jmg.bmj17h
Meiotic chromatid recombination and segregation assessed with human single cell genome sequencing data
Background The human oocyte transmits one set of haploid genome into female pronucleus (FPN) while discards the remaining genome into the first polar body (PB1) and the second polar body (PB2). The ...
jmg.bmj22h
Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles
The brachydactylies are a group of conditions in which various subtypes have been defined based upon the specific pattern of digital bones involved. Type A1 brachydactyly is principally characterised ...
jmg.bmj2d
17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction
Background: Microdeletions at 17q21.31 have recently been shown to cause a novel syndrome. Here we identify the reciprocal 17q21.31 duplication syndrome in 4 patients. Method: Patients with the ...
jmg.bmj6d
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
Correspondence to: Professor Kate Bushby Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK; ...
jmg.bmj8d
Myasthenia gravis genome-wide association study implicates AGRN as a risk locus
4 The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus Correspondence to Dr Peristera Paschou, Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA; ...
jmg.bmj10d
TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents
Introduction TMEM16A is a calcium-activated chloride channel expressed in various secretory epithelia. Two siblings presented in early infancy with reduced intestinal peristalsis and recurrent ...
jmg.bmj10d
Six at Sixty. Malignant peripheral nerve sheath tumours in NF1: 20-year review of a highly cited paper
The veracity of the estimates in our study was corroborated by a whole population epidemiological study of NF1 in Finland (population 5.5M).5 A total of 58 MPNST were observed from 1987 to 2012, ...
jmg.bmj24d
Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study
Background For female patients with Lynch syndrome (LS), endometrial cancer (EC) is often their first cancer diagnosis. A testing pathway of somatic tumour testing triage followed by germline mismatch ...
jmg.bmj28d
Genetics of congenital hypothyroidism
1 Department of Clinical Genetics, Addenbrooke’s Hospital, Cambridge, UK 2 Department of Medicine, University of Cambridge, Addenbrooke’s Hospital Correspondence to: Dr S M Park Department of Clinical ...
jmg.bmj1mon
Nail patella syndrome: a review of the phenotype aided by developmental biology
1 Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children’s Hospital, Alder Hey, Eaton Road, Liverpool L12 2AP, UK 2 Merseyside and Cheshire Molecular Genetics Laboratory, ...
jmg.bmj1mon
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program
Correspondence to Professor Tiong Yang Tan, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; tiong.tan{at}vcgs.org.au Background Clinical ...
jmg.bmj1mon
Splicing in action: assessing disease causing sequence changes
Variations in new splicing regulatory elements are difficult to identify exclusively by sequence inspection and may result in deleterious effects on precursor (pre) mRNA splicing. These mutations can ...