Falk, Marni J.

Top Publications

Top Publications Authored or Co-Authored by "Falk, Marni J."

• Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

  American Journal of Human Genetics, Volume 93, No. 3, Year 2013, Citations 141
• A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

  Genetics in Medicine, Volume 24, No. 7, Year 2022, Citations 100
• 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
• Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

  Genetics in Medicine, Volume 23, No. 10, Year 2021, Citations 99
• Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

  American Journal of Human Genetics, Volume 98, No. 6, Year 2016, Citations 41