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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A; CAUSES Study; Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K; SPARK Consortium; Earl RK, Nowakowski T, Bernier RA, Eichler EE. Gillentine MA, et al. Among authors: simpson k. Genome Med. 2021 Apr 19;13(1):63. doi: 10.1186/s13073-021-00870-6. Genome Med. 2021. PMID: 33874999 Free PMC article.
Unexplained oral and extremity ulcerations in an infant.
Russomanno K, DiLorenzo A, Simpson K, Berger S, Habeshian K. Russomanno K, et al. Among authors: simpson k. JAAD Case Rep. 2021 Jan 19;9:97-99. doi: 10.1016/j.jdcr.2021.01.010. eCollection 2021 Mar. JAAD Case Rep. 2021. PMID: 33665289 Free PMC article. No abstract available.
Immune biomarker evaluation of sequential tyrosine kinase inhibitor and nivolumab monotherapies in renal cell carcinoma: the phase I TRIBE trial.
Shohdy KS, Pillai M, Abbas KS, Allison J, Waddell T, Darlington E, Mohammad S, Hood S, Atkinson S, Simpson K, Morgan D, Nathan P, Kilgour E, Dive C, Thistlethwaite F. Shohdy KS, et al. Among authors: simpson k. Immunooncol Technol. 2024 Mar 18;22:100712. doi: 10.1016/j.iotech.2024.100712. eCollection 2024 Jun. Immunooncol Technol. 2024. PMID: 38694705 Free PMC article.
Multimodal decoding of human liver regeneration.
Matchett KP, Wilson-Kanamori JR, Portman JR, Kapourani CA, Fercoq F, May S, Zajdel E, Beltran M, Sutherland EF, Mackey JBG, Brice M, Wilson GC, Wallace SJ, Kitto L, Younger NT, Dobie R, Mole DJ, Oniscu GC, Wigmore SJ, Ramachandran P, Vallejos CA, Carragher NO, Saeidinejad MM, Quaglia A, Jalan R, Simpson KJ, Kendall TJ, Rule JA, Lee WM, Hoare M, Weston CJ, Marioni JC, Teichmann SA, Bird TG, Carlin LM, Henderson NC. Matchett KP, et al. Among authors: simpson kj. Nature. 2024 May 1. doi: 10.1038/s41586-024-07376-2. Online ahead of print. Nature. 2024. PMID: 38693268
1,977 results