Besnard, Thomas

Top Publications

Top Publications Authored or Co-Authored by "Besnard, Thomas"

• Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

  American Journal of Human Genetics, Volume 100, No. 4, Year 2017, Citations 67
• Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

  American Journal of Human Genetics, Volume 109, No. 10, Year 2022, Citations 63
• 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
• Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

  Orphanet Journal of Rare Diseases, Volume 10, No. 1, Article 135, Year 2015, Citations 54
• Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

  Genetics in Medicine, Volume 24, No. 8, Year 2022, Citations 51