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Year Number of Results
2006 1
2008 2
2009 1
2010 1
2011 1
2012 1
2013 4
2014 4
2015 6
2016 8
2017 5
2018 8
2019 14
2020 5
2021 6
2022 6
2023 3
2024 2
2025 2

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76 results

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Page 1
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG; DDD Study; Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD; Care4Rare Canada Consortium; Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H; CAUSES Study; Martin MG, Martinez-Agosto JA; Undiagnosed Diseases Network; Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Prescott T,… See abstract for full author list ➔ Bryant L, et al. Sci Adv. 2020 Dec 2;6(49):eabc9207. doi: 10.1126/sciadv.abc9207. Print 2020 Dec. Sci Adv. 2020. PMID: 33268356 Free PMC article.
Gastrointestinal Polyposis in Pediatric Patients.
MacFarland SP, Zelley K, Katona BW, Wilkins BJ, Brodeur GM, Mamula P. MacFarland SP, et al. J Pediatr Gastroenterol Nutr. 2019 Sep;69(3):273-280. doi: 10.1097/MPG.0000000000002421. J Pediatr Gastroenterol Nutr. 2019. PMID: 31211762 Free PMC article. Review.
Non-IgE-mediated food allergy syndromes.
Ruffner MA, Spergel JM. Ruffner MA, et al. Ann Allergy Asthma Immunol. 2016 Nov;117(5):452-454. doi: 10.1016/j.anai.2016.04.014. Epub 2016 Oct 24. Ann Allergy Asthma Immunol. 2016. PMID: 27788868 Free PMC article. Review.
Serial Profiling of Circulating Tumor DNA Identifies Dynamic Evolution of Clinically Actionable Genomic Alterations in High-Risk Neuroblastoma.
Bosse KR, Giudice AM, Lane MV, McIntyre B, Schürch PM, Pascual-Pasto G, Buongervino SN, Suresh S, Fitzsimmons A, Hyman A, Gemino-Borromeo M, Saggio J, Berko ER, Daniels AA, Stundon J, Friedrichsen M, Liu X, Margolis ML, Li MM, Tierno MB, Oxnard GR, Maris JM, Mossé YP. Bosse KR, et al. Cancer Discov. 2022 Dec 2;12(12):2800-2819. doi: 10.1158/2159-8290.CD-22-0287. Cancer Discov. 2022. PMID: 36108156 Free PMC article.
76 results