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Page 1
Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles.
Brodie SA, Khincha PP, Giri N, Bouk AJ, Steinberg M, Dai J, Jessop L, Donovan FX, Chandrasekharappa SC, de Andrade KC, Maric I, Ellis SR, Mirabello L, Alter BP, Savage SA. Brodie SA, et al. Among authors: jessop l. Cold Spring Harb Mol Case Stud. 2021 Aug 2;7(4):a006015. doi: 10.1101/mcs.a006015. Print 2021 Aug. Cold Spring Harb Mol Case Stud. 2021. PMID: 34162668 Free PMC article.
Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.
Mirabello L, Macari ER, Jessop L, Ellis SR, Myers T, Giri N, Taylor AM, McGrath KE, Humphries JM, Ballew BJ, Yeager M, Boland JF, He J, Hicks BD, Burdett L, Alter BP, Zon L, Savage SA. Mirabello L, et al. Among authors: jessop l. Blood. 2014 Jul 3;124(1):24-32. doi: 10.1182/blood-2013-11-540278. Epub 2014 May 14. Blood. 2014. PMID: 24829207 Free PMC article.
Characterization of large structural genetic mosaicism in human autosomes.
Machiela MJ, Zhou W, Sampson JN, Dean MC, Jacobs KB, Black A, Brinton LA, Chang IS, Chen C, Chen C, Chen K, Cook LS, Crous Bou M, De Vivo I, Doherty J, Friedenreich CM, Gaudet MM, Haiman CA, Hankinson SE, Hartge P, Henderson BE, Hong YC, Hosgood HD 3rd, Hsiung CA, Hu W, Hunter DJ, Jessop L, Kim HN, Kim YH, Kim YT, Klein R, Kraft P, Lan Q, Lin D, Liu J, Le Marchand L, Liang X, Lissowska J, Lu L, Magliocco AM, Matsuo K, Olson SH, Orlow I, Park JY, Pooler L, Prescott J, Rastogi R, Risch HA, Schumacher F, Seow A, Setiawan VW, Shen H, Sheng X, Shin MH, Shu XO, VanDen Berg D, Wang JC, Wentzensen N, Wong MP, Wu C, Wu T, Wu YL, Xia L, Yang HP, Yang PC, Zheng W, Zhou B, Abnet CC, Albanes D, Aldrich MC, Amos C, Amundadottir LT, Berndt SI, Blot WJ, Bock CH, Bracci PM, Burdett L, Buring JE, Butler MA, Carreón T, Chatterjee N, Chung CC, Cook MB, Cullen M, Davis FG, Ding T, Duell EJ, Epstein CG, Fan JH, Figueroa JD, Fraumeni JF Jr, Freedman ND, Fuchs CS, Gao YT, Gapstur SM, Patiño-Garcia A, Garcia-Closas M, Gaziano JM, Giles GG, Gillanders EM, Giovannucci EL, Goldin L, Goldstein AM, Greene MH, Hallmans G, Harris CC, Henriksson R, Holly EA, Hoover RN, Hu N, Hutchinson A, Jenab M, Johansen… See abstract for full author list ➔ Machiela MJ, et al. Among authors: jessop l. Am J Hum Genet. 2015 Mar 5;96(3):487-97. doi: 10.1016/j.ajhg.2015.01.011. Am J Hum Genet. 2015. PMID: 25748358 Free PMC article.
Altered regulation of DPF3, a member of the SWI/SNF complexes, underlies the 14q24 renal cancer susceptibility locus.
Colli LM, Jessop L, Myers TA, Camp SY, Machiela MJ, Choi J, Cunha R, Onabajo O, Mills GC, Schmid V, Brodie SA, Delattre O, Mole DR, Purdue MP, Yu K, Brown KM, Chanock SJ. Colli LM, et al. Among authors: jessop l. Am J Hum Genet. 2021 Sep 2;108(9):1590-1610. doi: 10.1016/j.ajhg.2021.07.009. Epub 2021 Aug 13. Am J Hum Genet. 2021. PMID: 34390653 Free PMC article.
Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity.
Long E, Yin J, Funderburk KM, Xu M, Feng J, Kane A, Zhang T, Myers T, Golden A, Thakur R, Kong H, Jessop L, Kim EY, Jones K, Chari R, Machiela MJ, Yu K; Melanoma Meta-Analysis Consortium; Iles MM, Landi MT, Law MH, Chanock SJ, Brown KM, Choi J. Long E, et al. Among authors: jessop l. Am J Hum Genet. 2022 Dec 1;109(12):2210-2229. doi: 10.1016/j.ajhg.2022.11.006. Epub 2022 Nov 23. Am J Hum Genet. 2022. PMID: 36423637 Free PMC article.
A UVB-responsive common variant at chromosome band 7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor, AHR.
Xu M, Mehl L, Zhang T, Thakur R, Sowards H, Myers T, Jessop L, Chesi A, Johnson ME, Wells AD, Michael HT, Bunda P, Jones K, Higson H, Hennessey RC, Jermusyk A, Kovacs MA, Landi MT, Iles MM, Goldstein AM; Melanoma Meta-Analysis Consortium; Choi J, Chanock SJ, Grant SFA, Chari R, Merlino G, Law MH, Brown KM. Xu M, et al. Among authors: jessop l. Am J Hum Genet. 2021 Sep 2;108(9):1611-1630. doi: 10.1016/j.ajhg.2021.07.002. Epub 2021 Aug 2. Am J Hum Genet. 2021. PMID: 34343493 Free PMC article.
56 results