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Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.
- Published in:
- Clinical Epigenetics, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13148-018-0546-4
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- Publication type:
- Article
Epigenome-wide analysis in newborn blood spots from monozygotic twins discordant for cerebral palsy reveals consistent regional differences in DNA methylation.
- Published in:
- Clinical Epigenetics, 2018, v. 10, p. 1, doi. 10.1186/s13148-018-0457-4
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- Publication type:
- Article
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 43, doi. 10.1186/1750-1172-9-43
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- Publication type:
- Article
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
- Published in:
- 2014
- By:
- Publication type:
- journal article
IREB2-associated neurodegeneration.
- Published in:
- 2019
- By:
- Publication type:
- Letter
DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 20, p. 7735, doi. 10.3390/ijms21207735
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- Publication type:
- Article
Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 16, p. 3907, doi. 10.3390/ijms20163907
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- Publication type:
- Article
Perinatal outcomes after a prenatal diagnosis of a fetal copy number variant: a retrospective population-based cohort study.
- Published in:
- BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-024-05012-6
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- Publication type:
- Article
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 11, p. 2020, doi. 10.3390/jcm8112020
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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
Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders.
- Published in:
- Translational Psychiatry, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41398-020-01034-7
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- Publication type:
- Article
Speech and language in DDX3X‐neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2024, v. 195, n. 6, p. 1, doi. 10.1002/ajmg.b.32971
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- Publication type:
- Article
Characterization of speech and language phenotype in children with NRXN1 deletions.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 8, p. 700, doi. 10.1002/ajmg.b.32664
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- Publication type:
- Article
Future of whole genome sequencing.
- Published in:
- Journal of Paediatrics & Child Health, 2015, v. 51, n. 3, p. 251, doi. 10.1111/jpc.12634
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- Publication type:
- Article
Implementation of written consent for newborn screening in Victoria, Australia.
- Published in:
- Journal of Paediatrics & Child Health, 2014, v. 50, n. 5, p. 399, doi. 10.1111/jpc.12484
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- Publication type:
- Article
Considerations for Reporting Genome Results to Patients.
- Published in:
- Journal of Paediatrics & Child Health, 2013, v. 49, n. 1, p. 82, doi. 10.1111/jpc.12046
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- Publication type:
- Article
Recurrence risk in Autism Spectrum Disorder: A study of parental knowledge.
- Published in:
- Journal of Paediatrics & Child Health, 2007, v. 43, n. 11, p. 752, doi. 10.1111/j.1440-1754.2007.01156.x
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- Publication type:
- Article
Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice.
- Published in:
- 2006
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- Publication type:
- journal article
Tumour surveillance in Beckwith–Wiedemann syndrome and hemihyperplasia: A critical review of the evidence and suggested guidelines for local practice.
- Published in:
- Journal of Paediatrics & Child Health, 2006, v. 42, n. 9, p. 486, doi. 10.1111/j.1440-1754.2006.00908.x
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- Publication type:
- Article
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63559
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- Publication type:
- Article
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 357, doi. 10.1002/ajmg.a.63027
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- Publication type:
- Article
Speech and language development and genotype–phenotype correlation in 49 individuals with KAT6A syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3389, doi. 10.1002/ajmg.a.62899
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- Publication type:
- Article
Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 304, doi. 10.1002/ajmg.a.62500
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- Publication type:
- Article
Personal utility of genomic sequencing for infants with congenital deafness.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3634, doi. 10.1002/ajmg.a.62411
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- Publication type:
- Article
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2941, doi. 10.1002/ajmg.a.62377
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- Publication type:
- Article
Lymphedema distichiasis syndrome may be caused by FOXC2 promoter‐enhancer dissociation and disruption of a topological associated domain.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 150, doi. 10.1002/ajmg.a.61935
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- Publication type:
- Article
HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2049, doi. 10.1002/ajmg.a.61321
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- Publication type:
- Article
The novel <italic>RAF1</italic> 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.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 470, doi. 10.1002/ajmg.a.38569
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- Publication type:
- Article
'I'm Healthy, It's Not Going To Be Me': Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in Australia.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2052, doi. 10.1002/ajmg.a.37697
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- Publication type:
- Article
Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1363, doi. 10.1002/ajmg.a.37548
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- Publication type:
- Article
Clinical Comparison of Overlapping Deletions of 19p13.3.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1110, doi. 10.1002/ajmg.a.35923
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- Publication type:
- Article
Dominant missense mutations in ABCC9 cause Cantú syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 7, p. 793, doi. 10.1038/ng.2324
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- Publication type:
- Article
Mutations in TRPV4 cause an inherited arthropathy of hands and feet.
- Published in:
- Nature Genetics, 2011, v. 43, n. 11, p. 1142, doi. 10.1038/ng.945
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- Publication type:
- Article
Registry- and Clinic-Based Analyses of Birth Defects and Syndromes Associated With Cleft Lip/Palate in Victoria, Australia.
- Published in:
- Cleft Palate Craniofacial Journal, 2009, v. 46, n. 6, p. 583, doi. 10.1597/07-241.1
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- Publication type:
- Article
A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33.
- Published in:
- PLoS ONE, 2010, v. 5, n. 8, p. 1, doi. 10.1371/journal.pone.0012462
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- Publication type:
- Article
Epigenetics of fragile X syndrome and fragile X-related disorders.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Assisted reproductive technologies are associated with limited epigenetic variation at birth that largely resolves by adulthood.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-11929-9
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- Publication type:
- Article
The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia.
- Published in:
- Journal of Autism & Developmental Disorders, 2023, v. 53, n. 4, p. 1682, doi. 10.1007/s10803-021-05193-4
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- Publication type:
- Article
Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes.
- Published in:
- Journal of Neurodevelopmental Disorders, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s11689-018-9242-0
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- Publication type:
- Article
Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findings.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1225, doi. 10.1038/ejhg.2014.11
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- Publication type:
- Article
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1002, doi. 10.1038/ejhg.2013.258
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- Publication type:
- Article
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 741, doi. 10.1038/ejhg.2013.229
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- Publication type:
- Article
An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 825, doi. 10.1038/ejhg.2012.13
- By:
- Publication type:
- Article
Questionable pathogenicity of FOXG1 duplication.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 595, doi. 10.1038/ejhg.2011.267
- By:
- Publication type:
- Article
Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1084, doi. 10.1038/ejhg.2010.78
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- Publication type:
- Article
Imprinting, Small Babies and Assisted Reproduction: Genomic imprinting, small babies and assisted reproduction.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 1, doi. 10.1038/ejhg.2008.199
- By:
- Publication type:
- Article
Intellectual disability: A potentially treatable condition.
- Published in:
- Journal of Paediatrics & Child Health, 2024, v. 60, n. 7, p. 273, doi. 10.1111/jpc.16598
- By:
- Publication type:
- Article
Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Childhood Hearing Australasian Medical Professionals network: Consensus guidelines on investigation and clinical management of childhood hearing loss.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Investigating the child with intellectual disability.
- Published in:
- 2018
- By:
- Publication type:
- journal article