A5084430941- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Cardiomyopathy and Myosin Studies
- Muscle Physiology and Disorders
- Congenital heart defects research
- Health disparities and outcomes
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Child and Adolescent Health
- Employment and Welfare Studies
- Cellular Mechanics and Interactions
- Innovations in Medical Education
- Cancer Genomics and Diagnostics
- Glycogen Storage Diseases and Myoclonus
- Radiology practices and education
- Global Health Care Issues
- Down syndrome and intellectual disability research
- Hematological disorders and diagnostics
- RNA and protein synthesis mechanisms
- Ion channel regulation and function
- Abdominal vascular conditions and treatments
- PI3K/AKT/mTOR signaling in cancer
- Gender Diversity and Inequality
- Literature Analysis and Criticism
- Actinomycetales infections and treatment
University College London
2002-2023
Great Ormond Street Hospital
2016-2023
Belfast Health and Social Care Trust
2022-2023
Nottingham University Hospitals NHS Trust
2023
Queen's Medical Centre
2023
Queen's University Belfast
2002-2022
Wessex Regional Genetics Laboratory
2021
Institute of Cancer Research
2021
University of Ulster
2019-2020
Belfast City Hospital
2019-2020
<b><i>Objective:</i></b> To clinically characterize affected individuals in families with paroxysmal kinesigenic dyskinesia (PKD), examine the association infantile convulsions, and confirm linkage to a pericentromeric chromosome 16 locus. <b><i>Background:</i></b> PKD is characterized by frequent, recurrent attacks of involuntary movement or posturing response sudden movement, stress, excitement. Recently, an autosomal dominant locus on was identified. <b><i>Methods:</i></b> The authors...
Lamins are the major component of nuclear lamina, maintaining structural integrity nucleus. Lamin A/C variants well established to cause a spectrum disorders ranging from myopathies progeria, termed laminopathies. Phenotypes resulting in LMNB1 and LMNB2 have been much less clearly defined.
Although assessment of performance will be central to revalidation, clinical governance and maintenance quality in the National Health Service, formal appraisal by a third party no more than an annual event for most medical staff. To fully effective doctors should assess their own frequently, but many lack training how do this. Self-assessment is also valuable exercise its right. Benefits include increased morale motivation as well improvements knowledge, communication performance1. This...
Abstract Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting reduced or complete loss-of-function (LOF) of encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype both males females. Through international clinical matchmaking interrogation public variant databases we assembled database 90 rare missense families: 41 unique 18 recurrent 49 families. For 43 families, including 22 33 females, collated detailed...
Young people in residential or foster care experience multiple transitions around their 18th birthday without the long term and consistent support from family of origin that most peers can expect. We report a mixed methods qualitative study across health social services for children leaving care, providing narratives what young described as positive, they professionals think might be improved.Data were collected participatory meetings individual interviews between researchers (n = 24) with...
ABSTRACT X‐linked sideroblastic anaemia (XLSA) is a rare hereditary disorder caused by mutations in the ALAS2 gene, essential for haem biosynthesis. We report two male siblings, first of whom developed severe microcytic hypochromic requiring regular transfusions, iron chelation and an allogeneic bone marrow transplant, while his brother displayed only mild indices without anaemia. Initial genetic screening did not identify pathogenic variant. However, duo exome sequencing later revealed...
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, musculoskeletal differences. RREB1 haploinsufficiency consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from single case report, phenotype intragenic variants unknown. Here we present cohort 6 individuals with truncating variants. Phenotypes include mild dysmorphisms, congenital heart disease,...
Self‐assessment is argued to be valuable educationally and being advocated through policies for wider adoption within medical practice. However, students are often reluctant self‐assess little research has examined the reasons this. This study explored perceptions of trainees postgraduates on assessment self‐assessment surgical skills. Data were collected semi‐structured interviews conducted with six postgraduate in Oral Surgery. They had previously been assessed, self‐assessed themselves...
