Australian Genomics Health Alliance

Top Publications

Top Publications Authored or Co-Authored in "Australian Genomics Health Alliance"

• ADPedKD: A Global Online Platform on the Management of Children With ADPKD

  Kidney International Reports, Volume 4, No. 9, Year 2019, Citations 100
• Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

  Human Mutation, Volume 41, No. 2, Year 2020, Citations 56
• Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

  Human Mutation, Volume 40, No. 3, Year 2019, Citations 34
• Sources of information used by patients prior to elective surgery: A scoping review

  BMJ Open, Volume 9, No. 8, Article e023080, Year 2019, Citations 15