Barnaby Clark
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View article: DIPG-53. AN EXCEPTIONALLY RARE CASE OF A DIFFUSE MIDLINE GLIOMA WITH CONCOMITANT H3.1 K27M AND G34R MUTATIONS IN THE<i>HIST1H3C (H3C3)</i> GENE
DIPG-53. AN EXCEPTIONALLY RARE CASE OF A DIFFUSE MIDLINE GLIOMA WITH CONCOMITANT H3.1 K27M AND G34R MUTATIONS IN THE<i>HIST1H3C (H3C3)</i> GENE Open
BACKGROUND Histone mutations (H3 K27M, H3 G34R/V) define subtypes of paediatric-type diffuse high-grade gliomas (HGG) (diffuse midline glioma (DMG), H3 K27-altered, diffuse hemispheric glioma (DHG), H3 G34-mutant). The WHO classification r…
View article: THE ROLE OF A GENOMICS CLINICAL NURSE SPECIALIST IN HELPING TO BUILD A PATHWAY FOR WHOLE GENOME SEQUENCING TO BE OFFERED TO NEURO-ONCOLOGY PATIENTS
THE ROLE OF A GENOMICS CLINICAL NURSE SPECIALIST IN HELPING TO BUILD A PATHWAY FOR WHOLE GENOME SEQUENCING TO BE OFFERED TO NEURO-ONCOLOGY PATIENTS Open
AIMS Whole genome sequencing is currently being offered to paediatric, teenage and young adult neuro-oncology patients and this was being managed by a genomics practitioner who works cross-site. We found that some patients are being discha…
View article: The use of <scp>next‐generation</scp> sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper*
The use of <span>next‐generation</span> sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper* Open
The British Society for Haematology (BSH) produces Good Practice Papers to recommend good practice in areas where there is a limited evidence base but for which a degree of consensus or uniformity is likely to be beneficial to patient care…
View article: P1473: CREATING A RANDOM FOREST CLASSIFIER TO PREDICT HBF LEVELS IN SICKLE CELL DISEASE PATIENTS
P1473: CREATING A RANDOM FOREST CLASSIFIER TO PREDICT HBF LEVELS IN SICKLE CELL DISEASE PATIENTS Open
Background: Sickle cell disease (SCD) is caused by a genetic variant in the HBB gene, forming HbS. Expression of fetal globin (HbF), reduces the severity of SCD. Three main quatitative trait loci (QTL) have been identified that influence H…
View article: The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper
The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper Open
The British Society for Haematology (BSH) produces Good Practice Papers to recommend good practice in areas where there is a limited evidence base but for which a degree of consensus or uniformity is likely to be beneficial to patient care…
View article: Improving the laboratory diagnosis of pyruvate kinase deficiency
Improving the laboratory diagnosis of pyruvate kinase deficiency Open
Summary Pyruvate kinase (PK) deficiency is an autosomal recessive disease caused by mutations in the PKLR gene, which reduce erythrocyte PK enzyme activity and result in decreased energy synthesis in red cells, causing haemolytic anaemia. …
View article: TLR9 expression in chronic lymphocytic leukemia identifies a promigratory subpopulation and novel therapeutic target
TLR9 expression in chronic lymphocytic leukemia identifies a promigratory subpopulation and novel therapeutic target Open
Chronic lymphocytic leukemia (CLL) remains incurable despite B-cell receptor–targeted inhibitors revolutionizing treatment. This suggests that other signaling molecules are involved in disease escape mechanisms and resistance. Toll-like re…
View article: A method for noninvasive prenatal diagnosis of monogenic autosomal recessive disorders
A method for noninvasive prenatal diagnosis of monogenic autosomal recessive disorders Open
Using sickle cell disease as a model, Cutts et al describe a highly sensitive method for prenatal diagnosis of known single-gene defects using next-generation sequencing of maternal plasma cell-free DNA.
View article: S901 COMBINED GENE PANEL SEQUENCING AND EKTACYTOMETRY - THE NEXT GENERATION OF RED CELL DIAGNOSTICS
S901 COMBINED GENE PANEL SEQUENCING AND EKTACYTOMETRY - THE NEXT GENERATION OF RED CELL DIAGNOSTICS Open
Background: Autoimmune hemolytic anemia (AIHA) is clinically heterogeneous, from chronic compensated to abrupt hemolysis. Together with the rate of antibody mediated erythrocyte destruction, bone marrow reticulocyte compensation is a recen…
View article: A method for non-invasive prenatal diagnosis of monogenic autosomal recessive disorders
A method for non-invasive prenatal diagnosis of monogenic autosomal recessive disorders Open
Non-invasive prenatal testing (NIPT) to date is used in the clinic primarily to detect foetal aneuploidy. Few studies so far have focused on the detection of monogenic autosomal recessive disorders where mother and foetus carry the same mu…
View article: Novel <i><scp>ADA</scp>2</i> mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (<scp>DADA</scp>2)
Novel <i><span>ADA</span>2</i> mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (<span>DADA</span>2) Open
We evaluated deficiency of adenosine deaminase 2 (DADA2) in a non-consanguineous family with four children (Fig 1A). Both parents and their son are unaffected. The father has panlymphopenia but is clinically well. The eldest sibling, 4 yea…
View article: Congenital sideroblastic anemia in a female
Congenital sideroblastic anemia in a female Open
A 20-year-old female of Pakistani descent was referred because of a microcytic hypochromic anemia refractory to oral iron that had been present since early childhood. A diagnosis of thalassemia intermedia had previously been suspected but …
View article: Pyridoxine‐sensitive X‐linked ‘sideroblastic’ anaemia in the absence of ring sideroblasts – molecular diagnosis
Pyridoxine‐sensitive X‐linked ‘sideroblastic’ anaemia in the absence of ring sideroblasts – molecular diagnosis Open
A 2-year-old boy presented with a persistent productive cough and a 6-month history of worsening pallor and lethargy. He had been born by emergency Caesarean section at 41 weeks gestation for fetal distress but had subsequently been health…
View article: Beta thalassaemia intermedia due to co‐inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis
Beta thalassaemia intermedia due to co‐inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis Open
Co-inheritance of α thalassaemia reduces chain imbalance and disease severity in β thalassaemia homozygotes, while increasing α globin output in heterozygotes increases chain imbalance, converting a typically asymptomatic carrier state to …
View article: Haemoglobin Variant Screening in Jamaica: Meeting Student's Request
Haemoglobin Variant Screening in Jamaica: Meeting Student's Request Open
The Jamaican Cohort Study, established by the screening of 100 000 consecutive, non-operative deliveries at the main Government maternity hospital, Kingston, Jamaica between 1973 and 1981, provided the frequency of major haemoglobin varian…