Sally Ann Lynch

机构：University College Dublin, Children's Health Ireland at Crumlin, Temple Street Children's University Hospital · ORCID：0000-0003-3540-1333

发表论文 353 篇 · 总被引 14470 次 · h-index 62

代表论文

• Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee (2024 · European Journal of Medical Genetics · 被引 21)
• BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations (2024 · European Journal of Human Genetics · 被引 16)
• Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles (2024 · Human Genetics and Genomics Advances · 被引 13)
• De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome (2025 · Brain · 被引 9)
• Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder (2024 · Genetics in Medicine · 被引 7)
• Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance (2024 · Irish Journal of Medical Science (1971 -) · 被引 6)