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Page 1
Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition.
Zerella JR, Homan CC, Arts P, Lin X, Spinelli SJ, Venugopal P, Babic M, Brautigan PJ, Truong L, Arriola-Martinez L, Moore S, Hollins R, Parker WT, Nguyen H, Kassahn KS, Branford S, Feurstein S, Larcher L, Sicre de Fontbrune F, Demirdas S, de Munnik S, Antoine-Poirel H, Brichard B, Mansour S, Gordon K, Wlodarski MW, Koppayi A, Dobbins S, Mutsaers PGNJ, Nichols KE, Oak N, DeMille D, Mao R, Crawford A, McCarrier J, Basel D, Flores-Daboub J, Drazer MW, Phillips K, Poplawski NK, Birdsey GM, Pirri D, Ostergaard P, Simons A, Godley LA, Ross DM, Hiwase DK, Soulier J, Brown AL, Carmichael CL, Scott HS, Hahn CN. Zerella JR, et al. Among authors: brautigan pj. Blood. 2024 Oct 24;144(17):1765-1780. doi: 10.1182/blood.2024024607. Blood. 2024. PMID: 38991192 Free PMC article.
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.
Byrne AB, Brouillard P, Sutton DL, Kazenwadel J, Montazaribarforoushi S, Secker GA, Oszmiana A, Babic M, Betterman KL, Brautigan PJ, White M, Piltz SG, Thomas PQ, Hahn CN, Rath M, Felbor U, Korenke GC, Smith CL, Wood KH, Sheppard SE, Adams DM, Kariminejad A, Helaers R, Boon LM, Revencu N, Moore L, Barnett C, Haan E, Arts P, Vikkula M, Scott HS, Harvey NL. Byrne AB, et al. Among authors: brautigan pj. Sci Transl Med. 2022 Mar 2;14(634):eabm4869. doi: 10.1126/scitranslmed.abm4869. Epub 2022 Mar 2. Sci Transl Med. 2022. PMID: 35235341
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
Hahn CN, Chong CE, Carmichael CL, Wilkins EJ, Brautigan PJ, Li XC, Babic M, Lin M, Carmagnac A, Lee YK, Kok CH, Gagliardi L, Friend KL, Ekert PG, Butcher CM, Brown AL, Lewis ID, To LB, Timms AE, Storek J, Moore S, Altree M, Escher R, Bardy PG, Suthers GK, D'Andrea RJ, Horwitz MS, Scott HS. Hahn CN, et al. Among authors: brautigan pj. Nat Genet. 2011 Sep 4;43(10):1012-7. doi: 10.1038/ng.913. Nat Genet. 2011. PMID: 21892162 Free PMC article.
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Brown AL, Arts P, Carmichael CL, Babic M, Dobbins J, Chong CE, Schreiber AW, Feng J, Phillips K, Wang PPS, Ha T, Homan CC, King-Smith SL, Rawlings L, Vakulin C, Dubowsky A, Burdett J, Moore S, McKavanagh G, Henry D, Wells A, Mercorella B, Nicola M, Suttle J, Wilkins E, Li XC, Michaud J, Brautigan P, Cannon P, Altree M, Jaensch L, Fine M, Butcher C, D'Andrea RJ, Lewis ID, Hiwase DK, Papaemmanuil E, Horwitz MS, Natsoulis G, Rienhoff HY, Patton N, Mapp S, Susman R, Morgan S, Cooney J, Currie M, Popat U, Bochtler T, Izraeli S, Bradstock K, Godley LA, Krämer A, Fröhling S, Wei AH, Forsyth C, Mar Fan H, Poplawski NK, Hahn CN, Scott HS. Brown AL, et al. Among authors: brautigan p. Blood Adv. 2020 Mar 24;4(6):1131-1144. doi: 10.1182/bloodadvances.2019000901. Blood Adv. 2020. PMID: 32208489 Free PMC article.
Genome-wide gene expression profiling identifies overlap with malignant adrenocortical tumours and novel mechanisms of inefficient steroidogenesis in familial ACTH-independent macronodular adrenal hyperplasia.
Gagliardi L, Ling KH, Kok CH, Carolan J, Brautigan P, Kenyon R, D'Andrea RJ, Van der Hoek M, Hahn CN, Torpy DJ, Scott HS. Gagliardi L, et al. Among authors: brautigan p. Endocr Relat Cancer. 2012 May 24;19(3):L19-23. doi: 10.1530/ERC-11-0210. Print 2012 Jun. Endocr Relat Cancer. 2012. PMID: 22383426 Free article. No abstract available.
In depth analysis of the Sox4 gene locus that consists of sense and natural antisense transcripts.
Ling KH, Brautigan PJ, Moore S, Fraser R, Leong MP, Leong JW, Zainal Abidin S, Lee HC, Cheah PS, Raison JM, Babic M, Lee YK, Daish T, Mattiske DM, Mann JR, Adelson DL, Thomas PQ, Hahn CN, Scott HS. Ling KH, et al. Among authors: brautigan pj. Data Brief. 2016 Feb 17;7:282-90. doi: 10.1016/j.dib.2016.01.045. eCollection 2016 Jun. Data Brief. 2016. PMID: 26958646 Free PMC article.
Deep sequencing analysis of the developing mouse brain reveals a novel microRNA.
Ling KH, Brautigan PJ, Hahn CN, Daish T, Rayner JR, Cheah PS, Raison JM, Piltz S, Mann JR, Mattiske DM, Thomas PQ, Adelson DL, Scott HS. Ling KH, et al. Among authors: brautigan pj. BMC Genomics. 2011 Apr 5;12:176. doi: 10.1186/1471-2164-12-176. BMC Genomics. 2011. PMID: 21466694 Free PMC article.