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A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.
Strong A, March ME, Cardinale CJ, Kim SE, Merves J, Whitworth H, Raffini L, Larosa C, Copelovitch L, Hou C, Slater D, Vaccaro C, Watson D, Zackai EH, Billheimer J, Hakonarson H. Strong A, et al. Among authors: cardinale cj. Am J Med Genet A. 2022 Feb;188(2):463-472. doi: 10.1002/ajmg.a.62537. Epub 2021 Oct 15. Am J Med Genet A. 2022. PMID: 34655156 Free PMC article.
Impact of exome sequencing in inflammatory bowel disease.
Cardinale CJ, Kelsen JR, Baldassano RN, Hakonarson H. Cardinale CJ, et al. World J Gastroenterol. 2013 Oct 28;19(40):6721-9. doi: 10.3748/wjg.v19.i40.6721. World J Gastroenterol. 2013. PMID: 24187447 Free PMC article. Review.
A novel BHLHE41 variant is associated with short sleep and resistance to sleep deprivation in humans.
Pellegrino R, Kavakli IH, Goel N, Cardinale CJ, Dinges DF, Kuna ST, Maislin G, Van Dongen HP, Tufik S, Hogenesch JB, Hakonarson H, Pack AI. Pellegrino R, et al. Among authors: cardinale cj. Sleep. 2014 Aug 1;37(8):1327-36. doi: 10.5665/sleep.3924. Sleep. 2014. PMID: 25083013 Free PMC article.
Thus, clock mechanisms are likely involved in setting sleep length and the magnitude of sleep homeostasis. CITATION: Pellegrino R, Kavakli IH, Goel N, Cardinale CJ, Dinges DF, Kuna ST, Maislin G, Van Dongen HP, Tufik S, Hogenesch JB, Hakonarson H, Pack AI. ...
Thus, clock mechanisms are likely involved in setting sleep length and the magnitude of sleep homeostasis. CITATION: Pellegrino R, Kavakli I …
Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
Li YR, Li J, Zhao SD, Bradfield JP, Mentch FD, Maggadottir SM, Hou C, Abrams DJ, Chang D, Gao F, Guo Y, Wei Z, Connolly JJ, Cardinale CJ, Bakay M, Glessner JT, Li D, Kao C, Thomas KA, Qiu H, Chiavacci RM, Kim CE, Wang F, Snyder J, Richie MD, Flatø B, Førre Ø, Denson LA, Thompson SD, Becker ML, Guthery SL, Latiano A, Perez E, Resnick E, Russell RK, Wilson DC, Silverberg MS, Annese V, Lie BA, Punaro M, Dubinsky MC, Monos DS, Strisciuglio C, Staiano A, Miele E, Kugathasan S, Ellis JA, Munro JE, Sullivan KE, Wise CA, Chapel H, Cunningham-Rundles C, Grant SF, Orange JS, Sleiman PM, Behrens EM, Griffiths AM, Satsangi J, Finkel TH, Keinan A, Prak ET, Polychronakos C, Baldassano RN, Li H, Keating BJ, Hakonarson H. Li YR, et al. Among authors: cardinale cj. Nat Med. 2015 Sep;21(9):1018-27. doi: 10.1038/nm.3933. Epub 2015 Aug 24. Nat Med. 2015. PMID: 26301688 Free PMC article.
Multiple Epistasis Interactions Within MHC Are Associated With Ulcerative Colitis.
Zhang J, Wei Z, Cardinale CJ, Gusareva ES, Van Steen K, Sleiman P; International IBD Genetics Consortium; Hakonarson H. Zhang J, et al. Among authors: cardinale cj. Front Genet. 2019 Apr 3;10:257. doi: 10.3389/fgene.2019.00257. eCollection 2019. Front Genet. 2019. PMID: 31001315 Free PMC article.
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