Browsing "University Library" by Author Hahn, C.N.

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Showing results 1 to 7 of 7
PreviewIssue DateTitleAuthor(s)
2017A method for next-generation sequencing of paired diagnostic and remission Samples to detect mitochondrial DNA mutations associated with leukemiaPagani, I.S.; Kok, C.H.; Saunders, V.A.; Van der Hoek, M.B.; Heatley, S.L.; Schwarer, A.P.; Hahn, C.N.; Hughes, T.P.; White, D.L.; Ross, D.M.
2019A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemiaCheah, J.J.C.; Brown, A.L.; Schreiber, A.W.; Feng, J.; Babic, M.; Moore, S.; Young, C.C.; Fine, M.; Phillips, K.; Guandalini, M.; Wilson, P.; Poplawski, N.; Hahn, C.N.; Scott, H.S.
2020A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variabilityFox, L.C.; Tan, M.; Brown, A.L.; Arts, P.; Thompson, E.; Ryland, G.L.; Lickiss, J.; Scott, H.S.; Poplawski, N.K.; Phillips, K.; Came, N.A.; James, P.; Ting, S.B.; Ritchie, D.S.; Szer, J.; Hahn, C.N.; Schwarer, A.; Blombery, P.
2019Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6Byrne, A.B.; Arts, P.; Polyak, S.W.; Feng, J.; Schreiber, A.W.; Kassahn, K.S.; Hahn, C.N.; Mordaunt, D.A.; Fletcher, J.M.; Lipsett, J.; Bratkovic, D.; Booker, G.W.; Smith, N.J.; Scott, H.S.
2020Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA)Brown, A.L.; Hahn, C.N.; Scott, H.S.
2021Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancerSinghal, D.; Hahn, C.N.; Feurstein, S.; Wee, L.Y.A.; Moma, L.; Kutyna, M.M.; Chhetri, R.; Eshraghi, L.; Schreiber, A.W.; Feng, J.; Wang, P.P.-S.; Babic, M.; Parker, W.T.; Gao, S.; Moore, S.; Das, S.; Thomas, D.; Pattnaik, S.; Brown, A.L.; D'Andrea, R.J.; et al.
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.