About
8
Publications
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593
Citations
Citations since 2017
Education
July 2009 - May 2013
University of Otago
Field of study
- Anatomy and Structural Biology
August 2005 - May 2009
Publications
Publications (8)
Precise tests for genomic structural variation (SV) are essential for accurate diagnosis of prenatal genome abnormalities. The two most ubiquitous traditional methods for prenatal SV assessment, karyotyping and chromosomal microarrays, do not provide sufficient resolution for some clinically actionable SVs. Standard whole-genome sequencing (WGS) ov...
X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative disease that is endemic to the Philippines and is associated with a founder haplotype. We integrated multiple genome and transcriptome assembly technologies to narrow the causal mutation to the TAF1 locus, which included a SINE-VNTR-Alu (SVA) retrotransposition into intron 32 of...
X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative disease endemic to the Philippines. We integrated genome and transcriptome assembly with induced pluripotent stem cell-based modeling to identify the XDP causal locus and potential pathogenic mechanism. Genome sequencing identified novel variation that was shared by all probands...
Background
Structural variation (SV) influences genome organization and contributes to human disease. However, the complete mutational spectrum of SV has not been routinely captured in disease association studies.
Results
We sequenced 689 participants with autism spectrum disorder (ASD) and other developmental abnormalities to construct a genome-w...
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexit...
We present mixed-stock analyses of mtDNA haplotypes for allocation of humpback whales (Megaptera novaeangliae) from three Antarctic feeding areas to low-latitude breeding grounds. These breeding grounds include New Caledonia, Tonga, Cook Islands, French Polynesia, Colombia and Western Australia. Migratory allocation was estimated using the program...
