Browsing "University Library" by Author Venugopal, P.

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Showing results 1 to 6 of 6
PreviewIssue DateTitleAuthor(s)
2015Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopeniaHahn, C.; Brautigan, P.; Chong, C.; Janssan, A.; Venugopal, P.; Lee, Y.; Tims, A.; Horwitz, M.; Klingler-Hoffmann, M.; Scott, H.
2018Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypesChong, C.-E.; Venugopal, P.; Stokes, P.; Lee, Y.; Brautigan, P.; Yeung, D.; Babic, M.; Engler, G.; Lane, S.; Klingler-Hoffmann, M.; Matthews, J.; D'Andrea, R.; Brown, A.; Hahn, C.; Scott, H.
2015Revealing missing human protein isoforms based on ab initio prediction, RNA-seq and proteomicsHu, Z.; Scott, H.; Qin, G.; Zheng, G.; Chu, X.; Xie, L.; Adelson, D.; Oftedal, B.; Venugopal, P.; Babic, M.; Hahn, C.; Zhang, B.; Wang, X.; Li, N.; Wei, C.
2017Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan Anemia patientVenugopal, P.; Moore, S.; Lawrence, D.; George, A.; Hannan, R.; Bray, S.; To, L.; D Andrea, R.; Feng, J.; Tirimacco, A.; Yeoman, A.; Young, C.; Fine, M.; Schreiber, A.; Hahn, C.; Barnett, C.; Saxon, B.; Scott, H.
2015Splice factor mutations and alternative splicing as drivers of hematopoietic malignancyHahn, C.; Venugopal, P.; Scott, H.; Hiwase, D.
2020Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing lossVenugopal, P.; Gagliardi, L.; Forsyth, C.; Feng, J.; Phillips, K.; Babic, M.; Poplawski, N.K.; Rienhoff, H.Y.; Schreiber, A.W.; Hahn, C.N.; Brown, A.L.; Scott, H.S.