Background Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors. PRDM12 ...

Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition,FRDA, has led to ...

Department of Pathology, State University of New York-Downstate Medical Center, Brooklyn, NY, USA ...

1 Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan 2 Department of Urology, Kyoto University Graduate School of Medicine, Kyoto, Japan 3 Department of Preventive ...

3 Asan Institute for Life Sciences, Asan Medical Center, College of Medicine University of Ulsan, Seoul, The Republic of Korea Background Ambroxol (ABX) has been suggested as an augmentative ...

1 Department of Clinical Genetics, Addenbrooke’s Hospital, Cambridge, UK 2 Department of Medicine, University of Cambridge, Addenbrooke’s Hospital Correspondence to: Dr S M Park Department of Clinical ...

Background Whole blood is currently the most common DNA source for whole-genome sequencing (WGS), but for studies requiring non-invasive collection, self-collection, greater sample stability or ...

1 Institut de Génétique et du Biologie Moleculaire et Cellulaire, CNRS INSERM, Université Louis Pasteur, Illkirch, CU de Strasbourg, France 2 Department of Clinical Genetics, Leicester Royal Infirmary ...

9 Tel Aviv University Sackler Faculty of Medicine, Tel Aviv, Israel 10 Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel Background Constitutional mismatch repair deficiency syndrome ...

Correspondence to Prof. Francesca M. Buffa, Computational Biology & Integrative Genomics Lab, Department of Oncology, University of Oxford, Oxford, OX3 7DQ, UK ...

Background GGC repeat expansion in NOTCH2NLC has been recently linked to neuronal intranuclear inclusion disease (NIID) via unknown disease mechanisms. Herein, we explore the genetic origin of the ...

2 Trinity College Institute of Neuroscience, Trinity College, Dublin, Ireland 3 Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Dublin, Ireland 4 TrinSeq, Institute of Molecular ...