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 ...
jmg.bmj

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, ...
jmg.bmj

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”, ...
jmg.bmj

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 ...
jmg.bmj

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 ...
jmg.bmj

Genetics of dyslexia: the evolving landscape

Dyslexia is among the most common neurodevelopmental disorders, with a prevalence of 5–12%. At the phenotypic level, various cognitive components that enable reading and spelling and that are ...
jmg.bmj

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 ...
jmg.bmj

Online First

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study ...
jmg.bmj

Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix

Correspondence to Dr Teresa Esposito, Istituto di Genetica e Biofisica Adriano Buzzati Traverso,Consiglio Nazionale delle Ricerche, Via Pietro Castellino 111, 80131, Napoli, Italy.; teresa.esposito{at ...
jmg.bmj

The genetics of inherited macular dystrophies

Correspondence to: Professor Moore Institute of Ophthalmology, University College London, 11–43 Bath Street, London EC1V 9EL, UK; tony.moore{at}ucl.ac.uk The inherited macular dystrophies comprise a ...
jmg.bmj

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 ...