Kristina L. Stone

Epithelial Inflammation Resulting from an Inherited Loss-of-Function Mutation in EGFR

Patrick Campbell, Penny E. Morton, Takuya Takeichi et al. · Journal of Investigative Dermatology · 2014 · 97 citations · Full text

Fibrosis, Epithelial Inflammation, Signaling Pathway +7

Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome

J.E. Lai-Cheong, Gomathy Sethuraman, M Ramam et al. · British Journal of Dermatology · 2012 · 74 citations

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility

John A. McGrath, Kristina L. Stone, Rumena Begum et al. · The American Journal of Human Genetics · 2012 · 69 citations · Full text

Signal Transduction, Genetic Disorder, Inherited Skin Fragility +9

Pooled Sequencing of 531 Genes in Inflammatory Bowel Disease Identifies an Associated Rare Variant in BTNL2 and Implicates Other Immune Related Genes

Natalie J. Prescott, Benjamin Lehne, Kristina L. Stone et al. · PLoS Genetics · 2015 · 63 citations · Full text

Impact of next generation sequencing on diagnostics in a genetic skin disease clinic

Takuya Takeichi, Arti Nanda, Lu Liu et al. · Experimental Dermatology · 2013 · 63 citations