.
PMID: 25476608
Free PMC article.
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Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
Liegel RP, Handley MT, Ronchetti A, Brown S, Langemeyer L, Linford A, Chang B, Morris-Rosendahl DJ, Carpanini S, Posmyk R, Harthill V, Sheridan E, Abdel-Salam GM, Terhal PA, Faravelli F, Accorsi P, Giordano L, Pinelli L, Hartmann B, Ebert AD, Barr FA, Aligianis IA, Sidjanin DJ.
Liegel RP, et al.
Am J Hum Genet. 2013 Dec 5;93(6):1001-14. doi: 10.1016/j.ajhg.2013.10.011. Epub 2013 Nov 14.
Am J Hum Genet. 2013.
PMID: 24239381
Free PMC article.
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