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BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement ...

Background BHLHE22 encodes a basic helix-loop-helix transcription factor expressed exclusively in the retina and central nervous system and functions as an important regulator of neuronal ...
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Evolving roles within the genomic medicine workforce: a revised framework for UK practice—position on behalf of the Association of Genetic Nurses and Counsellors and the ...

This document is written on behalf of the two professional bodies in the UK that represent genetic counsellors (the Association of Genetic Nurses and Counsellors (AGNC)) and clinical geneticists (the ...
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Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population

7 Soroka Medical Center Institute of Human Genetics, Be’er Sheva, Israel Background Preconception genetic screening is a key preventive strategy for identifying at-risk couples (ARCs) of inherited ...
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Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology

Oesophageal atresia and/or tracheo-oesophageal fistula are relatively common malformations occurring in approximately 1 in 3500 births. In around half of the cases (syndromic oesophageal atresia), ...
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Unified genetic risk score for prostate cancer enables improved risk stratification for clinical decision-making

Background Current clinical approaches to inherited prostate cancer (PCa) risk rely on binary classification of pathogenic variant (PV) carrier status without accounting for gene-specific ...
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Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

Background The 11p15 region contains two clusters of imprinted genes. Opposite genetic and epigenetic anomalies of this region result in two distinct growth disturbance syndromes: Beckwith-Wiedemann ...
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Online First

Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome ...
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Treatment switch in Fabry disease- a matter of dose?

Correspondence to Professor Eva Brand, Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology and Interdisciplinary Fabry Center Münster (IFAZ), University Hospital Münster, ...
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Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance

4 Department of Clinical Genetics, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK Correspondence to: Dr C M Hall, Department of Radiology, Great Ormond Street Hospital for Children ...
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Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders

4 Department of Pediatrics, Korea University College of Medicine, Seoul, Korea Correspondence to Dr Si Houn Hahn, Department of Pediatrics, University of Washington School of Medicine, Seattle ...
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Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries

1 Aix Marseille Univ, APHM, INSERM, MMG, U1251, GEnOPé Departement, M2GM, Timone Hospital, Marseille, France 12 Ecole Pratique des Hautes Etudes, EPHE, Université ...
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The molecular genetics of Marfan syndrome and related microfibrillopathies

a Laboratory of Paediatric Molecular Biology, Department of General Paediatrics, Charité University Hospital, Humboldt University, D-10098 Berlin, Germany, b Department of Pediatrics and Munroe Center ...