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Unilateral true hermaphrodite with 46,XX/46,XY dispermic chimerism.

A 13 year old female presented with ambiguous external genitalia, right inguinal ovotestis, left ovary, apparently normal Mullerian system, and absent Wolffian system. Cultured lymphocytes showed a 46 ...
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Psychopathology in mothers of children with pathogenic Copy Number Variants

Background Caring for children with pathogenic neurodevelopmental Copy Number Variants (CNVs) (ie, deletions and duplications of genetic material) can place a considerable burden on parents and their ...
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Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation

2 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada 3 Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, ...
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Review of the scientific evolution of gene therapy for the treatment of homozygous familial hypercholesterolaemia: past, present and future perspectives

Correspondence to Dr Ricardo Rodriguez-Calvo and Professor Luis Masana, Vascular Medicine and Metabolism Unit, Research Unit on Lipids and Atherosclerosis, ‘Sant Joan’ University Hospital, Universitat ...
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PURA protein mislocalisation in the nucleus: mechanistic basis for transcriptional dysregulation and DNA unwinding deficits in a model of the p.L148Wfs*77 PURA variant

Background Heterozygous PURA (Purine-rich element-binding protein A) variants cause PURA syndrome, a neurodevelopmental disorder characterised by hypotonia, seizures and intellectual disability.
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Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

aDepartment of Medicine, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2QQ, UK, bPrimary Care and Population Sciences, University College Medical School, Royal Free Campus, Rowland Hill Street, ...
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Accurate detection of D4Z4 repeats, methylation and allele haplotype in facioscapulohumeral muscular dystrophy 1 using nanopore long-read adaptive sampling sequencing: a pilot ...

Background Facioscapulohumeral muscular dystrophy 1 (FSHD1) is one of the most common autosomal dominant neuromuscular diseases. Genetic diagnosis of FSHD1 remains a challenge because of the long ...
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Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease

Professor R C Trembath, Division of Genetics and Molecular Medicine, King’s College School of Medicine, 9th Floor Guy’s Tower, Guy’s Hospital, SE1 9RT London, UK; ...
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Current Issue

Original research: Accurate detection of D4Z4 repeats, methylation and allele haplotype in facioscapulohumeral muscular dystrophy 1 using nanopore long-read adaptive sampling sequencing: a pilot study ...
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Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1

Correspondence to Dr Wendy Chung, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA; wkc15{at}cumc.columbia.edu Background SLC6A1 encodes GAT-1, a major ...
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Classification and identification of inherited brachydactylies

A search for patterns of malformation in the brachydactylies has resulted in new ways to identify the different types. Type A-1 can be characterised by a proportionate reduction of the middle ...
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Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map

2 Micro Array Facility, Flanders Interuniversity Institute for Biotechnology (VIB), Leuven, Belgium 3 Centre for Human Genetics, Flanders Interuniversity Institute for Biotechnology (VIB4), Department ...