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:


PLACK syndrome resulting from a new homozygous insertion mutation in CAST.
J Dermatol Sci 2017 Nov 9;88(2):256-258. Epub 2017 Jun 9.
Department of Dermatology, Nice University Hospital, Nice, France; Reference Center of Hereditary Epidermolysis Bullosa CREBHN, Nice University Hospital, Nice, France.

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.
Matrix Biol 2017 Nov 11. Epub 2017 Nov 11.
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:


Caveolin-1 Controls Hyperresponsiveness to Mechanical Stimuli and Fibrogenesis-Associated RUNX2 Activation in Keloid Fibroblasts.
J Invest Dermatol 2017 Sep 9. Epub 2017 Sep 9.
International Research Center of Wound Repair and Regeneration, National Cheng Kung University, Tainan, Taiwan; Department of Physiology, College of Medicine, National Cheng Kung University, Tainan, Taiwan. 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:


Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1.
J Dermatol Sci 2016 Nov 11;84(2):210-212. Epub 2016 Aug 11.
St. John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK. Electronic address:

Induced Pluripotent Stem Cell Differentiation and Three-Dimensional Tissue Formation Attenuate Clonal Epigenetic Differences in Trichohyalin.
Stem Cells Dev 2016 Sep 30;25(18):1366-75. Epub 2016 Aug 30.
1 Assisted Conception Unit, Stem Cell Laboratory, Division of Women's Health, Women's Health Academic Centre, King's College London , London, United Kingdom .

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:



Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB.
J Invest Dermatol 2016 Jan;136(1):284-92
UCL Institute of Child Health, Molecular and Cellular Immunology Section & Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom. Electronic address:

Improving the understanding of the link between cognition and functional capacity in schizophrenia and bipolar disorder.
Schizophr Res 2015 Dec 1;169(1-3):121-127. Epub 2015 Oct 1.
Department of Psychiatry, University of California, San Diego, United States; Sam and Rose Stein Institute for Research on Aging, University of California, San Diego, CA, United States. Electronic address:


Lentiviral Engineered Fibroblasts Expressing Codon Optimized COL7A1 Restore Anchoring Fibrils in RDEB.
J Invest Dermatol 2015 Sep 22. Epub 2015 Sep 22.
UCL Institute of Child Health, Molecular and Cellular Immunology Section, Great Ormond Street Hospital NHS Foundation Trust, London, UK.

EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features.
Mol Genet Genomic Med 2015 Sep 4;3(5):452-8. Epub 2015 Jun 4.
Department of Pediatrics, The University of Pennsylvania Philadelphia, 19104, Pennsylvania ; Division of Biochemical Genetics, The Children's Hospital of Philadelphia Philadelphia, 19104, Pennsylvania.


Novel TGM5 mutations in acral peeling skin syndrome.
Exp Dermatol 2015 Apr;24(4):285-9
Department of Dermatology, Maastricht University Medical Center+, Maastricht, The Netherlands; GROW Research School for Oncology and Developmental Biology, Maastricht University Medical Center+, Maastricht, The Netherlands.


Functional variants in DPYSL2 sequence increase risk of schizophrenia and suggest a link to mTOR signaling.
G3 (Bethesda) 2014 Nov 20;5(1):61-72. Epub 2014 Nov 20.
Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine and, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland 21205


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:


Association of obesity and treated hypertension and diabetes with cognitive ability in bipolar disorder and schizophrenia.
Bipolar Disord 2014 Jun 12;16(4):422-31. Epub 2014 Apr 12.
Department of Psychiatry, University of California at San Diego, La Jolla, CA, USA; VA San Diego Healthcare System, La Jolla, CA, USA.

Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa.
J Invest Dermatol 2014 May 6;134(5):1246-1254. Epub 2013 Dec 6.
Department of Pediatrics, Blood and Marrow Transplant, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.

3D In vitro model of a functional epidermal permeability barrier from human embryonic stem cells and induced pluripotent stem cells.
Stem Cell Reports 2014 May 24;2(5):675-89. Epub 2014 Apr 24.
Stem Cell Laboratory, Assisted Conception Unit, Division of Women's Health, Women's Health Academic Centre, King's College London, London SE1 9RT, UK.


Keratin 9 is required for the structural integrity and terminal differentiation of the palmoplantar epidermis.
J Invest Dermatol 2014 Mar 20;134(3):754-763. Epub 2013 Aug 20.
Division of Molecular Medicine and Centre for Dermatology and Genetic Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK. Electronic address:

The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.
J Invest Dermatol 2014 Mar 4;134(3):845-849. Epub 2013 Sep 4.
Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany; Freiburg Institute for Advanced Studies, University of Freiburg, Freiburg, Germany. 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.





Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa.
PLoS One 2015 18;10(9):e0137639. Epub 2015 Sep 18.
Division of Cancer Research, University of Dundee, Dundee, United Kingdom; Department of Dermatology & Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.

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