4 Unitè de gènètique molèculaire, Groupe hospitalier Necker Enfants malades, Assistance Publique -Hôpitaux de Paris, Paris, France 5 Universitè Paris Descartes - Sorbonne Paris Citè, Institut Imagine, ...

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Background Positron emission tomography-CT (PET-CT) is widely used to diagnose cardiac sarcoidosis (CS). Emerging evidence suggests genetic arrhythmogenic cardiomyopathies (ACMs) may similarly present ...

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We analysed rare variants in the non-coding RNU4-2 gene as a potential cause of neurodevelopmental disorder (NDD) and intellectual disability (ID) in a large cohort of individuals enriched for ...

Over 15 years have passed since the discovery of the first autoinflammatory gene, MEFV, responsible for familial Mediterranean fever. The identification of another gene, TNFRSF1A, in 1999 led to the ...

Background Despite well-established criteria for genetic testing to rule out hereditary cancer syndromes (HCSs), most pathogenic variant (PV) carriers are not being tested. Thus, mechanisms that allow ...

This May, the World Health Assembly (WHA) will vote on re-establishing a mandate for the WHO to address the health consequences of nuclear weapons and war.1 Health professionals and their associations ...

Wilms tumour has been reported in association with over 50 different clinical conditions and several abnormal constitutional karyotypes. Conclusive evidence of an increased risk of Wilms tumour exists ...

Correspondence to: Dr William C Nichols Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, 1469 TCHRF, Cincinnati, OH 45229, USA; bill.nicholscchmc.org ...

Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan Background: PRF1 gene mutations are associated with familial haemophagocytic lymphohistiocytosis type 2 (FHL2).

RNU4-2 monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity ...