Sanlaville, Damien

Top Publications

Top Publications Authored or Co-Authored by "Sanlaville, Damien"

• Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity

  Journal of Experimental Medicine, Volume 204, No. 10, Year 2007, Citations 396
• Optical genome mapping enables constitutional chromosomal aberration detection

  American Journal of Human Genetics, Volume 108, No. 8, Year 2021, Citations 98
• Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome

  Clinical Genetics, Volume 89, No. 2, Year 2016, Citations 76
• 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
• 16p13.11 microduplication in 45 new patients: Refined clinical significance and genotype-phenotype correlations

  Journal of Medical Genetics, Volume 57, No. 5, Year 2020, Citations 45