Dominic McMullan

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Morad Ansari, Alejandro Sifrim, Matthew E Hurles, 2015, Nature Genetics.

Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

Peter Hammond, Francesca Forzano, Oliver Quarrell, 2011, European Journal of Human Genetics.