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Meeting report of the 2017 KidGen Renal Genetics Symposium.
- Published in:
- Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0137-7
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- Publication type:
- Article
Use of ultra‐rapid whole‐exome sequencing to diagnose congenital central hypoventilation syndrome.
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- Pediatric Pulmonology, 2020, v. 55, n. 4, p. 855, doi. 10.1002/ppul.24686
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- Publication type:
- Article
Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 1, p. 50, doi. 10.1159/000505886
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- Publication type:
- Article
Genetic counseling in pediatric acute care: Reflections on ultra‐rapid genomic diagnoses in neonates.
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- Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 273, doi. 10.1002/jgc4.1086
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- Publication type:
- Article
Osteopetrosis.
- Published in:
- 2009
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- Publication type:
- journal article
Osteopetrosis.
- Published in:
- Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-5
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- Publication type:
- Article
IREB2-associated neurodegeneration.
- Published in:
- 2019
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- Publication type:
- Letter
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
- Published in:
- 2017
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- Publication type:
- journal article
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
- Published in:
- 2022
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- Publication type:
- Case Study
Australian public perspectives on genomic newborn screening: which conditions should be included?
- Published in:
- Human Genomics, 2024, v. 18, p. 1, doi. 10.1186/s40246-024-00611-x
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- Publication type:
- Article
Determining the utility of diagnostic genomics: a conceptual framework.
- Published in:
- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00524-1
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- Publication type:
- Article
The application of long-read sequencing in clinical settings.
- Published in:
- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00522-3
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- Publication type:
- Article
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1508
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- Publication type:
- Article
A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient.
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- Australasian Journal of Dermatology, 2011, v. 52, n. 1, p. 48, doi. 10.1111/j.1440-0960.2010.00662.x
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- Publication type:
- Article
Current Practice and Attitudes of Australian Obstetricians Toward Population-Based Carrier Screening for Inherited Conditions.
- Published in:
- Twin Research & Human Genetics, 2013, v. 16, n. 2, p. 601, doi. 10.1017/thg.2012.152
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- Publication type:
- Article
Molecular and Clinical Characterization of 25 Individuals With Exonic Deletions of NRXN1 and Comprehensive Review of the Literature.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 4, p. 388, doi. 10.1002/ajmg.b.32148
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- Publication type:
- Article
Discussing withdrawing and withholding of life-sustaining medical treatment in a tertiary paediatric hospital: A survey of clinician attitudes and practices.
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- Journal of Paediatrics & Child Health, 2008, v. 44, n. 7/8, p. 392, doi. 10.1111/j.1440-1754.2008.01351.x
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- Publication type:
- Article
Discussing withholding and withdrawing of life-sustaining medical treatment in paediatric inpatients: Audit of current practice.
- Published in:
- Journal of Paediatrics & Child Health, 2008, v. 44, n. 7/8, p. 399, doi. 10.1111/j.1440-1754.2008.01352.x
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- Publication type:
- Article
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3432, doi. 10.1002/ajmg.a.62950
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- Publication type:
- Article
Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 75, doi. 10.1002/ajmg.a.38516
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- Publication type:
- Article
De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3003, doi. 10.1002/ajmg.a.38492
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- Publication type:
- Article
KBG syndrome: An Australian experience.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1866, doi. 10.1002/ajmg.a.38121
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- Publication type:
- Article
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 820, doi. 10.1002/ajmg.a.38076
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- Publication type:
- Article
Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 773, doi. 10.1002/ajmg.a.37501
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- Publication type:
- Article
Severe connective tissue laxity including aortic dilatation in Sotos syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 531, doi. 10.1002/ajmg.a.37402
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- Publication type:
- Article
Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2685, doi. 10.1002/ajmg.a.37155
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- Publication type:
- Article
Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2485, doi. 10.1002/ajmg.a.37163
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- Publication type:
- Article
SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2319, doi. 10.1002/ajmg.a.37177
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- Publication type:
- Article
Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 394, doi. 10.1002/ajmg.a.36838
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- Publication type:
- Article
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 77, doi. 10.1002/ajmg.a.36203
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- Publication type:
- Article
5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2604, doi. 10.1002/ajmg.a.36108
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- Publication type:
- Article
Methyl‐CpG binding domain 4, DNA glycosylase (MBD4)‐associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype.
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- British Journal of Haematology, 2022, v. 198, n. 1, p. 196, doi. 10.1111/bjh.18178
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- Publication type:
- Article
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.
- Published in:
- Scientific Reports, 2016, p. 28253, doi. 10.1038/srep28253
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- Publication type:
- Article
Drugs, genes and screens: The ethics of preventing and treating spinal muscular atrophy.
- Published in:
- Bioethics, 2020, v. 34, n. 5, p. 493, doi. 10.1111/bioe.12695
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- Publication type:
- Article
Eliciting parental preferences and values for the return of additional findings from genomic sequencing.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00399-8
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- Publication type:
- Article
Co-design, implementation, and evaluation of plain language genomic test reports.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00332-x
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- Publication type:
- Article
Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-020-00168-3
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- Publication type:
- Article
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.
- Published in:
- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0053-8
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- Publication type:
- Article
Implementation of reimbursement for genomic testing in Australia: early successes and the pathway ahead.
- Published in:
- 2024
- By:
- Publication type:
- Editorial
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 224, doi. 10.1038/ejhg.2014.61
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- Publication type:
- Article
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 753, doi. 10.1038/ejhg.2011.11
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- Publication type:
- Article
Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre‐conception carrier screening.
- Published in:
- Journal of Paediatrics & Child Health, 2022, v. 58, n. 5, p. 758, doi. 10.1111/jpc.15955
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- Publication type:
- Article
Treatment limitation and advance planning: Hospital-wide audit of paediatric death.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Rare cause of maternal and neonatal hypercalcaemia.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance.
- Published in:
- Life Science Alliance, 2023, v. 6, n. 4, p. 1, doi. 10.26508/lsa.202201877
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- Publication type:
- Article
Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 3, p. 240, doi. 10.1002/jmd2.12280
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- Publication type:
- Article
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
- Published in:
- JAMA Neurology, 2022, v. 79, n. 4, p. 405, doi. 10.1001/jamaneurol.2022.0067
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- Publication type:
- Article
The role of exome sequencing in childhood interstitial or diffuse lung disease.
- Published in:
- 2022
- By:
- Publication type:
- journal article
More Than a Decade of Rapid Genomic Sequencing: Where Are We Now?
- Published in:
- Clinical Chemistry, 2024, v. 70, n. 4, p. 577, doi. 10.1093/clinchem/hvae025
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- Publication type:
- Article