Pais, Lynn S.

Top Publications

Top Publications Authored or Co-Authored by "Pais, Lynn S."

• A form of muscular dystrophy associated with pathogenic variants in JAG2

  American Journal of Human Genetics, Volume 108, No. 5, Year 2021, Citations 58
• A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

  European Journal of Human Genetics, Volume 29, No. 2, Year 2021, Citations 46
• Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

  Neuron, Volume 109, No. 2, Year 2021, Citations 37
• Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling

  Genetics in Medicine, Volume 24, No. 8, Year 2022, Citations 25
• ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies

  American Journal of Human Genetics, Volume 108, No. 10, Year 2021, Citations 23