Lista de obras - Tiong Y Tan - Dominio Público Uruguay

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

scientific article published on 18 July 2019

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

artículo científico publicado en 2014

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?

artículo científico publicado en 2012

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

artículo científico publicado en 2008

A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus?

scientific article published on 01 October 2007

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

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico publicado en 2005

Biallelic DICER1 mutations occur in Wilms tumours.

artículo científico publicado en 2013

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

scientific journal article

Cerebral hypomyelination associated with biallelic variants of FIG4

scientific article published on 28 February 2019

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

artículo científico publicado en 2015

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

artículo científico publicado en 2019

Clinical and Molecular Characterisation of Children with Pierre Robin Sequence and Additional Anomalies

scientific article published on 15 September 2016

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

artículo científico publicado en 2009

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

artículo científico publicado en 2007

Clinical comparison of overlapping deletions of 19p13.3.

artículo científico publicado en 2013

Communicating microarray results of uncertain clinical significance in consultation summary letters and implications for practice.

artículo científico publicado en 2016

Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1

artículo científico publicado en 2015

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

artículo científico publicado en 2019

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

article

Developmental and genetic perspectives on Pierre Robin sequence

artículo científico

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Distinctive collection of fetal anomalies: cleft lip and palate, multicystic dysplastic kidneys, 1-2 syndactyly, heterotopic olivary tissue and thymic hypoplasia.

artículo científico publicado en 2006

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

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing

scientific article published on 29 July 2019

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

artículo científico publicado en 2017

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

scientific article published on 23 September 2020

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico

Genotype and phenotype spectrum of NRAS germline variants

artículo científico publicado en 2017

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

artículo científico publicado en 2022

Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches

scientific article published on 01 December 2018

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

artículo científico publicado en 2014

Juvenile papillomatosis of the breast associated with neurofibromatosis 1

scientific article published on 01 September 2007

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

artículo científico publicado en 2018

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program

artículo científico publicado en 2021

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

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

artículo científico publicado en 2007

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

artículo científico publicado en 2017

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

article

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

artículo científico publicado en 2014

Obesity, hypothyroidism, craniosynostosis, cardiac hypertrophy, colitis, and developmental delay: a novel syndrome.

artículo científico publicado en 2007

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

artículo científico publicado en 2009

Phenotypic variability of distal 22q11.2 copy number abnormalities

article

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

artículo científico publicado en 2005

Questionable pathogenicity of FOXG1 duplication.

artículo científico publicado en 2012

Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disability

artículo científico publicado en 2021

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

artículo científico publicado en 2015

SYT1-associated neurodevelopmental disorder: a case series

artículo científico publicado en 2018

The cell biology and molecular genetics of Müllerian duct development.

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2006

YPEL1 overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up-regulating apoptosis.

artículo científico publicado en 2015

Lista de obras de Tiong Y Tan

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

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

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

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

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?

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

A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus?

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

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

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

Biallelic DICER1 mutations occur in Wilms tumours.

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

Cerebral hypomyelination associated with biallelic variants of FIG4

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

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

Clinical and Molecular Characterisation of Children with Pierre Robin Sequence and Additional Anomalies

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

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Clinical comparison of overlapping deletions of 19p13.3.

Communicating microarray results of uncertain clinical significance in consultation summary letters and implications for practice.

Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1

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

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

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

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

Developmental and genetic perspectives on Pierre Robin sequence

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

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

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

Distinctive collection of fetal anomalies: cleft lip and palate, multicystic dysplastic kidneys, 1-2 syndactyly, heterotopic olivary tissue and thymic hypoplasia.

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

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing

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

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

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

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

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

Genotype and phenotype spectrum of NRAS germline variants

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches

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

Juvenile papillomatosis of the breast associated with neurofibromatosis 1

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

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program

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

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

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

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

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

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

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

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

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

Obesity, hypothyroidism, craniosynostosis, cardiac hypertrophy, colitis, and developmental delay: a novel syndrome.

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

Phenotypic variability of distal 22q11.2 copy number abnormalities

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

Questionable pathogenicity of FOXG1 duplication.

Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disability

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

SYT1-associated neurodevelopmental disorder: a case series

The cell biology and molecular genetics of Müllerian duct development.

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

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.

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

YPEL1 overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up-regulating apoptosis.