Key publications

De novo mutations in regulatory elements in neurodevelopmental disorders
(19 pages) 29 Mar 2018 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
11 Mar 2019 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) 30 May 2019 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
7 Nov 2019 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
8 Nov 2019 in Genetics in Medicine
DOI: https://doi.org/10.1038/s41436-019-0685-9
Research output: Contribution to Journal › Article (Published)

View all 191 publications on Research Explorer

Data last updated: 10/11/2021 at 16:42