Gareth Baynam
A5089939981- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Biomedical Text Mining and Ontologies
- Genetics and Neurodevelopmental Disorders
- Ethics in Clinical Research
- BRCA gene mutations in cancer
- Cystic Fibrosis Research Advances
- Cancer Genomics and Diagnostics
- Health Systems, Economic Evaluations, Quality of Life
- Craniofacial Disorders and Treatments
- CRISPR and Genetic Engineering
- Prenatal Screening and Diagnostics
- RNA modifications and cancer
- RNA Research and Splicing
- Genetic Syndromes and Imprinting
- Epigenetics and DNA Methylation
- Neurogenetic and Muscular Disorders Research
- Connective tissue disorders research
- Cleft Lip and Palate Research
- Biomedical Ethics and Regulation
- Congenital Diaphragmatic Hernia Studies
- Dermatological and Skeletal Disorders
- Family and Disability Support Research
- Immunodeficiency and Autoimmune Disorders
- Autism Spectrum Disorder Research
The University of Western Australia
2016-2025
Princess Margaret Hospital for Children
2008-2025
King Edward Memorial Hospital
2016-2025
Government of Western Australia Department of Health
2016-2025
Perth Children's Hospital
2022-2025
The Kids Research Institute Australia
2015-2024
Curtin University
2017-2024
Government of Western Australia
2015-2024
The University of Notre Dame Australia
2020-2024
Aboriginal Health Council of South Australia
2024
Abstract The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard describe and computationally analyze phenotypic abnormalities found human disease. HPO is now worldwide for phenotype exchange. has grown steadily since its inception due considerable contributions from clinical experts researchers diverse range of disciplines. Here, we present recent major extensions the neurology, nephrology, immunology, pulmonology, newborn...
The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases—is used by thousands researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions clinical computable disease definitions have made HPO de facto standard for deep phenotyping in field rare disease. HPO's interoperability other ontologies has enabled it to be improve diagnostic accuracy incorporating model organism...
Provision of a molecularly confirmed diagnosis in timely manner for children and adults with rare genetic diseases shortens their "diagnostic odyssey," improves disease management, fosters counseling respect to recurrence risks while assuring reproductive choices. In general clinical genetics setting, the current diagnostic rate is approximately 50%, but those who do not receive molecular after initial evaluation, that much lower. Diagnostic success these more challenging affected...
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, large number families mapping to remained unresolved suggesting that more XLID or loci are yet be Here, we investigated 405 with XLID. We employed massively parallel sequencing all exons index males. The majority these males were previously tested negative for copy variations mutations subset known by...
Aneurysms affecting the aorta are a common condition associated with high mortality as result of aortic dissection or rupture. Investigations pathogenic mechanisms involved in syndromic types thoracic aneurysms, such Marfan and Loeys-Dietz syndromes, have revealed an important contribution disturbed transforming growth factor (TGF)-β signaling.This study sought to discover novel gene causing aneurysms order unravel underlying pathogenesis.We combined genome-wide linkage analysis, exome...
Human facial diversity is substantial, complex, and largely scientifically unexplained. We used spatially dense quasi-landmarks to measure face shape in population samples with mixed West African European ancestry from three locations (United States, Brazil, Cape Verde). Using bootstrapped response-based imputation modeling (BRIM), we uncover the relationships between variation effects of sex, genomic ancestry, a subset craniofacial candidate genes. The these variables are summarized as...
The Human Phenotype Ontology (HPO) is widely used in the rare disease community for differential diagnostics, phenotype-driven analysis of next-generation sequence-variation data, and translational research, but a comparable resource has not been available common disease. Here, we have developed concept-recognition procedure that analyzes frequencies HPO annotations as identified over five million PubMed abstracts by employing an iterative to optimize precision recall terms. We derived...
Overlapping clinical phenotypes and an expanding breadth complexity of genomic associations are a growing challenge in the diagnosis management Mendelian disorders. The functional consequences impacts variation may involve unique, disorder-specific, DNA methylation episignatures. In this study, we describe 19 novel episignature disorders compare findings alongside 38 previously established episignatures for total 57 associated with 65 genetic syndromes. We demonstrate increasing resolution...
Abstract The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference supporting genomic analyses through semantic similarity machine learning algorithms. HPO has widespread applications in clinical diagnostics translational research, including diagnostics, gene-disease discovery, cohort analytics. In recent years, groups around world have developed translations from English...
DICER1 is crucial for embryogenesis and early development. Forty different heterozygous germline mutations have been reported worldwide in 42 probands that developed as children or young adults, pleuropulmonary blastoma (PPB), cystic nephroma (CN), ovarian sex cord-stromal tumors (especially Sertoli-Leydig cell tumor [SLCT]), and/or multinodular goiter (MNG). We report seven additional families manifested uterine cervix embryonal rhabdomyosarcoma (cERMS, four cases) primitive neuroectodermal...
Kabuki syndrome (KS) is a rare but recognizable condition that consists of characteristic face, short stature, various organ malformations, and variable degree intellectual disability. Mutations in KMT2D have been identified as the main cause for KS, whereas mutations KDM6A are much less frequent cause. Here, we report mutation screening case series 347 unpublished patients, which 12 novel (KS type 2) 208 1), 132 them novel. Two were maternally inherited nine shown to be de novo. We give an...
Genomic imprinting results from the resistance of germline epigenetic marks to reprogramming in early embryo for a small number mammalian genes. Genetic, or environmental insults that prevent imprints evading may result disorders, which impact growth, development, behaviour and metabolism. We aimed identify genetic defects causing disorders by whole-exome sequencing families with one more members affected multilocus disturbance.Whole-exome was performed 38 pedigrees where probands had...
It has been argued that rare diseases should be recognized as a public health priority. However, there is shortage of epidemiological data describing the true burden diseases. This study investigated hospital service use to provide better understanding collective and economic impacts