Publications

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2020
Boyden, L. M. et al. Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis. Am J Hum Genet 107, 158-163 (2020).
2019
Duchatelet, S. et al. Mutations in PERP Cause Dominant and Recessive Keratoderma. J Invest Dermatol 139, 380-390 (2019).
2017
Boyden, L. M. et al. Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. Am J Hum Genet 100, 978-984 (2017).
2016
Boyden, L. M. et al. Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. Hum Mol Genet 25, 348-57 (2016).
2015
Boyden, L. M. et al. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. J Invest Dermatol 135, 1540-1547 (2015).
Choate, K. A. et al. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. J Clin Invest 125, 1703-7 (2015).
Lim, Y. H. et al. Somatic Activating RAS Mutations Cause Vascular Tumors Including Pyogenic Granuloma. J Invest Dermatol 135, 1698-1700 (2015).