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Page 1
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Tudini E, Andrews J, Lawrence DM, King-Smith SL, Baker N, Baxter L, Beilby J, Bennetts B, Beshay V, Black M, Boughtwood TF, Brion K, Cheong PL, Christie M, Christodoulou J, Chong B, Cox K, Davis MR, Dejong L, Dinger ME, Doig KD, Douglas E, Dubowsky A, Ellul M, Fellowes A, Fisk K, Fortuno C, Friend K, Gallagher RL, Gao S, Hackett E, Hadler J, Hipwell M, Ho G, Hollway G, Hooper AJ, Kassahn KS, Krishnaraj R, Lau C, Le H, San Leong H, Lundie B, Lunke S, Marty A, McPhillips M, Nguyen LT, Nones K, Palmer K, Pearson JV, Quinn MCJ, Rawlings LH, Sadedin S, Sanchez L, Schreiber AW, Sigalas E, Simsek A, Soubrier J, Stark Z, Thompson BA, U J, Vakulin CG, Wells AV, Wise CA, Woods R, Ziolkowski A, Brion MJ, Scott HS, Thorne NP, Spurdle AB; Shariant Consortium. Tudini E, et al. Among authors: rawlings lh. Am J Hum Genet. 2022 Nov 3;109(11):1960-1973. doi: 10.1016/j.ajhg.2022.10.006. Am J Hum Genet. 2022. PMID: 36332611 Free PMC article. Review.
GATA2 deficiency syndrome: A decade of discovery.
Homan CC, Venugopal P, Arts P, Shahrin NH, Feurstein S, Rawlings L, Lawrence DM, Andrews J, King-Smith SL, Harvey NL, Brown AL, Scott HS, Hahn CN. Homan CC, et al. Among authors: rawlings l. Hum Mutat. 2021 Nov;42(11):1399-1421. doi: 10.1002/humu.24271. Epub 2021 Aug 31. Hum Mutat. 2021. PMID: 34387894 Free PMC article.
RNF43 pathogenic Germline variant in a family with colorectal cancer.
Mikaeel RR, Young JP, Li Y, Poplawski NK, Smith E, Horsnell M, Uylaki W, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuß S, Müller C, Yigit G, Wollnik B, Scott H, Rawlings L, Henry D, Vakulin C, Dubowsky A, Price TJ. Mikaeel RR, et al. Among authors: rawlings l. Clin Genet. 2022 Jan;101(1):122-126. doi: 10.1111/cge.14064. Epub 2021 Sep 27. Clin Genet. 2022. PMID: 34541672
BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion.
Pandithan D, Klebe S, McKavanagh G, Rawlings L, Yu S, Nicholl J, Poplawski N. Pandithan D, et al. Among authors: rawlings l. Case Rep Genet. 2022 Sep 13;2022:5503505. doi: 10.1155/2022/5503505. eCollection 2022. Case Rep Genet. 2022. PMID: 36148247 Free PMC article.
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
Luo X, Feurstein S, Mohan S, Porter CC, Jackson SA, Keel S, Chicka M, Brown AL, Kesserwan C, Agarwal A, Luo M, Li Z, Ross JE, Baliakas P, Pineda-Alvarez D, DiNardo CD, Bertuch AA, Mehta N, Vulliamy T, Wang Y, Nichols KE, Malcovati L, Walsh MF, Rawlings LH, McWeeney SK, Soulier J, Raimbault A, Routbort MJ, Zhang L, Ryan G, Speck NA, Plon SE, Wu D, Godley LA. Luo X, et al. Among authors: rawlings lh. Blood Adv. 2019 Oct 22;3(20):2962-2979. doi: 10.1182/bloodadvances.2019000644. Blood Adv. 2019. PMID: 31648317 Free PMC article.
Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion.
Venugopal P, Arts P, Fox LC, Simons A, Hiwase DK, Bardy PG, Narcis A, Ross DM, van Vulpen LFD, Buijs A, Bolton KL, Getta B, Furlong E, Carter T A/Prof, Krapels I, Hoeks MPA, Al Kindy A, Al Kindy F, de Munnik S, Evans P, Frank MSB, Bournazos A, Cooper ST, Ha TT, Jackson MR, Arriola-Martinez LA, Phillips K, Brennan Y, Bakshi M, Ambler K, Gao S, Kassahn KS, Kenyon R, Hung K MBBS FRACP FRCPA, Babic M, McGovern A, Rawlings L, Valkulin C, Dejong L, Fathi R, McRae S, Myles N, Ladon D, Jongmans MC, Kuiper RP, Poplawski N, Barbaro PM, Blombery P, Brown AL, Hahn CN, Scott HS. Venugopal P, et al. Among authors: rawlings l. Blood Adv. 2024 Apr 25:bloodadvances.2023012331. doi: 10.1182/bloodadvances.2023012331. Online ahead of print. Blood Adv. 2024. PMID: 38662475 No abstract available.
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: rawlings l. 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.
19 results