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Page 1
The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.
Sun Q, Burgren NM, Cheraghlou S, Paller AS, Larralde M, Bercovitch L, Levinsohn J, Ren I, Hu RH, Zhou J, Zaki T, Fan R, Tian C, Saraceni C, Nelson-Williams CJ, Loring E, Craiglow BG, Milstone LM, Lifton RP, Boyden LM, Choate KA. Sun Q, et al. Among authors: loring e. JAMA Dermatol. 2022 Jan 1;158(1):16-25. doi: 10.1001/jamadermatol.2021.4242. JAMA Dermatol. 2022. PMID: 34851365 Free PMC article.
Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.
Boyden LM, Zhou J, Hu R, Zaki T, Loring E, Scott J, Traupe H, Paller AS, Lifton RP, Choate KA. Boyden LM, et al. Among authors: loring e. Am J Hum Genet. 2020 Jul 2;107(1):158-163. doi: 10.1016/j.ajhg.2020.05.013. Epub 2020 Jun 8. Am J Hum Genet. 2020. PMID: 32516568 Free PMC article.
Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi.
Levinsohn JL, Teng J, Craiglow BG, Loring EC, Burrow TA, Mane SS, Overton JD, Lifton RP, McNiff JM, Lucky AW, Choate KA. Levinsohn JL, et al. J Invest Dermatol. 2014 Apr;134(4):1149-1152. doi: 10.1038/jid.2013.430. Epub 2013 Oct 15. J Invest Dermatol. 2014. PMID: 24129065 Free PMC article. No abstract available.
Hypokalemia Associated With a Claudin 10 Mutation: A Case Report.
Meyers N, Nelson-Williams C, Malaga-Dieguez L, Kaufmann H, Loring E, Knight J, Lifton RP, Trachtman H. Meyers N, et al. Among authors: loring e. Am J Kidney Dis. 2019 Mar;73(3):425-428. doi: 10.1053/j.ajkd.2018.08.015. Epub 2018 Oct 25. Am J Kidney Dis. 2019. PMID: 30482581 Free PMC article.
De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.
Timberlake AT, Furey CG, Choi J, Nelson-Williams C; Yale Center for Genome Analysis; Loring E, Galm A, Kahle KT, Steinbacher DM, Larysz D, Persing JA, Lifton RP. Timberlake AT, et al. Among authors: loring e. Proc Natl Acad Sci U S A. 2017 Aug 29;114(35):E7341-E7347. doi: 10.1073/pnas.1709255114. Epub 2017 Aug 14. Proc Natl Acad Sci U S A. 2017. PMID: 28808027 Free PMC article.
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.
Lim YH, Ovejero D, Sugarman JS, Deklotz CM, Maruri A, Eichenfield LF, Kelley PK, Jüppner H, Gottschalk M, Tifft CJ, Gafni RI, Boyce AM, Cowen EW, Bhattacharyya N, Guthrie LC, Gahl WA, Golas G, Loring EC, Overton JD, Mane SM, Lifton RP, Levy ML, Collins MT, Choate KA. Lim YH, et al. Hum Mol Genet. 2014 Jan 15;23(2):397-407. doi: 10.1093/hmg/ddt429. Epub 2013 Sep 4. Hum Mol Genet. 2014. PMID: 24006476 Free PMC article.
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.
Timberlake AT, Choi J, Zaidi S, Lu Q, Nelson-Williams C, Brooks ED, Bilguvar K, Tikhonova I, Mane S, Yang JF, Sawh-Martinez R, Persing S, Zellner EG, Loring E, Chuang C, Galm A, Hashim PW, Steinbacher DM, DiLuna ML, Duncan CC, Pelphrey KA, Zhao H, Persing JA, Lifton RP. Timberlake AT, et al. Among authors: loring e. Elife. 2016 Sep 8;5:e20125. doi: 10.7554/eLife.20125. Elife. 2016. PMID: 27606499 Free PMC article.
45 results