Dan Doherty

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

Brian J. O’Roak, Laura Vives, Wenqing Fu et al. · Science · 2012 · 1.3K citations · Full text

A human cell atlas of fetal gene expression

Junyue Cao, Diana R. O’Day, Hannah A. Pliner et al. · Science · 2020 · 780 citations · Full text

A human cell atlas of fetal chromatin accessibility

Silvia Domcke, Andrew J. Hill, Riza M. Daza et al. · Science · 2020 · 443 citations · Full text

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

Heleen H. Arts, Dan Doherty, Sylvia E. C. van Beersum et al. · Nature Genetics · 2007 · 321 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Ian G. Phelps et al. · Journal of Medical Genetics · 2015 · 293 citations · Full text