Baylor Genetics

Top Publications

Top Publications Authored or Co-Authored in "Baylor Genetics"

• Pathogenic Germline Variants in 10,389 Adult Cancers

  Cell, Volume 173, No. 2, Year 2018, Citations 477
• Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

  EMBO Journal, Volume 37, No. 23, Article e100540, Year 2018, Citations 83
• A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8

  American Journal of Human Genetics, Volume 108, No. 6, Year 2021, Citations 47
• Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy

  Brain, Volume 145, No. 3, Year 2022, Citations 46
• MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

  Annals of Neurology, Volume 89, No. 4, Year 2021, Citations 45