Dr Jessie Jacobsen

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Senior Lecturer

Selected publications and creative works (Research Outputs)

  • 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, Don Love, 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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Primary office location

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

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