T. Tan

发表

Long-range regulation at the SOX9 locus in development and disease

D. Fitzpatrick, S. Lyonnet, P. Farlie, 2009, Journal of Medical Genetics.

SYT1-associated neurodevelopmental disorder: a case series

Ingo Borggraefe, Giuseppe Marangi, Yunyun Jiang, 2018, Brain : a journal of neurology.

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

M. Zenker, K. Kutsche, D. Amor, 2018, American journal of medical genetics. Part A.

Juvenile papillomatosis of the breast associated with neurofibromatosis 1

D. Amor, C. Chow, T. Tan, 2007, Pediatric blood & cancer.

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

Jonathan C. Fuller, D. Bonthron, E. Bertini, 2009, Nature Genetics.

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

L. Lagae, A. Vanderver, K. Devriendt, 2015, American journal of medical genetics. Part A.

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

John H Livingston, Roberta Battini, Ivana Olivieri, 2012, Nature Genetics.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

A. Green, D. Bonthron, E. Bertini, 2007, American journal of human genetics.

Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy

P. James, S. Lunke, I. Macciocca, 2021, Genetics in Medicine.

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

Michael F. Wangler, E. Zackai, J. Lupski, 2014, American journal of human genetics.

Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome

L. Vissers, N. Brown, B. D. de Vries, 2021, medRxiv.

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

A. Pagnamenta, B. Chung, S. Guter, 2021, Journal of Medical Genetics.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.

M. Caulfield, E. McDonagh, Catherine Snow, 2021, American journal of human genetics.

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

Melbourne Genomics Health Alliance, Natalie B Tan, D. Phelan, 2018, Genetics in Medicine.

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

Clara Gaff, Alicia Oshlack, Peter Georgeson, 2017, JAMA pediatrics.

Patient safety in genomic medicine: an exploratory study

Clara Gaff, Dylan Mordaunt, Alicia Oshlack, 2016, Genetics in Medicine.

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

H. Hakonarson, J. Hurst, J. Christodoulou, 2020, Science Advances.

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

P. Lockhart, S. Kapoor, J. Milunsky, 2019, Journal of Human Genetics.

Pooled-parent exome sequencing to prioritise de novo variants in genetic disease

A. Oshlack, Z. Stark, S. White, 2019, bioRxiv.

Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology

P. Farlie, P. Yap, T. Tan, 2016, Molecular Syndromology.

Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome

J. Bertram, P. Farlie, M. Freckmann, 2013, PLoS genetics.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, Theodore G. Drivas, J. Constantino, 2023, Science advances.

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome

I. Scheffer, S. Berkovic, Z. Stark, 2022, American journal of medical genetics. Part A.

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

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

L. Vissers, N. Brown, B. D. de Vries, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

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

Marni J. Falk, Ellen F. Macnamara, J. Schuurs-Hoeijmakers, 2018, Genetics in Medicine.

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

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature Genetics.

Genotype and phenotype spectrum of NRAS germline variants

H. Cavé, M. Ahmadian, M. Tartaglia, 2017, European Journal of Human Genetics.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

Cerebral hypomyelination associated with biallelic variants of FIG4

P. Lockhart, A. Vanderver, M. Meisler, 2019, Human mutation.

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

D. MacArthur, N. Brown, A. O’Donnell-Luria, 2021, Journal of Medical Genetics.

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

S. Aftimos, A. Slavotinek, J. Moeschler, 2009, Journal of Medical Genetics.

Questionable pathogenicity of FOXG1 duplication

M. Pertile, D. Amor, T. Burgess, 2012, European Journal of Human Genetics.

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

S. Fisher, A. Morgan, Cristina Mei, 2017, European Journal of Human Genetics.

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

N. Brown, N. Thorne, D. Phelan, 2019, European Journal of Human Genetics.

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

S. Kingsmore, L. Farnaes, D. Dimmock, 2018, npj Genomic Medicine.

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

K. Alam, Z. Stark, S. Lunke, 2018, Genetics in Medicine.

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

I. Scheffer, Anand Vasudevan, K. Oliver, 2022, European Journal of Human Genetics.

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

B. Chung, R. Hennekam, L. Biesecker, 2016, American journal of human genetics.

MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases

W. Reardon, J. Christodoulou, U. Engelke, 2023, Journal of inherited metabolic disease.

Genomic testing in premature ovarian insufficiency: proceed with caution

A. Sinclair, Z. Stark, E. Tucker, 2022, Biology of Reproduction.

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

P. Striano, L. Bird, D. Chitayat, 2022, Brain : a journal of neurology.

Clinical lesson learned from genetic analysis in patients prior to surgical repair of hypospadias

A. Sinclair, K. Ayers, Gorjana Robevska, 2022, Asian journal of urology.

Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy

E. Morava, S. White, J. Yaplito-Lee, 2020, JIMD reports.

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

N. Brown, Natalie B Tan, D. Phelan, 2020, Molecular genetics & genomic medicine.

A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

N. Brown, Natalie B Tan, D. Phelan, 2020, Genetics in Medicine.

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

S. Sandaradura, K. Kassahn, Meredith Wilson, 2023, Nature Medicine.

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

N. Brown, J. Christodoulou, Z. Stark, 2019, European Journal of Human Genetics.

Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.

