W. Whitford

发表

Identifying, understanding, and correcting technical biases on the sex chromosomes in next-generation sequencing data

Phillip A. Richmond, E. Karlins, P. Richmond, 2018, bioRxiv.

Identification of Genetic Copy Number Variants in Neurodevelopmental Disorders from Genome Sequence Data

W. Whitford, Whitney Whitford, 2019 .

Identifying, understanding, and correcting technical artifacts on the sex chromosomes in next-generation sequencing data

Whitney Whitford, Phillip A. Richmond, Bruno M Grande, 2019, GigaScience.

Proof of concept for multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer

J. C. Jacobsen, R. Snell, W. Whitford, 2022, Scientific Reports.

Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease

Whitney Whitford, Klaus Lehnert, Russell G. Snell, 2017, Cold Spring Harbor molecular case studies.

Contaminating DNA in human saliva alters the detection of variants from whole genome sequencing

J. C. Jacobsen, R. Snell, W. Whitford, 2020, Scientific Reports.

RBV: Read balance validator, a tool for prioritising copy number variations in germline conditions

Whitney Whitford, Klaus Lehnert, Russell G. Snell, 2018, Scientific Reports.

Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability

J. C. Jacobsen, R. Snell, W. Whitford, 2021, Journal of Human Genetics.

Optimised multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer

J. C. Jacobsen, R. Snell, W. Whitford, 2021, bioRxiv.

Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability

J. C. Jacobsen, R. Snell, W. Whitford, 2021, Journal of Human Genetics.

Evaluation of the performance of copy number variant prediction tools for the detection of deletions from whole genome sequencing data

Whitney Whitford, Klaus Lehnert, Russell G Snell, 2018, bioRxiv.

A Label-Free, Sensitive, Real-Time, Semiquantitative Electrochemical Measurement Method for DNA Polymerase Amplification (ePCR).

David E. Williams, J. Travas-sejdic, W. Whitford, 2015, Analytical chemistry.

Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair.

Rosamund Hill, S. Robertson, J. C. Jacobsen, 2018, JIMD reports.