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Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.
Kohlhase J, Schubert L, Liebers M, Rauch A, Becker K, Mohammed SN, Newbury-Ecob R, Reardon W. Kohlhase J, et al. Among authors: liebers m. J Med Genet. 2003 Jul;40(7):473-8. doi: 10.1136/jmg.40.7.473. J Med Genet. 2003. PMID: 12843316 Free PMC article.
Okihiro syndrome is caused by SALL4 mutations.
Kohlhase J, Heinrich M, Schubert L, Liebers M, Kispert A, Laccone F, Turnpenny P, Winter RM, Reardon W. Kohlhase J, et al. Among authors: liebers m. Hum Mol Genet. 2002 Nov 1;11(23):2979-87. doi: 10.1093/hmg/11.23.2979. Hum Mol Genet. 2002. PMID: 12393809
High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.
Kohlhase J, Liebers M, Backe J, Baumann-Müller A, Bembea M, Destrée A, Gattas M, Grüssner S, Müller T, Mortier G, Skrypnyk C, Yano S, Wirbelauer J, Michaelis RC. Kohlhase J, et al. Among authors: liebers m. J Med Genet. 2003 Nov;40(11):e127. doi: 10.1136/jmg.40.11.e127. J Med Genet. 2003. PMID: 14627694 Free PMC article. No abstract available.
Defining genome-wide CRISPR-Cas genome-editing nuclease activity with GUIDE-seq.
Malinin NL, Lee G, Lazzarotto CR, Li Y, Zheng Z, Nguyen NT, Liebers M, Topkar VV, Iafrate AJ, Le LP, Aryee MJ, Joung JK, Tsai SQ. Malinin NL, et al. Among authors: liebers m. Nat Protoc. 2021 Dec;16(12):5592-5615. doi: 10.1038/s41596-021-00626-x. Epub 2021 Nov 12. Nat Protoc. 2021. PMID: 34773119 Free PMC article. Review.
Evaluation of endocrine resistance using ESR1 genotyping of circulating tumor cells and plasma DNA.
Sundaresan TK, Dubash TD, Zheng Z, Bardia A, Wittner BS, Aceto N, Silva EJ, Fox DB, Liebers M, Kapur R, Iafrate J, Toner M, Maheswaran S, Haber DA. Sundaresan TK, et al. Among authors: liebers m. Breast Cancer Res Treat. 2021 Jul;188(1):43-52. doi: 10.1007/s10549-021-06270-z. Epub 2021 Jun 8. Breast Cancer Res Treat. 2021. PMID: 34101078 Free PMC article.
26 results