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PreviewIssue DateTitleAuthor(s)
2008TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafnessGuipponi, M.; Antonarakis, S.; Scott, H.
2014Many BCR-ABL1 compound mutations reported in chronic myeloid leukemia patients may actually be artifacts due to PCR-mediated recombinationParker, W.; Phillis, S.; Yeung, D.; Hughes, T.; Scott, H.; Branford, 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.
2022RNA-Based Targeted Gene Sequencing Improves the Diagnostic Yield of Mutant Detection in Chronic Myeloid Leukemia.Shanmuganathan, N.; Wadham, C.; Thomson, D.; Shahrin, N.H.; Vignaud, C.; Obourn, V.; Chaturvedi, S.; Yang, F.; Feng, J.; Saunders, V.; Kok, C.H.; Yeung, D.; King, R.M.; Kenyon, R.R.; Lin, M.; Wang, P.; Scott, H.; Hughes, T.; Schreiber, A.W.; Branford, S.
1995The molecular genetics of mucopolysaccharidosis type I : Diagnostic, clinical and biological implicationsScott, H.; Bunge, S.; Gal, A.; Clarke, L.; Morris, C.; Hopwood, J.
2008An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing lossGuipponi, M.; Toh, M.; Tan, J.; Park, D.; Hanson, K.; Ballana, E.; Kwong, D.; Cannon, P.; Wu, Q.; Gout, A.; Delorenzi, M.; Speed, T.; Smith, R.; Dahl, H.; Petersen, M.; Teasdale, R.; Estivill, X.; Park, W.; Scott, H.
2016Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implicationsGagliardi, L.; Burt, M.; Feng, J.; Poplawski, N.; Scott, H.
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.
2011RUNX1 Mutations are rare in chronic phase polycythaemia veraButcher, C.; Neufing, P.; Eriksson, L.; Carmichael, C.; Wilkins, E.; Vaz de Melo, J.; Lewis, I.; Bardy, P.; Scott, H.; D'Andrea, R.