Professor David FitzPatrick
Group Leader, Section Head
- MRC Human Genetics Unit
- Institute of Genetics and Cancer
Contact details
- Email: david.fitzpatrick@ed.ac.uk
Background
I studied medicine at UoE and then trained in paediatrics in Edinburgh, Bristol and Glasgow. I trained in clinical genetics in Glasgow as a Wellcome Trust Clinical Research Fellow and in Johns Hopkins Hospital in Baltimore on a Howard Hughes Medical Institute Clinical Research Fellowship. I have been a consultant in paediatric genetics in Edinburgh since 1994. My clinical interests are in paediatric neurodevelopmental disorders and syndrome identification. My research interests are in the identification of genetic causes of serious developmental disorders.
Qualifications
Education / Academic qualification
Bachelor of Medicine and Bachelor of Surgery, University of Edinburgh Doctor of Medicine, University of Edinburgh Clinical and Gene Expression Studies of Palate Development
Professional Qualifications
Fellow of the Royal College of Physicians Edinburgh, FRCP Edin Member of the College of Physicians, MRCP (UK)
-
De novo mutations in regulatory elements in neurodevelopmental disorders
(19 pages)
In:
Nature, vol. 555, pp. 611-+
DOI: https://doi.org/10.1038/nature25983
Research output: Contribution to Journal › Article (Published) -
ITPase Deficiency Causes a Martsolf-Like Syndrome With a Lethal Infantile Dilated Cardiomyopathy
In:
PLoS Genetics
DOI: https://doi.org/10.1371/journal.pgen.1007605
Research output: Contribution to Journal › Article (E-pub ahead of print) -
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
(10 pages)
In:
Nature Communications, vol. 10
DOI: https://doi.org/10.1038/s41467-019-10016-3
Research output: Contribution to Journal › Article (Published) -
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
In:
American Journal of Human Genetics
DOI: https://doi.org/10.1016/j.ajhg.2019.09.015
Research output: Contribution to Journal › Article (Published) -
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction
In:
Genetics in Medicine
DOI: https://doi.org/10.1038/s41436-019-0685-9
Research output: Contribution to Journal › Article (Published)