Publication | Open Access

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

Functional GenomicsDevelopmental BiologyMendelian DisorderGenetic DisorderGeneticsComputational BiologyGene DiscoveryGene CharacterizationMendelian ConditionsDisease Gene IdentificationSocial NetworkingMedicineBioinformatics