jmg.bmj

Journal of Medical Genetics

As of 1 January 2025, the Journal of Medical Genetics (JMG) has become the official journal of the British Society for Genetic Medicine (BSGM), an exciting new partnership will strengthen the exchange ...
jmg.bmj

A cohort study of recurrence patterns among more than 54 000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance

Objectives To determine if the anatomical severity of oral clefting affects familial recurrence in a large population based sample. To provide reliable recurrence risk estimates for oral cleft for ...
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Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

O Zuffardi, Dipartimento di Patologia Umana ed Ereditaria, Sezione Biologia Generale e Genetica Medica, via forlanini 14, 27100 Pavia; zuffardi{at}unipv.it If you wish to reuse any or all of this ...
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High frequency of de novo mutations in Li–Fraumeni syndrome

Background: Li–Fraumeni syndrome is an autosomal dominant cancer predisposition syndrome caused by germline mutations in the TP53 gene. The frequency of germline de novo TP53 mutations is largely ...
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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 ...
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Mutations in WNT1 are a cause of osteogenesis imperfecta

1 Department of Human Genetics, McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada 2 Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, ...
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Novel in-frame variant in DES (p.Glu353dup) causes myofibrillar myopathy: clinical, in silico and functional studies

Background Desmin (DES) is a major intermediate filament protein involved in the structural integrity and function of striated muscles. Pathogenic mutations in DES are predominantly missense variants, ...
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Targeting autophagy in Duchenne muscular dystrophy: mechanistic insights and emerging therapeutic strategies

Duchenne muscular dystrophy (DMD) is a severe X-linked myopathy characterised by progressive skeletal and cardiac muscle degeneration, loss of ambulation, respiratory failure and premature mortality.
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Hirschsprung disease, associated syndromes and genetics: a review

Division of Paediatric Surgery, Department of Surgery, Li Ka Shing Faculty of Medicine of the University of Hong Kong, Hong Kong SAR, China If you wish to reuse any ...
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Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis

Correspondence to Dr Ian P Blair, Biomedical Sciences, Macquarie University Faculty of Medicine and Health Sciences, Sydney, NSW 2109, Australia; ian.blair{at}mq.edu.au Background Amyotrophic lateral ...
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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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Hirschsprung disease, associated syndromes, and genetics: a review

Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a ...