Journal of Medical Genetics

UK consensus recommendations for onward testing for Lynch syndrome in patients with deficient mismatch repair (dMMR) non-colorectal/non-endometrial cancers

Background Tumour testing for microsatellite instability (MSI) or mismatch repair deficiency (dMMR) is used to screen for ...
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High cumulative risk of colorectal cancers and desmoid tumours and fibromatosis in South Asian APC mutation carriers

Management of familial adenomatous polyposis (FAP) is guided by the cumulative risk of colorectal cancer (CRC) and aggressive fibromatosis/desmoid (AF/D). The first non-Caucasian FAP cohort with ...
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Genetics of the polymicrogyria syndromes

1 Neurogenetics Unit, Montreal Neurological Hospital and Institute, and the Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada 2 Neurogenetics Unit, Montreal ...
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Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation

Correspondence to Professor Johannes Häberle, Division of Metabolism, University Children's Hospital Zurich, Steinwiesstrasse 75, Zurich 8032, Switzerland; Johannes.haeberle{at}kispi.uzh.ch Background ...
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Online First

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials ...
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Mutations in hepatocyte nuclear factor-1β and their related phenotypes

Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK Correspondence to: Professor Andrew T Hattersley Diabetes and Vascular Medicine, Peninsula Medical School, Barrack ...
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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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Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era

Correspondence to Dr Tuula Rinne, Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, Netherlands; tuula.rinne{at}radboudumc.nl Background This study evaluates 6 years of ...
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A cohort study of recurrence patterns among more than 54 000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance

Objectives To determine if the anatomical severity of oral clefting affects familial recurrence in a large population based sample. To provide reliable recurrence risk estimates for oral cleft for ...
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17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

Background: Microdeletions at 17q21.31 have recently been shown to cause a novel syndrome. Here we identify the reciprocal 17q21.31 duplication syndrome in 4 patients. Method: Patients with the ...
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CRISPR-Cas9 for medical genetic screens: applications and future perspectives

Correspondence to Dr He Jing-Dong, Department of Clinical Oncology, Huai'an First People's Hospital, Nanjing Medical University, Huai'an, China; 13861596338@126.com Dr Xiao-Jie Lu, Department of ...