Baynam, Gareth S.

Top Publications

Top Publications Authored or Co-Authored by "Baynam, Gareth S."

• The human phenotype ontology in 2021

  Nucleic Acids Research, Volume 49, No. D1, Year 2021, Citations 623
• Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

  Human Mutation, Volume 41, No. 2, Year 2020, Citations 56
• Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

  Human Mutation, Volume 39, No. 9, Year 2018, Citations 36
• Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International

  Frontiers in Public Health, Volume 11, Article 1079601, Year 2023, Citations 32
• Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants

  Journal of Bone and Mineral Research, Volume 36, No. 3, Year 2021, Citations 21