Objective The objective of this study was to evaluate the presenting features bone and joint infections with a view identify distinguishing trends that will be useful for pediatric emergency departments. Methods We performed retrospective review patient records over 12-year period in department large regional teaching center serving diverse population. Results There were 88 cases osteoarticular during period. Pain, fever, impaired function commonly reported, but overall, there inconsistency...
The ABC and ACMG variant classification systems were compared by asking mainly European clinical laboratories to classify variants in 10 challenging cases using both systems, state if the question would be reported as a relevant result or not measure of utility. In contrast system, system was made guide reporting but determine likelihood pathogenicity. Nevertheless, this comparison is justified since class determines many laboratories. Forty-three participated survey. seven cases, used did...
Ariel is a mouse mutant that suffers from skeletal muscle myofibrillar degeneration due to the rapid accumulation of large intracellular protein aggregates. This fulminant disease caused by an ENU-induced recessive mutation resulting in L342Q change within motor domain myosin MYH4 (MyHC IIb). Although normal at birth, homozygous mice develop hindlimb paralysis Day 13, consistent with timing switch developmental adult isoforms mice. The mutated (MYH4(L342Q)) aggregate-prone protein....
During the recent "Great Recession," many families in United Kingdom experienced increased financial strain (FS). The aim of this study was to determine if increases FS, occurring over period were associated with risks persistent and relapsed tobacco use among parents.We analyzed Millennium Cohort Study, a longitudinal 18819 children born between 2000 2002. Surveys at 7 (T1, 2008) 11 years (T2, 2012) spanned Recession." Three measures FS defined; "became income poor" (self-reported household...
ABSTRACT Individuals with monoallelic pathogenic variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, impact of loss remains unclear. Here, we present a largely female cohort 11 individuals delays dysmorphic facial features. We found that include missense clustered catalytic domain, frameshift, stop-gain variants. demonstrate specific cause activity therefore sought to define effects decreased function. Using...
PurposeConditions and thresholds applied for evidence weighting of within-codon concordance (PM5) pathogenicity vary widely between laboratories expert groups. Because the sparseness available clinical classifications, there is little variation in practice.MethodsWe used as a truthset 7541 dichotomous functional classifications BRCA1 MSH2, spanning 311 codons 918 generated from large-scale assays that have been shown to correlate excellently with classifications. We assessed PM5 at 5...
Background There is a growing body of evidence associating financial strain (FS) with poor health but most this research has been cross-sectional and adult-focused. During the ‘Great Recession’ many UK households experienced increased FS. The primary aim study was to determine impact FS on child health. Methods We analysed Millennium Cohort Study, longitudinal children born in between 2000 2002. Surveys at 7 years (T1, 2008) 11 (T2, 2012) spanned Recession’. Three measures were defined;...
McKenna, Caoimhe S.a; Saxena, Niveditab; Dabir, Tabib Aa; Jones, Junea; Smith, Geoffa; Morrison, Patrick Ja,,cAuthor Information
Background: The UK 100,000 Genomes Project was a transformational research project which facilitated whole genome sequencing (WGS) diagnostics for rare diseases. We evaluated experiences of introducing WGS in Northern Ireland, providing recommendations future projects. Methods: This formative evaluation included (1) an appraisal the logistics implementing and delivering WGS, (2) survey participant self-reported views experiences, (3) semi-structured interviews with healthcare staff as key...
McKenna, Caoimhe; Vandersteen, Anthony; Wakeling, Emma; Pope, Francis M.; Ghali, Neeti Author Information
Key content In the presence of a fetal structural anomaly, DNA can be obtained through invasive testing (e.g. amniocentesis and chorionic villus sampling) in order to undertake genomic attempt uncover unifying genetic diagnosis. There are number traditional more novel tests available, which identify aneuploidy, chromosomal variation and/or sequence variants within genes. The cumulative diagnostic yield such technologies is approximately 25%, 6% up 80% some cohorts for QF‐PCR/G‐banding...