Kelsell, David Peter

Top Publications

Top Publications Authored or Co-Authored by "Kelsell, David Peter"

• Mutations in GJB6 cause hidrotic ectodermal dysplasia

  Nature Genetics, Volume 26, No. 2, Year 2000, Citations 253
• Homozygous mutations in the 5′ region of the JUP gene result in cutaneous disease but normal heart development in children

  Journal of Investigative Dermatology, Volume 130, No. 6, Year 2010, Citations 54
• Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions

  American Journal of Human Genetics, Volume 99, No. 2, Year 2016, Citations 25
• Deep palmar phenotyping in atopic eczema: patterns associated with filaggrin variants, disease severity and barrier function in a South Asian population

  The British journal of dermatology, Volume 188, No. 6, Year 2023, Citations 19
• A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID)

  Clinical Immunology, Volume 187, Year 2018, Citations 15