Brunet, Theresa

Top Publications

Top Publications Authored or Co-Authored by "Brunet, Theresa"

• GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

  Nature Genetics, Volume 54, No. 3, Year 2022, Citations 69
• 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
• Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans

  American Journal of Human Genetics, Volume 110, No. 7, Year 2023, Citations 39
• Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence

  Genetics in Medicine, Volume 25, No. 7, Article 100836, Year 2023, Citations 31
• Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

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