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Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, Fu C, Crowley MR, Crossman DK, Armstrong L, Babovic-Vuksanovic D, Bergner A, Blakeley JO, Blumenthal AL, Daniels MS, Feit H, Gardner K, Hurst S, Kobelka C, Lee C, Nagy R, Rauen KA, Slopis JM, Suwannarat P, Westman JA, Zanko A, Korf BR, Messiaen LM. Piotrowski A, et al. Among authors: crossman dk. Nat Genet. 2014 Feb;46(2):182-7. doi: 10.1038/ng.2855. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362817 Free PMC article.
A state-based approach to genomics for rare disease and population screening.
East KM, Kelley WV, Cannon A, Cochran ME, Moss IP, May T, Nakano-Okuno M, Sodeke SO, Edberg JC, Cimino JJ, Fouad M, Curry WA, Hurst ACE, Bowling KM, Thompson ML, Bebin EM, Johnson RD; AGHI Consortium; Cooper GM, Might M, Barsh GS, Korf BR. East KM, et al. Genet Med. 2021 Apr;23(4):777-781. doi: 10.1038/s41436-020-01034-4. Epub 2020 Nov 27. Genet Med. 2021. PMID: 33244164 Free PMC article.
Hypomagnesemia due to two novel TRPM6 mutations.
Coulter M, Colvin C, Korf B, Messiaen L, Tuanama B, Crowley M, Crossman DK, McCormick K. Coulter M, et al. Among authors: crossman dk. J Pediatr Endocrinol Metab. 2015 Nov 1;28(11-12):1373-8. doi: 10.1515/jpem-2014-0394. J Pediatr Endocrinol Metab. 2015. PMID: 26226117
snRNA-seq of human cutaneous neurofibromas before and after selumetinib treatment implicates role of altered Schwann cell states, inter-cellular signaling, and extracellular matrix in treatment response.
Church C, Fay CX, Kriukov E, Liu H, Cannon A, Baldwin LA, Crossman DK, Korf B, Wallace MR, Gross AM, Widemann BC, Kesterson RA, Baranov P, Wallis D. Church C, et al. Among authors: crossman dk. Acta Neuropathol Commun. 2024 Jun 21;12(1):102. doi: 10.1186/s40478-024-01821-z. Acta Neuropathol Commun. 2024. PMID: 38907342 Free PMC article.
Allelic series of Huntington's disease knock-in mice reveals expression discorrelates.
Kumar A, Zhang J, Tallaksen-Greene S, Crowley MR, Crossman DK, Morton AJ, Van Groen T, Kadish I, Albin RL, Lesort M, Detloff PJ. Kumar A, et al. Among authors: crossman dk. Hum Mol Genet. 2016 Apr 15;25(8):1619-36. doi: 10.1093/hmg/ddw040. Epub 2016 Feb 14. Hum Mol Genet. 2016. PMID: 26908599 Free PMC article.
159 results