Adés, Lesley C.

Top Publications

Top Publications Authored or Co-Authored by "Adés, Lesley C."

• RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

  Human Mutation, Volume 34, No. 12, Year 2013, Citations 221
• Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

  Genetics in Medicine, Volume 23, No. 11, Year 2021, Citations 100
• Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

  Human Mutation, Volume 41, No. 2, Year 2020, Citations 56
• Evaluation of clinical manifestations in patients with severe lymphedema with and without CCBE1 mutations

  Molecular Syndromology, Volume 4, No. 3, Year 2013, Citations 54
• Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes

  Human Genetics, Volume 123, No. 5, Year 2008, Citations 19