| Germline mutations and somatic inactivation of TRIM28 in Wilms tumour BJ Halliday, R Fukuzawa, DM Markie, RG Grundy, JL Ludgate, MA Black, ... PLoS genetics 14 (6), e1007399, 2018 | 56 | 2018 |
| The X‐linked filaminopathies: Synergistic insights from clinical and molecular analysis EM Wade, BJ Halliday, ZA Jenkins, AC O'Neill, SP Robertson Human mutation 41 (5), 865-883, 2020 | 43 | 2020 |
| Expanding the molecular and clinical phenotypes of FUT8‐CDG BG Ng, H Dastsooz, M Silawi, P Habibzadeh, SB Jahan, MAF Fard, ... Journal of inherited metabolic disease 43 (4), 871-879, 2020 | 33 | 2020 |
| Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism M Chopra, M McEntagart, J Clayton-Smith, K Platzer, A Shukla, ... The American Journal of Human Genetics 108 (6), 1138-1150, 2021 | 26 | 2021 |
| Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype SGW Driver, MR Jackson, K Richter, P Tomlinson, B Brockway, ... European Journal of Human Genetics 28 (4), 445-452, 2020 | 21 | 2020 |
| Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth FL Harms, P Parthasarathy, D Zorndt, M Alawi, S Fuchs, BJ Halliday, ... Human mutation 41 (9), 1645-1661, 2020 | 17 | 2020 |
| Wilms tumor in patients with osteopathia striata with cranial sclerosis A Bach, J Mi, M Hunter, BJ Halliday, S García-Miñaúr, F Sperotto, ... European Journal of Human Genetics 29 (3), 396-401, 2021 | 14 | 2021 |
| Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis J Mi, P Parthasarathy, BJ Halliday, T Morgan, J Dean, MJM Nowaczyk, ... Genes 11 (12), 1439, 2020 | 8 | 2020 |
| Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles S Haghshenas, HJ Bout, JM Schijns, MA Levy, J Kerkhof, P Bhai, ... Human Genetics and Genomics Advances 5 (3), 2024 | 3 | 2024 |
| Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome BJ Halliday, G Baynam, L Ewans, L Greenhalgh, RJ Leventer, DT Pilz, ... American Journal of Neuroradiology 43 (11), 1660-1666, 2022 | 3 | 2022 |
| Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants DH Pham, MR Pitman, R Kumar, LA Jolly, R Schulz, AE Gardner, ... Human mutation 42 (8), 1030-1041, 2021 | 3 | 2021 |
| Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase AG Jones, M Aquilino, RJ Tinker, L Duncan, Z Jenkins, GL Carvill, ... The American Journal of Human Genetics 111 (4), 729-741, 2024 | 2 | 2024 |
| Defining potential inequities in the design and analysis of clinical chromosomalmicroarrays in Aotearoa. BJ Halliday, K Claxton, R Beddow, A Beddow, S Swart, M Greenslade, ... 266th Otago Medical School Research Society Meeting-Research Staff Speaker …, 2023 | | 2023 |
| Building a brain-from genes to phenotypes BJ Halliday, ZA Jenkins, DM Markie, SP Robertson 255th Otago Medical School Research Society Meeting-PhD Student Speaker Awards, 2021 | | 2021 |
| Genetic Insights into Neurogenesis through the Study of Periventricular Nodular Heterotopia BJ Halliday University of Otago, 2021 | | 2021 |
| Brain malformation and white matter abnormalities associated with LSS-related neuroectodermal syndrome A Vanderver, L Kratz, C Simons, S Robertson, MA Abbott, R Kelley, ... Twin Research and Human Genetics, 2021 | | 2021 |
