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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

56 CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST); Universitat Pompeu Fabra (UPF), Barcelona, Spain 57 Unité de Neurophysiologie Clinique, Centre ...
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Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ...

Background: Neurofibromatosis type 2 (NF2) is almost unique among inherited disorders in the frequency of mosaicism in the first affected generation. However, the implications of this on transmission ...
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Clinical and molecular genetics of Stickler syndrome

a Vitreoretinal Service, Department of Ophthalmology, Box 41, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2QQ, UK, b Department of Medical Genetics, University of Cambridge, Box 134, Addenbrooke ...
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Sequencing every UK newborn: why cold storage economics should shape policy

Whole-genome sequencing (WGS) for every UK newborn is hailed as a leap towards lifelong personalised medicine, yet policymakers have scarcely examined the informatics iceberg beneath the initiative: ...
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MPS II in females: molecular basis of two different cases

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Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion

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Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation

We report on the association of absent patellae, genital and renal anomalies, dysmorphic features, and mental retardation in seven children (six boys and one girl) belonging to five unrelated families ...
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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 ...
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Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal ...

Introduction: Myopathy, encephalopathy, lactic acidosis, and stroke-like (MELAS) syndrome, a maternally inherited disorder that is among the most common mitochondrial DNA (mtDNA) diseases, is usually ...
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The genetics of strabismus

Strabismus (misalignment of the eyes; also known as “squint”) comprises a common heterogeneous group of disorders characterised by a constant or intermittent ocular deviation often associated with ...
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Comprehensive genomic variation profiling of cervical intraepithelial neoplasia and cervical cancer identifies potential targets for cervical cancer early warning

7 Shenzhen People’s Hospital, Second Clinical Medical College of Jinan University, Shenzhen, China Background To better understand the pathogenesis of cervical cancer (CC), we systematically analysed ...
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Genetics of bipolar disorder

Bipolar disorder (also known as manic depressive illness) is a complex genetic disorder in which the core feature is pathological disturbance in mood (affect) ranging from extreme elation, or mania, ...