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2017The Microbiological Landscape of Anaerobic Infections in Hidradenitis Suppurativa: A Prospective Metagenomic Study, Clin. Infect. Dis. 2017 Jul;65(2):282-291.
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2015Deciphering the microbiology of hidradenitis suppurativa: a step forward towards understanding an enigmatic inflammatory skin disease, Exp. Dermatol. 2015 Oct;24(10):736-7.
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2015A. First Nicastrin mutation in PASH syndrome Br, J Dermatol 15 Aug;173(2):610-2..
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2015Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia, J. Invest. Dermatol. 2015 Jun;135(6):1475-8.
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2015Olmsted syndrome: clinical, molecular and therapeutic aspects, Orphanet J Rare Dis 2015;10:33.
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2014Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17, Br. J. Dermatol. 2014 Dec;171(6):1565-7.
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2014Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations, Br. J. Dermatol. 2014 Sep;171(3):675-8.
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2014A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia, JAMA Dermatol 2014 Mar;150(3):303-6.
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2014Genetics of atopic dermatitis: beyond filaggrin-the role of thymic stromal lymphopoietin in disease persistence, JAMA Dermatol 2014 Mar;150(3):248-50.
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2014A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation, Heart Rhythm 2014 Jun;11(6):1015-23.
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2013Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome, Circ Cardiovasc Genet 2013 Aug;6(4):354-61.
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2011Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing, Ophthalmic Genet. 2012 Mar;33(1):18-22.
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2010R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation, Heart Rhythm 2011 Jan;8(1):48-55.
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2007FCRL3 -169CT functional polymorphism in type 1 diabetes and autoimmunity traits, Biomed. Pharmacother. 2008 Mar;62(3):153-7.
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2007PTPN22 R620W functional variant in type 1 diabetes and autoimmunity related traits, Diabetes 2007 Feb;56(2):522-6.
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2006Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism, Nat. Genet. 2006 Jun;38(6):682-7.
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2004Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes, Hum. Mol. Genet. 2005 Jan;14(1):1-5.