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Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
Ricos MG, Hodgson BL, Pippucci T, Saidin A, Ong YS, Heron SE, Licchetta L, Bisulli F, Bayly MA, Hughes J, Baldassari S, Palombo F; Epilepsy Electroclinical Study Group; Santucci M, Meletti S, Berkovic SF, Rubboli G, Thomas PQ, Scheffer IE, Tinuper P, Geoghegan J, Schreiber AW, Dibbens LM. Ricos MG, et al. Among authors: geoghegan j. Ann Neurol. 2016 Jan;79(1):120-31. doi: 10.1002/ana.24547. Epub 2015 Dec 12. Ann Neurol. 2016. PMID: 26505888
Aberrant Splicing of SDHC in Families With Unexplained Succinate Dehydrogenase-Deficient Paragangliomas.
De Sousa SMC, Toubia J, Hardy TSE, Feng J, Wang P, Schreiber AW, Geoghegan J, Hall R, Rawlings L, Buckland M, Luxford C, Novos T, Clifton-Bligh RJ, Poplawski NK, Scott HS, Torpy DJ. De Sousa SMC, et al. Among authors: geoghegan j. J Endocr Soc. 2020 Jun 16;4(12):bvaa071. doi: 10.1210/jendso/bvaa071. eCollection 2020 Dec 1. J Endocr Soc. 2020. PMID: 33195952 Free PMC article.
Delayed diagnosis leading to accelerated-phase chronic eosinophilic leukemia due to a cytogenetically cryptic, imatinib-responsive TNIP1-PDFGRB fusion gene.
Ross DM, Altamura HK, Hahn CN, Nicola M, Yeoman AL, Holloway MR, Geoghegan J, Feng J, Schreiber AW, Branford S, Moore S, Scott HS. Ross DM, et al. Among authors: geoghegan j. Leukemia. 2016 Jun;30(6):1402-5. doi: 10.1038/leu.2015.301. Epub 2015 Oct 27. Leukemia. 2016. PMID: 26503642 No abstract available.
Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high-risk disease.
Branford S, Wang P, Yeung DT, Thomson D, Purins A, Wadham C, Shahrin NH, Marum JE, Nataren N, Parker WT, Geoghegan J, Feng J, Shanmuganathan N, Mueller MC, Dietz C, Stangl D, Donaldson Z, Altamura H, Georgievski J, Braley J, Brown A, Hahn C, Walker I, Kim SH, Choi SY, Park SH, Kim DW, White DL, Yong ASM, Ross DM, Scott HS, Schreiber AW, Hughes TP. Branford S, et al. Among authors: geoghegan j. Blood. 2018 Aug 30;132(9):948-961. doi: 10.1182/blood-2018-02-832253. Epub 2018 Jul 2. Blood. 2018. PMID: 29967129 Free article. Clinical Trial.
The mutational burden of therapy-related myeloid neoplasms is similar to primary myelodysplastic syndrome but has a distinctive distribution.
Singhal D, Wee LYA, Kutyna MM, Chhetri R, Geoghegan J, Schreiber AW, Feng J, Wang PP, Babic M, Parker WT, Hiwase S, Edwards S, Moore S, Branford S, Kuzmanovic T, Singhal N, Gowda R, Brown AL, Arts P, To LB, Bardy PG, Lewis ID, D'Andrea RJ, Maciejewski JP, Scott HS, Hahn CN, Hiwase DK. Singhal D, et al. Among authors: geoghegan j. Leukemia. 2019 Dec;33(12):2842-2853. doi: 10.1038/s41375-019-0479-8. Epub 2019 May 14. Leukemia. 2019. PMID: 31089247
HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse.
Lim SL, Qu ZP, Kortschak RD, Lawrence DM, Geoghegan J, Hempfling AL, Bergmann M, Goodnow CC, Ormandy CJ, Wong L, Mann J, Scott HS, Jamsai D, Adelson DL, O'Bryan MK. Lim SL, et al. Among authors: geoghegan j. PLoS Genet. 2015 Oct 23;11(10):e1005620. doi: 10.1371/journal.pgen.1005620. eCollection 2015 Oct. PLoS Genet. 2015. PMID: 26496356 Free PMC article.
Correction: HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse.
Lim SL, Qu ZP, Kortschak RD, Lawrence DM, Geoghegan J, Hempfling AL, Bergmann M, Goodnow CC, Ormandy CJ, Wong L, Mann J, Scott HS, Jamsai D, Adelson DL, O'Bryan MK. Lim SL, et al. Among authors: geoghegan j. PLoS Genet. 2015 Dec 29;11(12):e1005782. doi: 10.1371/journal.pgen.1005782. eCollection 2015 Dec. PLoS Genet. 2015. PMID: 26714033 Free PMC article. No abstract available.
Detection of clinically relevant copy number variants with whole-exome sequencing.
de Ligt J, Boone PM, Pfundt R, Vissers LE, Richmond T, Geoghegan J, O'Moore K, de Leeuw N, Shaw C, Brunner HG, Lupski JR, Veltman JA, Hehir-Kwa JY. de Ligt J, et al. Among authors: geoghegan j. Hum Mutat. 2013 Oct;34(10):1439-48. doi: 10.1002/humu.22387. Epub 2013 Aug 30. Hum Mutat. 2013. PMID: 23893877
379 results