Williams, Denise K.

Top Publications

Top Publications Authored or Co-Authored by "Williams, Denise K."

• Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

  Nature Genetics, Volume 48, No. 9, Year 2016, Citations 329
• De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

  Nature Genetics, Volume 49, No. 2, Year 2017, Citations 89
• Mutations in FLVCR2 Are Associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (Fowler Syndrome)

  American Journal of Human Genetics, Volume 86, No. 3, Year 2010, Citations 56
• 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
• The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

  Scientific Reports, Volume 10, No. 1, Article 1289, Year 2020, Citations 25