Tiong Yang Tan

Research interests

Publications

• Genome Sequencing for Diagnosing Rare Diseases

  New England Journal of Medicine · 2024 · https://doi.org/10.1056/nejmoa2314761

• De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

  Nature · 2024 · https://doi.org/10.1038/s41586-024-07773-7

• Integrated multi-omics for rapid rare disease diagnosis on a national scale

  Nature Medicine · 2023 · https://doi.org/10.1038/s41591-023-02401-9

• A dyadic approach to the delineation of diagnostic entities in clinical genomics

  The American Journal of Human Genetics · 2021 · https://doi.org/10.1016/j.ajhg.2020.11.013

• Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

  JAMA · 2020 · https://doi.org/10.1001/jama.2020.7671

• Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

  npj Genomic Medicine · 2018 · https://doi.org/10.1038/s41525-018-0053-8

• Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

  Genetics in Medicine · 2018 · https://doi.org/10.1038/s41436-018-0006-8

• Meeting the challenges of implementing rapid genomic testing in acute pediatric care

  Genetics in Medicine · 2018 · https://doi.org/10.1038/gim.2018.37

• SYT1-associated neurodevelopmental disorder: a case series

  Brain · 2018 · https://doi.org/10.1093/brain/awy209

• Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders

  European Journal of Human Genetics · 2018 · https://doi.org/10.1038/s41431-018-0099-1

• Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

  Archives of Pediatrics and Adolescent Medicine · 2017 · https://doi.org/10.1001/jamapediatrics.2017.1755

• Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

  Genome biology · 2016 · https://doi.org/10.1186/s13059-016-1105-y

• A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

  Genetics in Medicine · 2016 · https://doi.org/10.1038/gim.2016.1

• Biallelic DICER1 mutations occur in Wilms tumours

  The Journal of Pathology · 2013 · https://doi.org/10.1002/path.4196

• Developmental and genetic perspectives on Pierre Robin sequence

  American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2013 · https://doi.org/10.1002/ajmg.c.31374

• Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

  Nature Genetics · 2012 · https://doi.org/10.1038/ng.2414

• Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

  Nature Genetics · 2009 · https://doi.org/10.1038/ng.373

• Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

  Journal of Medical Genetics · 2009 · https://doi.org/10.1136/jmg.2008.065391

• Long-range regulation at the SOX9 locus in development and disease: Figure 1

  Journal of Medical Genetics · 2009 · https://doi.org/10.1136/jmg.2009.068361

• Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

  The American Journal of Human Genetics · 2007 · https://doi.org/10.1086/521373

• Tumour surveillance in Beckwith–Wiedemann syndrome and hemihyperplasia: A critical review of the evidence and suggested guidelines for local practice

  Journal of Paediatrics and Child Health · 2006 · https://doi.org/10.1111/j.1440-1754.2006.00908.x

• Genetic Dissection of Ethanol Tolerance in the Budding Yeast Saccharomyces cerevisiae

  Genetics · 2006 · https://doi.org/10.1534/genetics.106.065292

Current projects

No projects listed.