James, Kiely N.

Top Publications

Top Publications Authored or Co-Authored by "James, Kiely N."

• Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

  American Journal of Human Genetics, Volume 100, No. 4, Year 2017, Citations 67
• Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

  Journal of Clinical Investigation, Volume 129, No. 3, Year 2019, Citations 58
• Biallelic variants in KIF14 cause intellectual disability with microcephaly

  European Journal of Human Genetics, Volume 26, No. 3, Year 2018, Citations 53
• Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

  Human Genetics, Volume 137, No. 9, Year 2018, Citations 45
• Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

  American Journal of Human Genetics, Volume 99, No. 1, Year 2016, Citations 43