List of works - Tiong Y Tan

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

scientific article

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

scientific article

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

scientific article

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

scientific article published on 3 March 2016

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

scientific article

Biallelic DICER1 mutations occur in Wilms tumours.

scientific article published in June 2013

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia

scientific article published on 28 May 2009

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

scientific article

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

scientific article published on 09 July 2018

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence

scientific article

A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.

scientific article

Developmental and genetic perspectives on Pierre Robin sequence

scientific article published on 11 October 2013

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

scientific article published on 15 May 2009

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

Phenotypic variability of distal 22q11.2 copy number abnormalities

article

Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome

scientific journal article

Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes

article

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

scientific article

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations

article

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

scientific article published on 11 October 2013

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

scientific article published on March 2016

Clinical and molecular characterization of duplications encompassing the humanSHOXgene reveal a variable effect on stature

scientific article published in July 2009

The clinical impact of chromosomal microarray on paediatric care in Hong Kong

scientific article

Questionable pathogenicity of FOXG1 duplication.

scientific article published on 18 January 2012

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

scientific article

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

scientific article published on 16 February 2018

SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia

scientific article published on 8 June 2015

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Clinical comparison of overlapping deletions of 19p13.3.

scientific article published on 01 May 2013

Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature.

scientific article

SYT1-associated neurodevelopmental disorder: a case series

scientific article published on 01 September 2018

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

scientific article published on 17 September 2018

Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.

scientific article published on 29 October 2016

Two sisters with IMAGe syndrome: Cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review

scientific article published on 01 August 2006

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

scientific article

The cell biology and molecular genetics of Müllerian duct development.

scientific article

Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia

scientific article published on 11 December 2017

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

scientific article published on 7 December 2017

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

scientific article published on 24 September 2018

A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

scientific article

Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.

scientific article published in November 2007

A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.

scientific article

Developmental perspectives on copy number abnormalities of the 22q11.2 region.

scientific article published on 23 April 2010

A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome

scientific article published on 01 December 2005

A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - is cardiac assessment necessary for all patients with 17p13.3 microduplication?

scientific article published on 09 October 2012

Rare syndromes of the head and face—Pierre Robin sequence

scientific article published on May 14, 2012

Genotype and phenotype spectrum of NRAS germline variants

scientific article published on 3 May 2017

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor

scientific article published on 22 December 2017

Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location.

scientific article published in June 2005

List of works by Tiong Y Tan

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

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

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

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

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

Biallelic DICER1 mutations occur in Wilms tumours.

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia

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

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

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence

A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.

Developmental and genetic perspectives on Pierre Robin sequence

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

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

Phenotypic variability of distal 22q11.2 copy number abnormalities

Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome

Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

Clinical and molecular characterization of duplications encompassing the humanSHOXgene reveal a variable effect on stature

The clinical impact of chromosomal microarray on paediatric care in Hong Kong

Questionable pathogenicity of FOXG1 duplication.

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

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

SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Clinical comparison of overlapping deletions of 19p13.3.

Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature.

SYT1-associated neurodevelopmental disorder: a case series

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.

Two sisters with IMAGe syndrome: Cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

The cell biology and molecular genetics of Müllerian duct development.

Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.

A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.

Developmental perspectives on copy number abnormalities of the 22q11.2 region.

A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome

A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - is cardiac assessment necessary for all patients with 17p13.3 microduplication?

Rare syndromes of the head and face—Pierre Robin sequence

Genotype and phenotype spectrum of NRAS germline variants

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor

Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location.