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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: schreiber aw. 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: schreiber aw. 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: schreiber aw. 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: schreiber aw. 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: schreiber aw. Leukemia. 2019 Dec;33(12):2842-2853. doi: 10.1038/s41375-019-0479-8. Epub 2019 May 14. Leukemia. 2019. PMID: 31089247
A Prox1 enhancer represses haematopoiesis in the lymphatic vasculature.
Kazenwadel J, Venugopal P, Oszmiana A, Toubia J, Arriola-Martinez L, Panara V, Piltz SG, Brown C, Ma W, Schreiber AW, Koltowska K, Taoudi S, Thomas PQ, Scott HS, Harvey NL. Kazenwadel J, et al. Among authors: schreiber aw. Nature. 2023 Feb;614(7947):343-348. doi: 10.1038/s41586-022-05650-9. Epub 2023 Jan 25. Nature. 2023. PMID: 36697821
A comparative analysis of algorithms for somatic SNV detection in cancer.
Roberts ND, Kortschak RD, Parker WT, Schreiber AW, Branford S, Scott HS, Glonek G, Adelson DL. Roberts ND, et al. Among authors: schreiber aw. Bioinformatics. 2013 Sep 15;29(18):2223-30. doi: 10.1093/bioinformatics/btt375. Epub 2013 Jul 9. Bioinformatics. 2013. PMID: 23842810 Free PMC article.
ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.
Gagliardi L, Schreiber AW, Hahn CN, Feng J, Cranston T, Boon H, Hotu C, Oftedal BE, Cutfield R, Adelson DL, Braund WJ, Gordon RD, Rees DA, Grossman AB, Torpy DJ, Scott HS. Gagliardi L, et al. Among authors: schreiber aw. J Clin Endocrinol Metab. 2014 Sep;99(9):E1784-92. doi: 10.1210/jc.2014-1265. Epub 2014 Jun 6. J Clin Endocrinol Metab. 2014. PMID: 24905064
ARMC5 is not implicated in familial hyperaldosteronism type II (FH-II).
De Sousa SMC, Stowasser M, Feng J, Schreiber AW, Wang P, Hahn CN, Gordon RD, Torpy DJ, Scott HS, Gagliardi L. De Sousa SMC, et al. Among authors: schreiber aw. J Hum Hypertens. 2017 Dec;31(12):857-859. doi: 10.1038/jhh.2017.71. Epub 2017 Oct 12. J Hum Hypertens. 2017. PMID: 29022889 No abstract available.
63 results