| Identifying, understanding, and correcting technical artifacts on the sex chromosomes in next-generation sequencing data TH Webster, M Couse, BM Grande, E Karlins, TN Phung, PA Richmond, ... GigaScience 8 (7), giz074, 2019 | 72 | 2019 |
| Identifying, understanding, and correcting technical biases on the sex chromosomes in next-generation sequencing data TH Webster, M Couse, BM Grande, E Karlins, TN Phung, PA Richmond, ... BioRxiv, 346940, 2018 | 72* | 2018 |
| 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, 2017 | 28 | 2017 |
| A label-free, sensitive, real-time, semiquantitative electrochemical measurement method for DNA polymerase amplification (ePCR) N Aydemir, H McArdle, S Patel, W Whitford, CW Evans, J Travas-Sejdic, ... Analytical chemistry 87 (10), 5189-5197, 2015 | 26 | 2015 |
| 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 |
| 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), 1-9, 2022 | 18 | 2022 |
| 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), 1-9, 2020 | 16 | 2020 |
| 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, 19–26, 2022 | 6 | 2022 |
| Identification of Genetic Copy Number Variants in Neurodevelopmental Disorders from Genome Sequence Data W Whitford University of Auckland, 2019 | 1 | 2019 |
| RBV: Read balance validator, a tool for prioritising copy number variations in germline conditions W Whitford, K Lehnert, RG Snell, JC Jacobsen Scientific reports 9 (1), 1-7, 2019 | | 2019 |
| RBV: Allele-specific copy-number validation of whole genome sequence and whole exome sequence data W Whitford, K Lehnert, RG Snell, JC Jacobsen EUROPEAN JOURNAL OF HUMAN GENETICS 26, 705-706, 2018 | | 2018 |
| Exome and genome sequencing results refine diagnoses and provide treatment options in a cohort of New Zealanders with neurodevelopmental disorders (P1. 304) R Hill, W Whitford, B Swan, J Taylor, K Lehnert, R Snell, J Jacobsen Neurology 90 (15 Supplement), 2018 | | 2018 |
| Telomere Shortening In COPD And Lung Cancer: A Pilot Study In Chronic Smokers RP Young, W Whitford, RJ Hopkins D99. NOVEL TRANSLATIONAL BIOMARKERS IN LUNG CANCER, A7539-A7539, 2016 | | 2016 |
| Telomeres: The Link Between Smoking, COPD and Lung Cancer? W Whitford University of Auckland, 2014 | | 2014 |
| Multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer W Whitford Faculty of Science Research Fellow Society Symposium–8 July 2022, 0 | | |
