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PreviewIssue DateTitleAuthor(s)
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.
1997Mutations among Italian mucopolysaccharidosis Type I patientsGatti, R.; Di Natale, P.; Villani, G.; Filocamo, M.; Muller, V.; Guo, X.H.; Nelson, P.; Scott, H.; Hopwood, J.
2010Poor prognosis in familial acute myeloid leukaemia with combined biallelic CEBPA mutations and downstream events affecting the ATM, FLT3 and CDX2 genesCarmichael, C.; Wilkins, E.; Bengtsson, H.; Horwitz, M.; Speed, T.; Vincent, P.; Young, G.; Hahn, C.; Escher, J.; Scott, H.
2011Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearingFasquelle, L.; Scott, H.; Lenoir, M.; Wang, J.; Rebillard, G.; Gaboyard, S.; Venteo, S.; Francois, F.; Masset-Bonnefont, A.; Antonarakis, S.; Neidhart, E.; Chabbert, C.; Puel, J.; Guipponi, M.; Delprat, B.
2010Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndromeJongmans, M.; Kuiper, R.; Carmichael, C.; Wilkins, E.; Dors, N.; Carmagnac, A.; Schouten-van Meeteren, N.; Li, X.; Stankovic, M.; Kamping, E.; Bengtsson, H.; Schoenmakers, M.; Geurts van Kessel, A.; Hoogerbrugge, P.; Hahn, C.; Brons, P.; Scott, H.; Hoogerbrugge, N.
2008Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patientsButcher, C.; Hahn, U.; To, L.; Gecz, J.; Wilkins, E.; Scott, H.; Bardy, P.; D'Andrea, R.
2011Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in hyperplastic polyposis syndromeDrini, M.; Wong, N.; Scott, H.; Craig, J.; Dobrovic, A.; Hewitt, C.; Dow, C.; Young, J.; Jenkins, M.; Saffery, R.; Macrae, F.; Oshima, R.
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.

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