Miss Whitney Whitford

MSc Biology, BSc Biomedical Sciences

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Doctoral Candidate - Doctor of Philosophy

Research | Current

Investigating the bioinformatic identification of Copy Number Variants and other Structural Variants from genome sequence data

Selected publications and creative works (Research Outputs)

  • Whitford, W., Hawkins, I., Glamuzina, E., Wilson, F., Marshall, A., Ashton, F., ... Lehnert, K. (2017). Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease. Cold Spring Harbor Molecular Case Studies, 3 (6)10.1101/mcs.a001909
    Other University of Auckland co-authors: Jessie Jacobsen, Klaus Lehnert, Russell Snell, Don Love
  • Jacobsen, J. C., Whitford, W., Swan, B., Taylor, J., Love, D. R., Hill, R., ... Robertson, S. P. (2017). Compound heterozygous inheritance of mutations in coenzyme Q8A results in autosomal recessive cerebellar ataxia and coenzyme Q₁₀ deficiency in a female sib-pair. JIMD reports10.1007/8904_2017_73
    Other University of Auckland co-authors: Jessie Jacobsen, Russell Snell, Klaus Lehnert
  • Aydemir, N., McArdle, H., Patel, S., Whitford, W., Evans, C. W., Travas-Sejdic, J., & Williams, D. E. (2015). A Label-Free, Sensitive, Real-Time, Semiquantitative Electrochemical Measurement Method for DNA Polymerase Amplification (ePCR). Analytical chemistry, 87 (10), 5189-5197. 10.1021/acs.analchem.5b00079
    URL: http://hdl.handle.net/2292/26820
    Other University of Auckland co-authors: Jadranka Travas-Sejdic, David Williams, Clive Evans
  • Whitford, W. C. (2014). Telomeres: the link between smoking, COPD and lung cancer? The University of Auckland. ResearchSpace@Auckland.
    URL: http://hdl.handle.net/2292/22584

Identifiers

Contact details

Primary office location

THOMAS BUILDING EXTENSION - Bldg 110N
Level 2, Room 2002
3A SYMONDS ST
AUCKLAND 1010
New Zealand

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