Publication Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition.
Publication Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient.
Publication Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Publication Xpert® MTB/RIF for national tuberculosis programmes in low-income countries: when, where and how?
Publication Bi-directional associations between healthy lifestyles and mood disorders in young adults: The Childhood Determinants of Adult Health Study
