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Page 1
Retinoic acid receptor beta variant-related colonic hypoganglionosis.
Foster KJ, Zhang SQ, Braddock SR, Torti E, Chikarmane R, Sotelo-Avila C, Greenspon J. Foster KJ, et al. Among authors: chikarmane r. Am J Med Genet A. 2019 May;179(5):817-821. doi: 10.1002/ajmg.a.61078. Epub 2019 Feb 20. Am J Med Genet A. 2019. PMID: 30790422
Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.
Stern D, Cho MT, Chikarmane R, Willaert R, Retterer K, Kendall F, Deardorff M, Hopkins S, Bedoukian E, Slavotinek A, Schrier Vergano S, Spangler B, McDonald M, McConkie-Rosell A, Burton BK, Kim KH, Oundjian N, Kronn D, Chandy N, Baskin B, Guillen Sacoto MJ, Wentzensen IM, McLaughlin HM, McKnight D, Chung WK. Stern D, et al. Among authors: chikarmane r. Clin Genet. 2017 Aug;92(2):221-223. doi: 10.1111/cge.12956. Epub 2017 Jan 23. Clin Genet. 2017. PMID: 28111752 Free PMC article.
De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.
Powis Z, Petrik I, Cohen JS, Escolar D, Burton J, van Ravenswaaij-Arts CMA, Sival DA, Stegmann APA, Kleefstra T, Pfundt R, Chikarmane R, Begtrup A, Huether R, Tang S, Shinde DN. Powis Z, et al. Among authors: chikarmane r. Clin Genet. 2018 May;93(5):1030-1038. doi: 10.1111/cge.13198. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 29251763
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F. Nitschke Y, et al. Among authors: chikarmane r. Am J Hum Genet. 2012 Jan 13;90(1):25-39. doi: 10.1016/j.ajhg.2011.11.020. Epub 2011 Dec 29. Am J Hum Genet. 2012. PMID: 22209248 Free PMC article.
Convergent alterations in the tumor microenvironment of MYC-driven human and murine prostate cancer.
Graham MK, Wang R, Chikarmane R, Abel B, Vaghasia A, Gupta A, Zheng Q, Hicks J, Sysa-Shah P, Pan X, Castagna N, Liu J, Meyers J, Skaist A, Zhang Y, Rubenstein M, Schuebel K, Simons BW, Bieberich CJ, Nelson WG, Lupold SE, DeWeese TL, De Marzo AM, Yegnasubramanian S. Graham MK, et al. Among authors: chikarmane r. Nat Commun. 2024 Aug 28;15(1):7414. doi: 10.1038/s41467-024-51450-2. Nat Commun. 2024. PMID: 39198404 Free PMC article.
Convergent alterations in the tumor microenvironment of MYC-driven human and murine prostate cancer.
Graham MK, Wang R, Chikarmane R, Wodu B, Vaghasia A, Gupta A, Zheng Q, Hicks J, Sysa-Shah P, Pan X, Castagna N, Liu J, Meyers J, Skaist A, Zhang Y, Schuebel K, Simons BW, Bieberich CJ, Nelson WG, Lupold SE, DeWeese TL, De Marzo AM, Yegnasubramanian S. Graham MK, et al. Among authors: chikarmane r. bioRxiv [Preprint]. 2023 Oct 17:2023.09.07.553268. doi: 10.1101/2023.09.07.553268. bioRxiv. 2023. Update in: Nat Commun. 2024 Aug 28;15(1):7414. doi: 10.1038/s41467-024-51450-2 PMID: 37905029 Free PMC article. Updated. Preprint.
Single-cell atlas of epithelial and stromal cell heterogeneity by lobe and strain in the mouse prostate.
Graham MK, Chikarmane R, Wang R, Vaghasia A, Gupta A, Zheng Q, Wodu B, Pan X, Castagna N, Liu J, Meyers J, Skaist A, Wheelan S, Simons BW, Bieberich C, Nelson WG, DeWeese TL, De Marzo AM, Yegnasubramanian S. Graham MK, et al. Among authors: chikarmane r. Prostate. 2023 Feb;83(3):286-303. doi: 10.1002/pros.24460. Epub 2022 Nov 13. Prostate. 2023. PMID: 36373171
Resistance to androgen receptor signaling inhibition does not necessitate development of neuroendocrine prostate cancer.
Brennen WN, Zhu Y, Coleman IM, Dalrymple SL, Antony L, Patel RA, Hanratty B, Chikarmane R, Meeker AK, Zheng SL, Hooper JE, Luo J, De Marzo AM, Corey E, Xu J, Yegnasubramanian S, Haffner MC, Nelson PS, Nelson WG, Isaacs WB, Isaacs JT. Brennen WN, et al. Among authors: chikarmane r. JCI Insight. 2021 Apr 22;6(8):e146827. doi: 10.1172/jci.insight.146827. JCI Insight. 2021. PMID: 33724955 Free PMC article.