Anne Ronan
A5006644013- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Genetic Syndromes and Imprinting
- Cardiomyopathy and Myosin Studies
- Hormonal and reproductive studies
- Epigenetics and DNA Methylation
- Asthma and respiratory diseases
- Cardiovascular Effects of Exercise
- Prenatal Screening and Diagnostics
- Diet and metabolism studies
- Pharmacological Effects and Assays
- Down syndrome and intellectual disability research
- RNA modifications and cancer
- RNA and protein synthesis mechanisms
- RNA Research and Splicing
- Mitochondrial Function and Pathology
- Toxic Organic Pollutants Impact
- Genomics and Chromatin Dynamics
- Genetic Neurodegenerative Diseases
- Regulation of Appetite and Obesity
- Hedgehog Signaling Pathway Studies
- BRCA gene mutations in cancer
- Genetic and rare skin diseases.
University of Newcastle Australia
1999-2025
Hunter Medical Research Institute
2024
Hunter Genetics
2011-2022
Hunter New England Local Health District
2017-2022
Filadelfia
2021
University of Southern Denmark
2021
Maastricht University
2021
Kempenhaeghe
2021
New York University
2016-2020
South Australia Pathology
2011
Abstract Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome (WES); however, additional diagnostic yields and costs remain undefined. We investigated differences between cost outcomes of WGS WES in a cohort with suspected disorders. was performed 38 WES-negative families derived from 64 family that previously underwent WES. For new diagnoses, contemporary reanalysis determined whether variants were diagnosable by original or unique to WGS. Diagnostic rates...
The cerebellar ataxias (CAs) are a heterogeneous group of disorders characterized by progressive incoordination. Seventeen repeat expansion (RE) loci have been identified as the primary genetic cause and account for >80% diagnoses. Despite this, diagnostic testing is limited inefficient, often utilizing single gene assays. This study evaluates effectiveness long- short-read sequencing tools CA. We recruited 110 individuals (48 females, 62 males) with clinical diagnosis Short-read genome...
Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development malignancy. YY1 acts both as repressor an activator of gene expression. We have identified 23 individuals de novo mutations or deletions phenotypic features that define syndrome cognitive impairment, behavioral alterations, intrauterine growth restriction, feeding problems, various congenital malformations. Our combined clinical molecular data "YY1 syndrome" haploinsufficiency...
<h3>Abstract</h3> <b>Objective</b>: To determine the cause of a large increase in number children with unexplained renal failure. <b>Design</b>: Case-control study. <b>Setting</b>: Children9s hospital Dhaka, Bangladesh. <b>Subjects</b>: Cases were all 339 initially failure; controls 90 failure identified; admitted to during 35 months after January 1990. <b>Main outcome measures</b>: Differences between case and control patients clinical histological features outcome; toxicological...
We reviewed cerebrospinal fluid (CSF) shunt infections treated in the Royal Children's Hospital, Melbourne from 1981 to 1991. Forty-one episodes of CSF infection were found after 900 operations, an rate 4.5%. Clinical symptoms nonspecific 31.7% episodes, and 17.1% initial sample was normal on microscopy biochemistry, although a pathogen isolated culture. Most occurred within 4 months last operation shunt, exception being caused by Haemophilus influenzae. Four patients died during treatment,...
<h3>Background</h3> Joubert syndrome (JS) is a ciliopathy characterised by distinctive brain malformation (the 'molar tooth sign'), developmental delay, abnormal eye movements and breathing pattern. Retinal dystrophy, cystic kidney disease, liver fibrosis polydactyly are variably present, resulting in significant phenotypic heterogeneity overlap with other ciliopathies. JS also genetically heterogeneous, from mutations 13 genes. These factors render clinical/molecular diagnosis management...
The causes of cardiomyopathy in children are less well described than adults. We evaluated the clinical diagnoses and genetic childhood outcomes cascade testing family members.We recruited from a pediatric cardiology service or heart diseases clinic. performed Sanger, gene panel, exome genome sequencing classified variants for pathogenicity using American College Molecular Genetics Genomics guidelines.Cardiomyopathy was diagnosed 221 unrelated aged ≤18 years. Children mostly had hypertrophic...
Chromatin is essentially an array of nucleosomes, each which consists the DNA double-stranded fiber wrapped around a histone octamer. This organization supports cellular processes such as replication, transcription, and repair in all eukaryotes. Human H4 encoded by fourteen canonical genes, differing at nucleotide level but encoding invariant protein. Here, we present cohort 29 subjects with de novo missense variants six genes (H4C3, H4C4, H4C5, H4C6, H4C9, H4C11) identified whole-exome...
<h3>Background</h3> Pseudohypoparathyroidism type Ib (PHP-Ib) is due to epigenetic changes at the imprinted <i>GNAS</i> locus, including loss of methylation A/B differentially methylated region (DMR) and sometimes XL AS DMRs gain NESP DMR. <h3>Objective</h3> To investigate if quantitative measurement identifies subtypes PHP-Ib. <h3>Design methods</h3> In 19 patients with PHP-Ib 7 controls, was characterised four through combined bisulfite restriction analysis quantified cytosine specific...
Abstract Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, POLR3K. The endocrine growth abnormalities associated with this have not been thoroughly investigated to date. Objective To systematically characterize of patients leukodystrophy. Design An international cross-sectional study was performed on 150...
Purine-rich element-binding protein A (PURA) gene encodes Pur-α, a conserved essential for normal postnatal brain development. Recently, PURA syndrome characterized by intellectual disability, hypotonia, epilepsy, and dysmorphic features was suggested. The aim of this study to define expand the phenotypic spectrum collecting data, including EEG, from large cohort affected patients. Data on unpublished published cases were collected through Syndrome Foundation literature. clinical, genetic,...
Two unrelated families were ascertained in which sisters had infantile onset of epilepsy and developmental delay. Mutations the protocadherin 19 (PCDH19) gene cause mental retardation limited to females (EFMR). Despite both sister pairs having a PCDH19 mutation, neither parent each family was heterozygous carrier mutation. The possibility parental mosaicism mutations investigated.Genomic DNA from peripheral blood obtained sequenced for mutations. Parentage confirmed by markers.Both have...
ABSTRACT The underrepresentation of different ancestry groups in large genomic datasets creates difficulties interpreting the pathogenicity monogenic variants. Genetic testing for individuals with non-European results higher rates uncertain variants and a greater risk misclassification. We report rare variant cardiac troponin T gene, TNNT2 ; NM_001001430.3: c.571-1G>A (rs483352835) identified via research-based whole exome sequencing two unrelated probands Oceanian phenotypes. disrupts...
Journal Article Effect of D,L-2-difluoromethylornithine and endocrine manipulation on the induction mammary carcinogenesis by 1-methyl-1-nitrosourea Get access Henry J. Thompson, Thompson 1 Department Animal Nutritional Sciences, University New HampshireDurham, NH 03824, USA To whom reprint request should be sent at Human Nutrition Center, Colovos Road, Hampshire, Durham, Search for other works this author on: Oxford Academic PubMed Google Scholar Anne M. Ronan Carcinogenesis, Volume 7,...