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A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene
1 Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia 2 Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ...
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Phenome-wide association study maps new diseases to the human major histocompatibility complex region
1 Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA 2 Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, ...
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Closing time for CATCH22
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be ...
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Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists
Purpose and scope The aim of this position statement is to provide recommendations for Canadian healthcare professionals regarding the use of genome-wide sequencing (GWS) in the context of diagnostic ...
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Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine
Correspondence to Dr Thomas Folkmann Hansen, Danish Headache Center, Department of Neurology, Rigshospitalet Glostrup, Glostrup DK2600, Denmark; thomas.folkmann.hansen{at}regionh.dk Methods 2558 male ...
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Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success
1 Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Limburg, Netherlands 2 Department of Obstetrics & Gynaecology Maastricht University Medical Centre, Maastricht ...
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New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction.
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Online First
Development and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex ...
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Significance of non-coding circular RNAs and micro RNAs in the pathogenesis of cardiovascular diseases
Correspondence to Dr Guoan Zhao, The Cardiovascular ResearchCenter of the First Affiliated Hospital of Xinxiang Medical University, Xinxiang City 453003, China; zhaoguoan16{at}126.com Heart failure, ...
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Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6)
1 Cardiovascular Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA 2 Section on Human Genetics, Laboratory of Molecular Genetics, National ...
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Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach
Correspondence to Dr Georgios Koutsis, Neurogenetics Unit, 1st Department of Neurology, National and Kapodistrian University of Athens, Eginition University Hospital, Athens 11528, Greece; gkoutsi2{at ...
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Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson’s disease
Background Classical randomisation of clinical trial patients creates a source of genetic variance that may be contributing to the high failure rate seen in neurodegenerative disease trials. Our ...