I. Scheffer, M. Tartaglia, J. Christodoulou, 2020, American journal of human genetics.

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

P. Farlie, K. Miller, C. Gordon, 2015, Developmental dynamics : an official publication of the American Association of Anatomists.

Response to Hamosh et al.

C. Haldeman-Englert, M. Bamshad, I. Glass, 2021, American journal of human genetics.

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

John Hutson, Alicia Oshlack, Tiong Yang Tan, 2016, Genome Biology.

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

Marc S. Williams, E. Zackai, C. Haldeman-Englert, 2021, American journal of human genetics.

Biallelic DICER1 mutations occur in Wilms tumours

W. Foulkes, M. Eccles, A. Reeve, 2013, The Journal of pathology.

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.

P. Lockhart, C. Nellåker, D. Wieczorek, 2021, American journal of human genetics.

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

N. Brown, S. Sandaradura, T. Roscioli, 2020, JAMA.

Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.

W. Chung, I. Helbig, J. Christodoulou, 2020, American journal of human genetics.

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

M. Cowley, G. Enns, Meredith Wilson, 2019, Journal of clinical medicine.

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

Jean L Paul, T. Burgess, T. Tan, 2016, European Journal of Human Genetics.

Parental experiences and genetic counsellor roles in Pierre Robin sequence

L. Forrest, N. Kilpatrick, Supriya Raj, 2020, Journal of Community Genetics.

Parental experiences and genetic counsellor roles in Pierre Robin sequence

L. Forrest, Supriya Raj, Nicky M. Kilpatrick, 2020, Journal of Community Genetics.

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

S. Goergen, G. McGillivray, S. White, 2005, American journal of medical genetics. Part A.

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

R. Hofstra, J. Christodoulou, C. Bole-Feysot, 2020, American journal of human genetics.

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

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature Genetics.

KBG syndrome: An Australian experience

M. Tekin, T. Roscioli, Meredith Wilson, 2017 .

SYT1-associated neurodevelopmental disorder: a case series

R. Gibbs, S. Boyd, I. Borggraefe, 2018, Brain : a journal of neurology.

Phenotypic variability of distal 22q11.2 copy number abnormalities

J. Crolla, A. Collins, Z. Stark, 2011, American journal of medical genetics. Part A.

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

Zornitza Stark, Tiong Y Tan, Susan M White, 2018, npj Genomic Medicine.

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

H. Brunner, J. McGrath, T. Rinne, 2008, Human molecular genetics.

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?

E. Lau, K. Y. Chan, B. Chung, 2012, European journal of medical genetics.

Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature

N. S. Thomas, J. Rankin, S. Tomkins, 2009, American journal of medical genetics. Part A.

The cell biology and molecular genetics of Müllerian duct development

A. Sinclair, A. Major, C. Smith, 2018, Wiley interdisciplinary reviews. Developmental biology.

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

P. Farlie, A. Penington, N. Kilpatrick, 2016 .

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

Nicky Kilpatrick, Jessie X Xu, Naomi L Baker, 2016, Molecular syndromology.

Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence

Axel Visel, Morad Ansari, Arnold Munnich, 2014, Human mutation.

development and disease locus in SOX9 Long-range regulation at the

S. Lyonnet, P. Farlie, C. Gordon, 2009 .

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

Clara Gaff, Alicia Oshlack, Harriet Dashnow, 2017, European Journal of Human Genetics.

Phenotype delineation of ZNF462 related syndrome

E. Zackai, N. Fleischer, K. Boycott, 2019, American journal of medical genetics. Part A.

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

H. Hakonarson, C. Siao, E. Puffenberger, 2017, American Journal of Human Genetics.

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

J. Beckmann, A. Innes, A. Baxova, 2009, American journal of human genetics.

Developmental and genetic perspectives on Pierre Robin sequence

P. Farlie, T. Tan, N. Kilpatrick, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

A meta-analysis of the diagnostic sensitivity and clinical utility of genome sequencing, exome sequencing and chromosomal microarray in children with suspected genetic diseases

S. Kingsmore, L. Farnaes, D. Dimmock, 2018, bioRxiv.

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

E. Haan, D. David, I. Glass, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

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

P. Farlie, A. Penington, T. Tan, 2016, Molecular Syndromology.

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

N. Brown, E. Haan, F. McKenzie, 2018, Genetics in Medicine.

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

D. Amor, T. Tan, T. Tan, 2006, Journal of paediatrics and child health.

Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).

