| Preview | Issue Date | Title | Author(s) |
| 2019 | A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia | Cheah, 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. |
| 2020 | A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability | Fox, 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. |
| 2016 | A syntenic cross species aneuploidy genetic screen links RCAN1 expression to β-Cell mitochondrial dysfunction in type 2 diabetes | Peiris, H.; Duffield, M.D.; Fadista, J.; Jessup, C.F.; Kashmir, V.; Genders, A.J.; McGee, S.L.; Martin, A.M.; Saiedi, M.; Morton, N.; Carter, R.; Cousin, M.A.; Kokotos, A.C.; Oskolkov, N.; Volkov, P.; Hough, T.A.; Fisher, E.M.C.; Tybulewicz, V.L.J.; Busciglio, J.; Coskun, P.E.; et al.; Scott, H.S. |
| 2020 | Aberrant RAG-mediated recombination contributes to multiple structural rearrangements in lymphoid blast crisis of chronic myeloid leukemia | Thomson, D.W.; Shahrin, N.H.; Wang, P.P.S.; Wadham, C.; Shanmuganathan, N.; Scott, H.S.; Dinger, M.E.; Hughes, T.P.; Schreiber, A.W.; Branford, S. |
| 2016 | Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome | De Sousa, S.M.C.; Kassahn, K.S.; McIntyre, L.C.; Chong, C.E.; Scott, H.S.; Torpy, D.J. |
| 2018 | Genetic testing in endocrinology | De Sousa, S.M.C.; Hardy, T.S.E.; Scott, H.S.; Torpy, D.J. |
| 2019 | Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6 | Byrne, 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. |
| 2020 | Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome | Arts, P.; Garland, J.; Byrne, A.B.; Hardy, T.S.E.; Babic, M.; Feng, J.; Wang, P.; Ha, T.; King-Smith, S.L.; Schreiber, A.W.; Crawford, A.; Manton, N.; Moore, L.; Barnett, C.P.; Scott, H.S. |
| 2020 | Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis | Byrne, A.B.; Mizumoto, S.; Arts, P.; Yap, P.; Feng, J.; Schreiber, A.W.; Babic, M.; King-Smith, S.L.; Barnett, C.P.; Moore, L.; Sugahara, K.; Mutlu-Albayrak, H.; Nishimura, G.; Liebelt, J.E.; Yamada, S.; Savarirayan, R.; Scott, H.S. |
| 2012 | Rare and novel epidermal growth factor receptor mutations in non-small-cell lung cancer and lack of clinical response to gefitinib in two cases | Sharma, A.; Tan, T.H.; Cheetham, G.; Scott, H.S.; Brown, M.P. |
| 2020 | Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA) | Brown, A.L.; Hahn, C.N.; Scott, H.S. |
| 2020 | Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss | Venugopal, 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. |
