jmg.bmj11d
Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics
Background Current standard-of-care (SOC) methods for genetic testing are capable of resolving deletions and sequence variants, but they mostly fail to provide information on the breakpoints of ...
jmg.bmj23h
A complex chromosome rearrangement resulting in trisomy 15q22→qter
Laboratory of Medical Genetics, Department of Public Health, University of Alabama in Birmingham, Birmingham, Alabama, USA. * Laboratory of Medical Genetics, Department of Pediatrics, , Selma, Alabama ...
jmg.bmj11d
Genomic sequencing in paediatric oncology: navigating conflicting roles and responsibilities
Background This study explores the ethical and moral challenges faced by paediatric oncologists when they are informed of patient genomic results, particularly during molecular tumour boards (MTBs), ...
jmg.bmj14d
Portraying the full picture of Neurofibromatosis–Noonan syndrome: a systematic review of literature
Background and aims Neurofibromatosis–Noonan syndrome (NFNS) is an extremely rare genetic entity combining the clinical phenotype of two conditions: neurofibromatosis type 1 syndrome (NF1) and Noonan ...
jmg.bmj2d
On the relation between malaria and G-6-PD deficiency
On the basis of the hypothesis that in the regions where favism is present a high correlation exists between endemic malaria and the frequency of G-6-PD deficiency, Huheey and Martin (1975) in a ...
jmg.bmj5d
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)
Correspondence to Dr Katharina Wimmer, Medical University of Innsbruck, Division of Human Genetics, Peter-Mayr-Strasse 1, Innsbruck 6020, Austria; katharina.wimmer{at}i-med.ac.at Due to the ...
jmg.bmj6d
Contribution of de novo and inherited rare CNVs to very preterm birth
Background The genomic contribution to adverse health sequelae in babies born very preterm (<32 weeks’ gestation) is unknown. We conducted an investigation of rare CNVs in infants born very preterm as ...
jmg.bmj12d
Ocular coloboma: a reassessment in the age of molecular neuroscience
1 Department of Visual Neuroscience, Faculty of Medicine, Imperial College London, London, UK 2 Department of Cell and Molecular Biology, Faculty of Medicine, Imperial College London, London, UK 3 ...
jmg.bmj6d
A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratorium
Background In 2019, the Australian life insurance industry introduced a partial moratorium (ban) limiting the use of genetic test results in life insurance underwriting. The moratorium is industry ...
jmg.bmj13d
Cleidocranial dysplasia: clinical and molecular genetics
Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a ...
jmg.bmj11d
DiGeorge syndrome: part of CATCH 22.
DiGeorge syndrome (DGS) comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies. It results in almost all cases from a deletion within chromosome 22q11.
jmg.bmj7d
The phenotype of survivors of campomelic dysplasia
Correspondence to: Dr S Mansour, South-West Thames Regional Genetic Service, St George’s Hospital Medical School, Cranmer Terrace, Tooting, London SW17 0RE, UK; smansour{at}sghms.ac.uk Five patients ...