Lynch, Sally Ann

Top Publications

Top Publications Authored or Co-Authored by "Lynch, Sally Ann"

• Mutations in the TGFβb binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

  American Journal of Human Genetics, Volume 89, No. 1, Year 2011, Citations 204
• Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

  American Journal of Human Genetics, Volume 97, No. 4, Year 2015, Citations 101
• Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

  Genetics in Medicine, Volume 23, No. 11, Year 2021, Citations 97
• Mutation screening in Börjeson-Forssman-Lehmann syndrome: Identification of a novel de novo PHF6 mutation in a female patient

  Journal of Medical Genetics, Volume 43, No. 3, Year 2006, Citations 48
• Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

  Journal of Medical Genetics, Volume 48, No. 6, Year 2011, Citations 46