B. Chong

发表

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.

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.

Patient safety in genomic medicine: an exploratory study

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

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective

P. Kwan, Z. Ademi, S. Berkovic, 2020, Journal of the Neurological Sciences.

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.

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.

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.

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.

Hierarchical mutation screening protocol for the BRCA1 gene

A. Shelling, M. Hegde, I. Winship, 2000, Human mutation.

A Homozygous Mutation in MSH6 Causes Turcot Syndrome

C. Richards, M. Hegde, P. Ward, 2005, Clinical Cancer Research.

Ethylmalonic encephalopathy masquerading as meningococcemia

S. Goergen, J. Christodoulou, D. Phelan, 2022, Cold Spring Harbor molecular case studies.

Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography.

C. Richards, M. Hegde, L. Su, 2001, Genetic testing.

Population screening and cascade testing for carriers of SMA

B. Chong, S. Cowie, V. Calabro, 2007, European Journal of Human Genetics.

Use of the newborn screening card to define cause of death in a 12‐year‐old diagnosed with epilepsy

J. Skinner, M. Hegde, B. Chong, 2004, Journal of paediatrics and child health.

Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification

S. Warren, M. Hegde, H. Peters, 2001, Journal of medical genetics.

Compound heterozygosity at the FMR1 gene.

M. Hegde, J. Mcgaughran, D. Love, 2001, Genetic testing.

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Kenneth D. Doig, K. Friend, J. Pearson, 2022, American journal of human genetics.

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.

D. Phelan, Z. Stark, L. Coleman, 2017, Seminars in pediatric neurology.

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.

Evaluating the resource implications of different service delivery models for offering additional genomic findings

Melissa Martyn, Clara Gaff, Koen Degeling, 2020, Genetics in Medicine.

Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.

M. Hegde, S. Khadilkar, D. Love, 2009, Neurology India.

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.

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.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

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

A comprehensive evaluation of myocardial fibrosis in hypertrophic cardiomyopathy with cardiac magnetic resonance imaging: linking genotype with fibrotic phenotype.

L. Ling, P. James, D. Kaye, 2014, European heart journal cardiovascular Imaging.

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

Monique M. Ryan, Alicia Oshlack, Peter Georgeson, 2017, Annals of clinical and translational neurology.

Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report

D. Francis, R. Heard, H. Slater, 2016, American journal of medical genetics. Part A.

Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions

N. Brown, A. Kornberg, Z. Stark, 2014, American journal of medical genetics. Part A.

Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies

N. Brown, H. Hakonarson, Yiran Guo, 2022, JIMD reports.

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.

Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.

J. Kanis, M. Hegde, B. Tüysüz, 2003, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Idiopathic Hyperphosphatasia and TNFRSF11B Mutations: Relationships Between Phenotype and Genotype

J. Kanis, M. Hegde, B. Tüysüz, 2003, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6.

C. Richards, M. Hegde, T. Prior, 2005, The Journal of molecular diagnostics : JMD.

A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype.

I. Reid, M. Hegde, J. Mulley, 2002, Human molecular genetics.

Spectrum of mutations in sarcoglycan genes in Mumbai , India : High prevalence of 525 del T

M. Hegde, S. Khadilkar, D. Love, 2022 .

Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy

D. Phelan, P. James, M. Chetrit, 2020, Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease.

SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis

F. Baas, M. Delatycki, M. Jakobs, 2010, Clinical genetics.

AHomozygousMutation in MSH 6 CausesTurcot Syndrome

C. Richards, M. Hegde, P. Ward, 2005 .

Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol

Y. Bombard, Z. Stark, M. Delatycki, 2023, BMJ Open.

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

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

D.O.2 Microarray testing for developmental delay reveals an expanded clinical spectrum of dystrophinopathies

N. Laing, N. Clarke, M. Ryan, 2012, Neuromuscular Disorders.

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

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

SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis

F. Baas, M. Delatycki, M. Jakobs, 2010, Clinical genetics.

Idiopathic Hyperphosphatasia and TNFRSF11B Mutations: Relationships Between Phenotype and Genotype

J. Kanis, M. Hegde, B. Tüysüz, 2003, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.