| Preview | Issue Date | Title | Author(s) |
| 2018 | A four-gene lincRNA expression signature predicts risk in multiple cohorts of acute myeloid leukemia patients | Beck, D.; Thoms, J.; Palu, C.; Herold, T.; Shah, A.; Olivier, J.; Boelen, L.; Huang, Y.; Chacon, D.; Brown, A.; Babic, M.; Hahn, C.; Perugini, M.; Zhou, X.; Huntly, B.; Schwarzer, A.; Klusmann, J.-H.; Berdel, W.; Wörmann, B.; Büchner, T.; et al. |
| 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. |
| 2015 | A tale of two siblings: two cases of AML arising from a single pre-leukemic DNMT3A mutant clone | Hahn, C.; Ross, D.; Feng, J.; Beligaswatte, A.; Hiwase, D.; Parker, W.; Ho, M.; Zawitkowski, M.; Ambler, K.; Cheetham, G.; Lee, Y.; Babic, M.; Butcher, C.; Engler, G.; Brown, A.; D'Andrea, R.; Lewis, I.; Schreiber, A.; To, L.; Scott, H. |
| 2023 | Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders | Batkovskyte, D.; McKenzie, F.; Taylan, F.; Simsek-Kiper, P.O.; Nikkel, S.M.; Ohashi, H.; Miyahara, H.; Eriksson, G.; Ha, T.; Utine, G.E.; Chiu, T.; Shimizu, K.; Hammarsjo, A.; Boduroglu, K.; Arts, P.; Babic, M.; Jackson, M.R.; Papadogiannakis, N.; Lindstrand, A.; Nordgren, A.; et al. |
| 2021 | Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia | De Angelis, C.; Byrne, A.B.; Morrow, R.; Feng, J.; Ha, T.; Wang, P.; Schreiber, A.W.; Babic, M.; Taranath, A.; Manton, N.; King-Smith, S.L.; Schwarz, Q.; Arts, P.; Scott, H.S.; Barnett, C. |
| 2018 | Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes | Chong, 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. |
| 2023 | Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis | Ghaoui, R.; Ha, T.T.; Kerkhof, J.; McConkey, H.; Gao, S.; Babic, M.; King, R.; Ravenscroft, G.; Kocyzek, B.; Otto, S.; Laing, N.G.; Scott, H.; Sadikovic, B.; Kassahn, K.S. |
| 2023 | Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death | Byrne, A.B.; Arts, P.; Ha, T.T.; Kassahn, K.S.; Pais, L.S.; O'Donnell-Luria, A.; Broad Institute Center for Mendelian Genomics,; Babic, M.; Frank, M.S.B.; Feng, J.; Wang, P.; Lawrence, D.M.; Eshraghi, L.; Arriola, L.; Toubia, J.; Nguyen, H.; Genomic Autopsy Study Research Network,; McGillivray, G.; Pinner, J.; McKenzie, F.; et al. |
| 2011 | Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia | Hahn, C.; Chong, C.; Carmichael, C.; Wilkins, E.; Brautigan, P.; Li, X.; Babic, M.; Lin, M.; Carmagnac, A.; Lee, Y.; Kok, C.; Gagliardi, L.; Friend, K.; Ekert, P.; Butcher, C.; Brown, A.; Lewis, I.; To, L.; Timms, A.; Storek, J.; et al. |
| 2012 | Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature | Kazenwadel, J.; Secker, G.; Liu, Y.; Rosenfeld, J.; Wildin, R.; Cuellar-Rodriguez, J.; Hsu, A.; Dyack, S.; Fernandez, C.; Chong, C.; Babic, M.; Bardy, P.; Shimamura, A.; Zhang, M.; Walsh, T.; Holland, S.; Hickstein, D.; Horwitz, M.; Hahn, C.; Scott, H.; et al. |
| 2016 | Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies | Lewinsohn, M.; Brown, A.L.; Weinel, L.M.; Phung, C.; Rafidi, G.; Lee, M.K.; Schreiber, A.W.; Feng, J.; Babic, M.; Chong, C.E.; Lee, Y.; Yong, A.; Suthers, G.K.; Poplawski, N.; Altree, M.; Phillips, K.; Jaensch, L.; Fine, M.; D'Andrea, R.J.; Lewis, I.D.; et al. |
| 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. |
| 2022 | Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema | Byrne, A.B.; Brouillard, P.; Sutton, D.L.; Kazenwadel, J.; Montazaribarforoushi, S.; Secker, G.A.; Oszmiana, A.; Babic, M.; Betterman, K.L.; Brautigan, P.J.; White, M.; Piltz, S.G.; Thomas, P.Q.; Hahn, C.N.; Rath, M.; Felbor, U.; Korenke, G.C.; Smith, C.L.; Wood, K.H.; Sheppard, S.E.; et al. |
| 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. |
| 2015 | Revealing missing human protein isoforms based on ab initio prediction, RNA-seq and proteomics | Hu, 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. |
| 2020 | RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML | Brown, A.L.; Arts, P.; Carmichael, C.L.; Babic, M.; Dobbins, J.; Chong, C.-E.; Schreiber, A.W.; Feng, J.; Phillips, K.; Wang, P.P.S.; Ha, T.; Homan, C.C.; King-Smith, S.L.; Rawlings, L.; Vakulin, C.; Dubowsky, A.; Burdett, J.; Moore, S.; McKavanagh, G.; Henry, D.; et al. |
| 2021 | Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer | Singhal, 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. |
| 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. |
