Publications

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.
J Invest Dermatol 2017 Nov 31;137(11):2344-2353. Epub 2017 Jul 31.
St. John's Institute of Dermatology, King's College London (Guy's Campus), London, UK; Centre for Dermatology and Genetic Medicine, Division of Molecular Medicine, University of Dundee, Dundee, UK. Electronic address:


Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
Am J Hum Genet 2017 Feb;100(2):364-370
St John's Institute of Dermatology, King's College London (Guy's Campus), London SE1 9RT, UK; Centre for Dermatology and Genetic Medicine, Division of Molecular Medicine, University of Dundee, Dundee DD1 5EH, UK. Electronic address:


Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.
Cell 2016 Sep;167(1):187-202.e17
Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore; Medical Genetics Department, Koç University School of Medicine, 34010 Istanbul, Turkey; Department of Paediatrics, National University of Singapore, Singapore 119228, Singapore. Electronic address:



Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
Am J Hum Genet 2014 Sep 21;95(3):308-14. Epub 2014 Aug 21.
St. John's Institute of Dermatology, King's College London, Guy's Campus, London SE1 9RT, UK; Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry, and Nursing, University of Dundee, Dundee DD1 5EH, UK. Electronic address:

Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.
Exp Dermatol 2013 Dec;22(12):825-31
St John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.



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