Copeland, Brett R.

Top Publications

Top Publications Authored or Co-Authored by "Copeland, Brett R."

• Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

  Nature Genetics, Volume 47, No. 7, Year 2015, Citations 185
• Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

  Nature Genetics, Volume 47, No. 5, Year 2015, Citations 113
• Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

  eLife, Volume 4, No. MAY, Article e06602, Year 2015, Citations 105
• Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein formin 2, cause nonsyndromic autosomal-recessive intellectual disability

  American Journal of Human Genetics, Volume 95, No. 6, Year 2014, Citations 58
• Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome

  Annals of Neurology, Volume 84, No. 5, Year 2018, Citations 35