A5053774512- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Bone health and treatments
- Genetic Syndromes and Imprinting
- Neonatal Respiratory Health Research
- RNA modifications and cancer
- Connective tissue disorders research
- Erythrocyte Function and Pathophysiology
- Congenital Heart Disease Studies
- Blood groups and transfusion
- Cancer-related gene regulation
- Genomic variations and chromosomal abnormalities
- Cystic Fibrosis Research Advances
- Immunodeficiency and Autoimmune Disorders
- Pelvic and Acetabular Injuries
- Congenital heart defects research
- Context-Aware Activity Recognition Systems
- Congenital limb and hand anomalies
- Biomedical Ethics and Regulation
- Hedgehog Signaling Pathway Studies
- Cytomegalovirus and herpesvirus research
- Inflammatory Bowel Disease
- Maternal and Perinatal Health Interventions
- Prenatal Screening and Diagnostics
- Wnt/β-catenin signaling in development and cancer
University of Oxford
2023-2024
Nuffield Orthopaedic Centre
2024
Oxford University Hospitals NHS Trust
2022-2023
Tohoku University Hospital
2023
Children's Health Ireland at Crumlin
2019-2021
Our Lady's Hospital
2018-2019
Central Institute for Experimental Animals
2010
Iran University of Medical Sciences
2010
Nagoya City University
2010
National Maternity Hospital
2008
PurposeThe variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood.MethodsGenetic clinical details new published individuals with pathogenic KDM6A variants were compiled analyzed.ResultsSixty-one distinct (50 truncating, 11 missense) from 80 patients (34 males, 46 females) identified. Missense clustered in TRP 2, 3, 7 Jmj-C domains. Truncating significantly more likely to be de novo. Thirteen had maternally inherited one a paternally variant....
The 2017 classification of Ehlers-Danlos syndromes (EDS) identifies three types associated with causative variants in COL1A1/COL1A2 and distinct from osteogenesis imperfecta (OI). Previously, patients have been described variable features both disorders, COL1A1/COL1A2; but this phenotype has not included the current classification. Here, we expand re-define OI/EDS overlap as a missing EDS type. Twenty-one individuals 13 families were reported, whom found after suspicion EDS. None them could...
Although haploinsufficiency of ANKRD11 is among the most common genetic causes neurodevelopmental disorders, role rare missense variation remains unclear. We characterized clinical, molecular, and functional spectra variants.
The collection of patient-generated health data (PGHD) is important for understanding a patient's daily status efficient treatment. Mobile applications are effective continuously collecting patient data, and it desirable to promptly integrate such into electronic medical records. However, most hospital information systems have limited connections with external mobile applications. Therefore, in this study, we developed simple system that can collect from patients inflammatory bowel disease...
Congenital heart disease (CHD) describes a structural cardiac defect present from birth. A cohort of participants recruited to the 100,000 Genomes Project (100 kGP) with syndromic CHD (286 probands) and familial (262 were identified. "Tiering" following genome sequencing data analysis prioritised variants in gene panels linked participant phenotype. To improve diagnostic rates cohorts, we implemented an agnostic de novo Gene Discovery Pipeline (GDP). We assessed (DNV) for unsolved filtering...
We describe an X-linked syndrome in 13 male patients from a single family with three generations affected. Patients presented prenatally or during the neonatal period intrauterine growth retardation, ventriculomegaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and severe neurodevelopmental delay. The disease is typically fatal infancy, mainly due to sepsis (pneumonias). Female carriers are asymptomatic. performed genome sequencing four individuals identified unique...
Abstract Intellectual disability (ID) is one of most frequent reasons for genetic consultation. The complex molecular anatomy ID ranges from complete chromosomal imbalances to single nucleotide variant changes occurring de novo, with thousands genes identified. This extreme heterogeneity challenges the diagnosis, which mostly requires a genomic approach. CXorf56 largely uncharacterized and was recently proposed as candidate gene based on findings in Dutch family. Here, we describe nine cases...
Abstract We report clinical and radiological features of a patient born with an isolated skull malformation caput membranaceum partial bicoronal craniosynostosis novel, de novo heterozygous missense variant in ZIC1 [NM_003412.3:c.1183C>G, p.(Pro395Ala)]. Caput membranaceum, or boneless skull, is rare manifestation ossification defect. It can result from isolated, enlarged parietal foramina it present as part skeletal dysplasia syndromes associated poor mineralization such...
Metabolic syndrome is a major risk factor of cardiovascular events.Obese visceral adipose tissue remodeling and malfunctioning based on chronic inflammation local immunological changes plays central role.To assess dynamic interplay between multiple cell-types in obese adipose, visualization technique vivo was therefore developed to reveal the underlying multi-cellular molecular mechanisms obesity.In imaging revealed close spatial temporal interrelationships angiogenesis adipogenesis...
Sasaki, Erina; Phelan, Ethna; Brenner, Clare; Brosnahan, Donal; Reardon, William Author Information
<h3>Background</h3> Cystic Fibrosis (CF) is the most common life threatening autosomal recessive multisystem disease in Republic of Ireland (ROI); with a previously quoted incidence 1 1353 and carrier rate 19. Screening for CF was incorporated National new born screening (NBS) programme July 2011 ROI. The benefit early diagnosis well documented. purpose to identify classic cases allow intervention improve prognosis. A cut off point top 1% Immunoreactive Trypsinogen (IRT) taken as an...
A patient was referred in consequence of an abnormal microarray finding. The background history Left Congenital Diaphragmatic hernia, coarctation Aorta and PDA. Examined at 5 weeks by Consultant Clinical Geneticist, she non-dysmorphic, her head circumference on 25<sup>th</sup> percentile. Neurological examination age appropriate. ACGH showed a mosaic chromosomal imbalance involving chromosome 2q the form ∼46.7Mb gain 2q26.1–q31.2 ∼17.6Mb loss 2q36.2–qter, which estimated to be present...
Abstract Purpose Although haploinsufficiency of ANKRD11 is among the most common genetic causes neurodevelopmental disorders, role rare missense variation remains unclear. We characterized clinical, molecular and functional spectra variants. Methods collected clinical information individuals with variants evaluated phenotypic fit to KBG syndrome. assessed pathogenicity by in silico analyses cell-based experiments. Results identified 29 (mostly de novo ) variants, who presented syndromic...