Dr David A. Parry (PhD)
Research Fellow
- MRC Human Genetics Unit
- MRC Institute of Genetics and Molecular Medicine
Contact details
- Tel: +44 (0)131 651 8025
- Email: david.parry@igmm.ed.ac.uk
Background
David received his PhD from the University of Leeds Section of Ophthalmology and Neuroscience, where he studied the molecular genetics of inherited blindness. While working towards his PhD he identified two novel genetic causes of retinal degeneration. Following his PhD he took up a postdoctoral position at the Section of Genetics at the University of Leeds where he combined his interests in bioinformatics and molecular genetics to work on the identification and characterisation of novel rare disease genes using massively parallel sequencing technologies.
David took up a postdoctoral position in Edinburgh in 2015 where he has worked on the genetics of Motor Neurone Disease, Ehlers-Danlos syndromes and developmental disorders. His current work in Andrew Jackson's lab concerns identifying the genetic causes of extreme growth failure.
David has helped identify and publish over 30 genetic causes of rare disease to date and is particularly interested in devleoping novel strategies for disease gene identification.
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Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland
In:
Journal of Neurology
DOI: https://doi.org/10.1007/s00415-022-11505-0
Research output: Contribution to Journal › Article (Published) -
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy
In:
Nature Communications, vol. 13, pp. 6664
DOI: https://doi.org/10.1038/s41467-022-34349-8
Research output: Contribution to Journal › Article (Published) -
Signatures of TOP1 transcription-associated mutagenesis in cancer and germline
In:
Nature, vol. 602, pp. 623-631
DOI: https://doi.org/10.1038/s41586-022-04403-y
Research output: Contribution to Journal › Article (Published) -
Loss of Integrin-linked kinase sensitizes breast cancer to SRC inhibitors
In:
Cancer Research
DOI: https://doi.org/10.1158/0008-5472.CAN-21-0373
Research output: Contribution to Journal › Article (E-pub ahead of print) -
A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection
In:
PLoS Biology, vol. 18, pp. e3001030
DOI: https://doi.org/10.1371/journal.pbio.3001030
Research output: Contribution to Journal › Article (E-pub ahead of print) -
PRIM1 Deficiency Causes a Distinctive Primordial Dwarfism Syndrome
(14 pages)
In:
Genes and Development, vol. 34, pp. 1520-1533
DOI: https://doi.org/10.1101/gad.340190.120
Research output: Contribution to Journal › Article (Published) -
Heterozygous Lamin B1 and Lamin B2 Variants cause Primary Microcephaly and Define a Novel Laminopathy
In:
Genetics in Medicine, vol. 23, pp. 408–414
DOI: https://doi.org/10.1038/s41436-020-00980-3
Research output: Contribution to Journal › Article (E-pub ahead of print) -
Biallelic variants in DNA2 cause microcephalic primordial dwarfism
In:
Human Mutation: Variation, Informatics and Disease, vol. 40, pp. 1063-1070
DOI: https://doi.org/10.1002/humu.23776
Research output: Contribution to Journal › Article (Published) -
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
In:
American Journal of Human Genetics
DOI: https://doi.org/10.1016/j.ajhg.2019.01.007
Research output: Contribution to Journal › Article (Published) -
Gain of function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of polycomb-regulated regions
(10 pages)
In:
Nature Genetics, vol. 51, pp. 96–105
DOI: https://doi.org/10.1038/s41588-018-0274-x
Research output: Contribution to Journal › Article (Published)
I've written a variety of open source tools for genomic analyses available here: https://github.com/david-a-parry/
Examples include:
https://github.com/david-a-parry/vase
https://github.com/david-a-parry/ReVERSe
https://github.com/david-a-parry/autoprimer3
https://github.com/david-a-parry/MutationMapper