Dr Jessie Jacobsen

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Senior Lecturer

Selected publications and creative works (Research Outputs)

As of 29 October 2020 there will be no automatic updating of 'selected publications and creative works' from Research Outputs. Please continue to keep your Research Outputs profile up to date.
  • Whitford, W., Lehnert, K., Snell, R. G., & Jacobsen, J. C. (2019). RBV: Read balance validator, a tool for prioritising copy number variations in germline conditions. Scientific reports, 9 (1)10.1038/s41598-019-53181-7
    Other University of Auckland co-authors: Whitney Whitford, Klaus Lehnert, Russell Snell
  • Whitford, W., Lehnert, K., Snell, R. G., & Jacobsen, J. C. (2019). Evaluation of the performance of copy number variant prediction tools for the detection of deletions from whole genome sequencing data. Journal of biomedical informatics, 9410.1016/j.jbi.2019.103174
    Other University of Auckland co-authors: Russell Snell, Whitney Whitford, Klaus Lehnert
  • Helbig, K. L., Lauerer, R. J., Bahr, J. C., Souza, I. A., Myers, C. T., Uysal, B., ... Keren, B. (2019). De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. American journal of human genetics, 104 (3)10.1016/j.ajhg.2019.02.015
    Other University of Auckland co-authors: Russell Snell
  • Gardner, R. J. M., Crozier, I. G., Binfield, A. L., Love, D. R., Lehnert, K., Gibson, K., ... Jones, P. P. (2019). Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy. Molecular genetics & genomic medicine, 7 (1)10.1002/mgg3.476
    Other University of Auckland co-authors: Russell Snell, Klaus Lehnert, Jonathan Skinner
  • Young, A. T., Ly, K. N., Wilson, C., Lehnert, K., Snell, R. G., Reid, S. J., & Jacobsen, J. C. (2018). Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans. Disease models & mechanisms, 11 (11).10.1242/dmm.035709
    Other University of Auckland co-authors: Russell Snell, Klaus Lehnert, Suzanne Reid
  • Helbig, K. L., Lauerer, R. J., Bahr, J. C., Souza, I. A., Myers, C. T., Uysal, B., ... Keren, B. (2018). De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. American journal of human genetics, 103 (5), 666-678. 10.1016/j.ajhg.2018.09.006
    Other University of Auckland co-authors: Klaus Lehnert, Russell Snell
  • Whitford, W., Lehnert, K., Snell, R. G., & Jacobsen, J. C. (2018). RBV: Allele-specific copy-number validation of whole genome sequence and whole exome sequence data. Paper presented at 50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, DENMARK. 27 May - 30 May 2017. EUROPEAN JOURNAL OF HUMAN GENETICS. (pp. 2).
  • Robertson, S. P., Hindmarsh, J. H., Berry, S., Cameron, V. A., Cox, M. P., Dewes, O., ... Laurence, A. (2018). Genomic medicine must reduce, not compound, health inequities: the case for hauora-enhancing genomic resources for New Zealand. The New Zealand medical journal, 131 (1480), 81-89.
    Other University of Auckland co-authors: Rob Doughty, Ofa Dewes, Andrew Shelling, Russell Snell, Cristin Print, Andrew Sporle, Jonathan Skinner, Paul Hofman

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THOMAS BUILDING EXTENSION - Bldg 110N
Level 3, Room 3008
3A SYMONDS ST
NZL
AUCKLAND 1010
New Zealand

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