Guillen-Sacoto, Maria J.

Top Publications

Top Publications Authored or Co-Authored by "Guillen-Sacoto, Maria J."

• De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

  American Journal of Human Genetics, Volume 107, No. 2, Year 2020, Citations 92
• Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

  American Journal of Human Genetics, Volume 102, No. 5, Year 2018, Citations 59
• Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

  Human Mutation, Volume 41, No. 2, Year 2020, Citations 56
• Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

  Genetics in Medicine, Volume 24, No. 10, Year 2022, Citations 48
• Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

  American Journal of Human Genetics, Volume 98, No. 4, Year 2016, Citations 24