| The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ... Nature genetics 49 (1), 36-45, 2017 | 311 | 2017 |
| Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration C Chiang, JC Jacobsen, C Ernst, C Hanscom, A Heilbut, I Blumenthal, ... Nature genetics 44 (4), 390-397, 2012 | 283 | 2012 |
| An ovine transgenic Huntington's disease model JC Jacobsen, CS Bawden, SR Rudiger, CJ McLaughlan, SJ Reid, ... Human molecular genetics 19 (10), 1873-1882, 2010 | 240 | 2010 |
| De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias KL Helbig, RJ Lauerer, JC Bahr, IA Souza, CT Myers, B Uysal, N Schwarz, ... The American Journal of Human Genetics 103 (5), 666-678, 2018 | 113 | 2018 |
| HD CAG-correlated gene expression changes support a simple dominant gain of function JC Jacobsen, GC Gregory, JM Woda, MN Thompson, KR Coser, V Murthy, ... Human molecular genetics 20 (14), 2846-2860, 2011 | 81 | 2011 |
| Metabolic disruption identified in the Huntington’s disease transgenic sheep model RR Handley, SJ Reid, S Patassini, SR Rudiger, V Obolonkin, ... Scientific reports 6 (1), 20681, 2016 | 61 | 2016 |
| Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates SJ Reid, S Patassini, RR Handley, SR Rudiger, CJ McLaughlan, ... Journal of Huntington's disease 2 (3), 279-295, 2013 | 57 | 2013 |
| Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder JC Jacobsen, C Wilson, V Cunningham, E Glamuzina, DO Prosser, ... Journal of inherited metabolic disease 39, 305-308, 2016 | 39 | 2016 |
| The New Zealand minds for minds autism spectrum disorder self-reported cohort J Virues-Ortega, K Lehnert, B Swan, MW Taylor, A Southee, D Dougan, ... Research in Autism Spectrum Disorders 36, 1-7, 2017 | 29 | 2017 |
| Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a … JC Jacobsen, W Whitford, B Swan, J Taylor, DR Love, R Hill, S Molyneux, ... JIMD Reports, Volume 42, 31-36, 2018 | 28 | 2018 |
| Evaluation of the performance of copy number variant prediction tools for the detection of deletions from whole genome sequencing data W Whitford, K Lehnert, RG Snell, JC Jacobsen Journal of biomedical informatics 94, 103174, 2019 | 25 | 2019 |
| Genomic medicine must reduce, not compound, health inequities: the case for hauora-enhancing genomic resources for New Zealand SP Robertson, JH Hindmarsh, S Berry, VA Cameron, MP Cox, O Dewes, ... The New Zealand Medical Journal (Online) 131 (1480), 81-89, 2018 | 24 | 2018 |
| Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease W Whitford, I Hawkins, E Glamuzina, F Wilson, A Marshall, F Ashton, ... Molecular Case Studies 3 (6), a001909, 2017 | 21 | 2017 |
| Proof of concept for multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer W Whitford, V Hawkins, KS Moodley, MJ Grant, K Lehnert, RG Snell, ... Scientific reports 12 (1), 8572, 2022 | 18 | 2022 |
| Potential molecular consequences of transgene integration: The R6/2 mouse example JC Jacobsen, S Erdin, C Chiang, C Hanscom, RR Handley, DD Barker, ... Scientific reports 7 (1), 41120, 2017 | 18 | 2017 |
| Penetrance and expressivity of the R858H CACNA1C variant in a five‐generation pedigree segregating an arrhythmogenic channelopathy RJMK Gardner, IG Crozier, AL Binfield, DR Love, K Lehnert, K Gibson, ... Molecular genetics & genomic medicine 7 (1), e00476, 2019 | 17 | 2019 |
| Contaminating DNA in human saliva alters the detection of variants from whole genome sequencing CA Samson, W Whitford, RG Snell, JC Jacobsen, K Lehnert Scientific reports 10 (1), 19255, 2020 | 16 | 2020 |
| Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans AT Young, KN Ly, C Wilson, K Lehnert, RG Snell, SJ Reid, JC Jacobsen Disease Models & Mechanisms 11 (11), dmm035709, 2018 | 9 | 2018 |
| Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability J Poquérusse, W Whitford, J Taylor, S Alburaiky, RG Snell, K Lehnert, ... Journal of Human Genetics 67 (1), 19-26, 2022 | 6 | 2022 |
| Comparison of Huntington’s disease CAG repeat length stability in human motor cortex and cingulate gyrus FCA Geraerts, RG Snell, RLM Faull, L Williams, JC Jacobsen, SJ Reid Journal of Huntington's Disease 5 (3), 297-301, 2016 | 6 | 2016 |
