D. Phelan

发表

Insights into the genotype‐phenotype correlation and molecular function of SLC25A46

I. Campeanu, Alexander J Abrams, F. Fontanesi, 2018, Human mutation.

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

P. Lockhart, S. Haas, K. Hogan, 2014, American 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.

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.

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.

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.

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.

Exome sequencing in infants with congenital hearing impairment: a population-based cohort study

H. Rehm, M. Wake, D. Phelan, 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.

Ethylmalonic encephalopathy masquerading as meningococcemia

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

Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing

T. Dudding-Byth, D. Phelan, M. Field, 2019, International journal of molecular sciences.

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

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

Are you collecting all the available DNA from touched objects

D. Phelan, R. V. van Oorschot, R. V. Oorschot, 2003 .

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.

The effects of gold-containing compounds on pregnant rabbits and their fetuses.

D. Phelan, K. Szabo, M. E. DiFebbo, 1978, Veterinary pathology.

High-performance liquid chromatographic assay of bromocriptine in rat plasma and brain.

N. Greig, D. Phelan, T. T. Soncrant, 1990, Journal of chromatography.

The identification and characterisation of novel genes associated with cardiomyopathy

D. Phelan, 2017 .

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.

Genetics of Complex Diseases The genetics of cardiomyopathy, new technologies and the path to personalised medicine

P. Lockhart, D. Phelan, P. James, 2013 .

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.

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

R. Pfundt, P. Lockhart, S. Mundlos, 2019, American journal of human 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.

NKX2-5 regulates human cardiomyogenesis via a HEY2 dependent transcriptional network

Mauro W. Costa, R. Passier, C. Mummery, 2018, Nature Communications.

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.

Brugada Syndrome Caused by a Large Deletion in SCN5A Only Detected by Multiplex Ligation‐Dependent Probe Amplification

D. Phelan, A. Davis, P. James, 2011, Journal of cardiovascular electrophysiology.

NKX2-5 regulates human cardiomyogenesis via a HEY2 dependent transcriptional network

Mauro W. Costa, R. Passier, C. Mummery, 2018, Nature Communications.

ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.

P. Lockhart, E. Stanley, D. Elliott, 2016, European heart journal.

Detection of mutations in genes associated with hearing loss using a microarray-based approach.

D. Phelan, K. Siemering, H. Dahl, 2006, The Journal of molecular diagnostics : JMD.

Intellectual Disability and Early-Onset Parkinson Disease with a-Synuclein Pathology

P. Lockhart, S. Haas, K. Hogan, 2014 .

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.

Michael A. Burke, N. Brown, P. Lockhart, 2020, American heart journal.

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

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

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

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