Bernadette Hanna
A5024375182- Genomics and Rare Diseases
- RNA Research and Splicing
- Cardiomyopathy and Myosin Studies
- RNA modifications and cancer
- Congenital limb and hand anomalies
- Spacecraft and Cryogenic Technologies
- Soft tissue tumor case studies
- Cardiac Valve Diseases and Treatments
- Glycosylation and Glycoproteins Research
- Skin and Cellular Biology Research
- Sarcoma Diagnosis and Treatment
- Oral and Maxillofacial Pathology
- Metabolism and Genetic Disorders
- Developmental Biology and Gene Regulation
- Connective tissue disorders research
- Glycogen Storage Diseases and Myoclonus
- Nuclear Structure and Function
- Cellular transport and secretion
- Tracheal and airway disorders
- Superconducting Materials and Applications
- Particle accelerators and beam dynamics
- Genetic Neurodegenerative Diseases
- Neurological disorders and treatments
- Mitochondrial Function and Pathology
- Protease and Inhibitor Mechanisms
Fermi National Accelerator Laboratory
2024
Westmead Hospital
2019-2022
Children's Hospital at Westmead
2021
Hunter Genetics
2016-2019
John Hunter Hospital
2016-2019
Hunter New England Local Health District
2017
Background Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea dystonia; autosomal-dominant benign hereditary chorea. We provide detailed clinical data on 7 patients from six new kindreds in the ADCY5 gene, order to expand define phenotypic spectrum of mutations. Methods In patients, followed over a period 9 32 years, was sequenced by Sanger sequencing. The other 2 unrelated participated studies for...
Congenital heart disease (CHD) is the most common birth defect and brings with it significant mortality morbidity. The application of exome genome sequencing has greatly improved rate genetic diagnosis for CHD but cause in majority cases remains uncertain. It clear that genetics, as well environmental influences, play roles aetiology CHD. Here we address both these aspects causation respect to Notch signalling pathway. In our cohort, variants core pathway genes account 20% those disease, a...
The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics resolve variants uncertain significance (VUS) in clinical management patients families with cardiomyopathies, primary arrhythmias, congenital heart disease (CHD).
The Proton Improvement Plan (PIP)-II project is part of Fermilab's upgrade its proton accelerator complex, to provide a powerful, high-intensity beam the laboratory's upcoming research program. includes an 800 MeV superconducting (SC) linear (linac), with five flavours cavities and cryomodules. medium energy section linac contains two types Single Spoke Resonator (SSR) RF (SSR1 SSR2), which are interleaved strong solenoid focusing lenses. A unified design has been developed, one satisfying...