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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: schreiber aw. 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.
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.
Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient.
Venugopal P, Moore S, Lawrence DM, George AJ, Hannan RD, Bray SC, To LB, D'Andrea RJ, Feng J, Tirimacco A, Yeoman AL, Young CC, Fine M, Schreiber AW, Hahn CN, Barnett C, Saxon B, Scott HS. Venugopal P, et al. Among authors: schreiber aw. Haematologica. 2017 Dec;102(12):e506-e509. doi: 10.3324/haematol.2017.166678. Epub 2017 Sep 29. Haematologica. 2017. PMID: 28971907 Free PMC article. No abstract available.
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.
A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia.
Cheah JJC, Brown AL, Schreiber AW, Feng J, Babic M, Moore S, Young CC, Fine M, Phillips K, Guandalini M, Wilson P, Poplawski N, Hahn CN, Scott HS. Cheah JJC, et al. Among authors: schreiber aw. Haematologica. 2019 Jul;104(7):e318-e321. doi: 10.3324/haematol.2018.207316. Epub 2019 Mar 28. Haematologica. 2019. PMID: 30923096 Free PMC article. No abstract available.
The Genomic Landscape of Sporadic Prolactinomas.
De Sousa SMC, Wang PPS, Santoreneos S, Shen A, Yates CJ, Babic M, Eshraghi L, Feng J, Koszyca B, Roberts-Thomson S, Schreiber AW, Torpy DJ, Scott HS. De Sousa SMC, et al. Among authors: schreiber aw. Endocr Pathol. 2019 Dec;30(4):318-328. doi: 10.1007/s12022-019-09587-0. Endocr Pathol. 2019. PMID: 31473917
64 results