Lehman, Anna M.

Top Publications

Top Publications Authored or Co-Authored by "Lehman, Anna M."

• Exome sequencing and the management of neurometabolic disorders

  New England Journal of Medicine, Volume 374, No. 23, Year 2016, Citations 259
• Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

  npj Genomic Medicine, Volume 8, No. 1, Article 4, Year 2023, Citations 100
• Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

  American Journal of Human Genetics, Volume 100, No. 4, Year 2017, Citations 67
• PIGG variant pathogenicity assessment reveals characteristic features within 19 families

  Genetics in Medicine, Volume 23, No. 10, Year 2021, Citations 51
• Kdm5a mutations identified in autism spectrum disorder using forward genetics

  eLife, Volume 9, Article e56883, Year 2020, Citations 29