Area of research
Cell Biology · Genetics
Research interest
Research interests include Medicine, Epidermolysis bullosa, Biology, Immunology, Atopic dermatitis, and Dermatology.
Individuals with <i>JAK1</i> variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
Comparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice uncover disease-relevant pathways
Successful treatment of JAK1-associated inflammatory disease
Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin
Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy
Clinical trial of ABCB5+ mesenchymal stem cells for recessive dystrophic epidermolysis bullosa
Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility
Interplay of Staphylococcal and Host Proteases Promotes Skin Barrier Disruption in Netherton Syndrome
Efficacy of Dupilumab for Controlling Severe Atopic Dermatitis in a Patient with Hyper-IgE Syndrome
Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted Syndrome
579 Rationale and design for the Kallikrein Inhibitor in Netherton Syndrome (KINS) pivotal clinical trial
Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa
Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa–Associated Squamous Cell Carcinoma
Bone marrow transplant with post‐transplant cyclophosphamide for recessive dystrophic epidermolysis bullosa expands the related donor pool and permits tolerance of nonhaematopoietic cellular grafts
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa
Dual T cell– and B cell–intrinsic deficiency in humans with biallelic <i>RLTPR</i> mutations
Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification
HEK293-Based Production Platform for γ-Retroviral (Self-Inactivating) Vectors: Application for Safe and Efficient Transfer of <i>COL7A1</i> cDNA