Journal of Medical Genetics

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes

Introduction Rapid advances in whole-exome sequencing (WES) have enabled large-scale detection of pathogenic variants.
Journal of Medical Genetics

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature

Background Dysregulation of the RAS-mitogen-activated protein kinase signalling pathway underlies RASopathies, a family of ...
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A case of Beckwith–Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus

4 Istituto di Genetica e Biofisica “A. Buzzati-Traverso”, CNR, Napoli, Italy Correspondence to Giovanni Neri, Istituto di Genetica Medica, Università Cattolica Sacro Cuore, Policlinico “A.Gemelli”, ...
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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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Online First

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study ...
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Streptococcal infection distinguishes different types of psoriasis

Correspondence to: Professor J C Prinz, Department of Dermatology, University of Munich, Frauenlobstrasse 9-11, D-80337 Munich, Germany; joerg.prinz{at}lrz.uni-muenchen.de If you wish to reuse any or ...
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Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

1 Academic Unit of Human Development and Health, Human Genetics and Genomics Medicine group, Faculty of Medicine, University of Southampton, Southampton, UK 2 Wessex Clinical Genetics Service, ...
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Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model

Division of Biomedical Sciences, University of California Riverside, California, USA Dr D Ethell, Biomedical Sciences, University of California, 900 University Ave, Riverside, CA 92521-0121, USA; doug ...
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Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism

1 MD/PhD and Experimental Medicine Programs, University of British Columbia and the British Columbia Research Institute for Children’s and Women’s Health, Vancouver, British Columbia, Canada 2 ...
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Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents

22 Molecular Cell Biology Laboratory, Department of Internal Medicine C, Sheba Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel 23 Lund Cancer Center Department of ...
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Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum

Correspondence to Professor Hidenobu Soejima, Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Saga University Faculty of Medicine, Saga, 849-8501, Japan; ...
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STRA13 expression and subcellular localisation in normal and tumour tissues: implications for use as a diagnostic and differentiation marker

Correspondence to: Dr A V Ivanova Laboratory of Immunobiology, Basic Research Program, SAIC-Frederick Inc, NCI-Frederick, Maryland 21702, USA; ivanovamail.ncifcrf.gov Background: STRA13 is a bHLH ...