J. Christodoulou, B. Kamien, D. Phelan, 2020, Journal of genetics and genomics = Yi chuan xue bao.

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

P. Mitchell, D. Mackey, A. Hewitt, 2009, Human Genetics.

Cognitive, academic, and behavioral functioning in school-aged children born with esophageal atresia.

R. Hunt, A. Burnett, Esther A Hutchinson, 2021, Journal of pediatric surgery.

KBG syndrome: An Australian experience.

M. Tekin, T. Roscioli, Meredith Wilson, 2017, American journal of medical genetics. Part A.

Hypomorphic and dominant-negative impact of truncated SOX9 dysregulates Hedgehog–Wnt signaling, causing campomelia

R. Lovell-Badge, K. Yip, Sarah L Wynn, 2022, Proceedings of the National Academy of Sciences of the United States of America.

A Mouse Splice-Site Mutant and Individuals with Atypical Chromosome 22q11.2 Deletions Demonstrate the Crucial Role for Crkl in Craniofacial and Pharyngeal Development

Z. Stark, J. Bertram, P. Farlie, 2014, Molecular Syndromology.

Biallelic PMS2 mutations and a distinctive childhood cancer syndrome.

L. Lipton, M. Croxford, L. Orme, 2008, Journal of pediatric hematology/oncology.

The chromatin remodeler ISWI acts during Drosophila development to regulate adult sleep

S. Girirajan, M. Deardorff, Matthew Jensen, 2020, Science Advances.

Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children.

Z. Stark, S. Lunke, S. White, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

N. Brown, Z. Stark, R. Savarirayan, 2015, American journal of medical genetics. Part A.

Contents Vol. 7, 2016

M. Mussini, M. Poot, Siulan Vendramini-Pittoli, 2016, Molecular Syndromology.

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

P. Ekert, J. Jameson, M. Zacharin, 2006, American journal of medical genetics. Part A.

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

Melissa Martyn, Zornitza Stark, Deborah Schofield, 2018, Genetics in Medicine.

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

Natalie B Tan, D. Phelan, Z. Stark, 2018, Genetics in Medicine.

Registry- and Clinic-Based Analyses of Birth Defects and Syndromes Associated with Cleft Lip/Palate in Victoria, Australia

D. Amor, S. White, M. Riley, 2009, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

S. Lalani, U. Kini, B. Landis, 2023, European Journal of Human Genetics.

Insights on Sensitive Language Use in the Hong Kong Healthcare Setting: Perceptions of Parents and Caregivers of Patients Affected with Down Syndrome

W. Mok, B. Chung, T. Tan, 2017 .

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

A. Sinclair, P. Koopman, C. Simons, 2018, Sexual Development.

A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9

P. Lockhart, Z. Stark, G. McGillivray, 2017, American journal of medical genetics. Part A.

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

J. Gécz, A. Sinclair, C. Kimber, 2016, Genome Biology.

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.

N. de Leeuw, S. Twigg, A. Wilkie, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Supplementary Material for: Clinical and Molecular Characterisation of Children with Pierre Robin Sequence and Additional Anomalies

P. Farlie, A. Penington, N. Kilpatrick, 2016 .

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

C. Poulton, S. Lakhani, G. Chapman, 2024, The Journal of clinical investigation.

The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong Kong

Y. Lau, G. T. K. Mok, W. Tang, 2014, PloS one.

Title Comparative gene expression analysis of the human periodontal ligament in deciduous and permanent teeth

Y. Lau, G. T. K. Mok, W. Tang, 2014 .

Title The clinical impact of chromosomal microarray on paediatriccare in Hong Kong

Y. Lau, G. T. K. Mok, W. Tang, 2014 .

Rare syndromes of the head and face—Pierre Robin sequence

P. Farlie, T. Tan, Peter G. Farlie, 2013, Wiley interdisciplinary reviews. Developmental biology.

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

A. Bankier, G. McGillivray, I. Simpson, 2006, Clinical dysmorphology.

Clinical Report Prenatal Magnetic Resonance Imaging in Gomez-Lopez- Hernandez Syndrome and Review of the Literature

S. Goergen, G. McGillivray, S. White, 2005 .

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

N. Thorne, Z. Stark, S. Lunke, 2018, European Journal of Human Genetics.