| Characterizing the O-glycosylation landscape of human plasma, platelets, and endothelial cells SL King, HJ Joshi, KT Schjoldager, A Halim, TD Madsen, MH Dziegiel, ... Blood advances 1 (7), 429-442, 2017 | 149 | 2017 |
| RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML AL Brown, P Arts, CL Carmichael, M Babic, J Dobbins, CE Chong, ... Blood advances 4 (6), 1131-1144, 2020 | 131 | 2020 |
| Global functions of O‐glycosylation: promises and challenges in O‐glycobiology HH Wandall, MAI Nielsen, S King‐Smith, N de Haan, I Bagdonaite The FEBS journal 288 (24), 7183-7212, 2021 | 113 | 2021 |
| Deconstruction of O‐glycosylation—Gal NA c‐T isoforms direct distinct subsets of the O‐glycoproteome KT Schjoldager, HJ Joshi, Y Kong, CK Goth, SL King, HH Wandall, ... EMBO reports 16 (12), 1713-1722, 2015 | 104 | 2015 |
| Global mapping of O-glycosylation of varicella zoster virus, human cytomegalovirus, and Epstein-Barr virus I Bagdonaite, R Norden, HJ Joshi, SL King, SY Vakhrushev, S Olofsson, ... Journal of Biological Chemistry 291 (23), 12014-12028, 2016 | 77 | 2016 |
| Gene network disruptions and neurogenesis defects in the adult Ts1Cje mouse model of Down syndrome CA Hewitt, KH Ling, TD Merson, KM Simpson, ME Ritchie, SL King, ... PLoS One 5 (7), e11561, 2010 | 68 | 2010 |
| Grhl3 and Lmo4 play coordinate roles in epidermal migration NR Hislop, J Caddy, SB Ting, A Auden, S Vasudevan, SL King, ... Developmental biology 321 (1), 263-272, 2008 | 58 | 2008 |
| GATA2 deficiency syndrome: a decade of discovery CC Homan, P Venugopal, P Arts, NH Shahrin, S Feurstein, L Rawlings, ... Human Mutation 42 (11), 1399-1421, 2021 | 42 | 2021 |
| Parental experiences of ultrarapid genomic testing for their critically unwell infants and children GR Brett, M Martyn, F Lynch, MG de Silva, S Ayres, L Gallacher, K Boggs, ... Genetics in Medicine 22 (12), 1976-1985, 2020 | 40 | 2020 |
| The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy CC Homan, SL King-Smith, DM Lawrence, P Arts, J Feng, J Andrews, ... Haematologica 106 (11), 3004, 2021 | 37 | 2021 |
| TAILS N-terminomics and proteomics reveal complex regulation of proteolytic cleavage by O-glycosylation SL King, CK Goth, U Eckhard, HJ Joshi, AD Haue, SY Vakhrushev, ... Journal of Biological Chemistry 293 (20), 7629-7644, 2018 | 31 | 2018 |
| Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema AB Byrne, P Brouillard, DL Sutton, J Kazenwadel, S Montazaribarforoushi, ... Science translational medicine 14 (634), eabm4869, 2022 | 26 | 2022 |
| Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death AB Byrne, P Arts, TT Ha, KS Kassahn, LS Pais, A O’Donnell-Luria, ... Nature Medicine 29 (1), 180-189, 2023 | 25 | 2023 |
| Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41 CC Homan, MW Drazer, K Yu, DM Lawrence, J Feng, L Arriola-Martinez, ... Blood Advances 7 (20), 6092-6107, 2023 | 20 | 2023 |
| A validated collection of mouse monoclonal antibodies to human glycosyltransferases functioning in mucin-type O-glycosylation C Steentoft, Z Yang, S Wang, T Ju, MB Vester-Christensen, MF Festari, ... Glycobiology 29 (9), 645-656, 2019 | 19 | 2019 |
| Clonal hematopoiesis in patients with ANKRD26 or ETV6 germline mutations MW Drazer, CC Homan, K Yu, M Cavalcante de Andrade Silva, ... Blood advances 6 (15), 4357-4359, 2022 | 18 | 2022 |
| Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation E Tudini, J Andrews, DM Lawrence, SL King-Smith, N Baker, L Baxter, ... The American Journal of Human Genetics 109 (11), 1960-1973, 2022 | 16 | 2022 |
| Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1‐related syndrome P Arts, J Garland, AB Byrne, TSE Hardy, M Babic, J Feng, P Wang, T Ha, ... American Journal of Medical Genetics Part A 182 (5), 1273-1277, 2020 | 14 | 2020 |
| Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis AB Byrne, S Mizumoto, P Arts, P Yap, J Feng, AW Schreiber, M Babic, ... Journal of Medical Genetics 57 (7), 454-460, 2020 | 13 | 2020 |
| Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia C De Angelis, AB Byrne, R Morrow, J Feng, T Ha, P Wang, AW Schreiber, ... BMC Medical Genomics 14, 1-7, 2021 | 10 | 2021 |
