Author

Kristina L. Stone

Observed names: K. Stone, Kristina Stone, Kristina L. Stone

Observed institutions: Guy's Hospital, King's College London

OpenAlex ID: A5110035635

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

2014 · Patrick Campbell, Penny E. Morton, et al. · Journal of Investigative Dermatology · 95

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

2012 · John A. McGrath, Kristina L. Stone, et al. · The American Journal of Human Genetics · 72

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

2012 · J.E. Lai-Cheong, G. Sethuraman, et al. · British Journal of Dermatology · 72

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

2013 · Takuya Takeichi, Arti Nanda, et al. · Experimental Dermatology · 64

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

2015 · Natalie J. Prescott, Benjamin Lehne, et al. · PLoS Genetics · 58

Acral Peeling Skin Syndrome Resulting from a Homozygous Nonsense Mutation in the CSTA Gene Encoding Cystatin A

2013 · Aleksandar L. Krunic, Kristina L. Stone, et al. · Pediatric Dermatology · 43

Exome Sequencing and Genotyping Identify a Rare Variant in NLRP7 Gene Associated With Ulcerative Colitis

2017 · Alexandros Onoufriadis, Kristina Stone, et al. · Journal of Crohn s and Colitis · 22

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

2021 · Lucy Loong, Cankut Cubuk, et al. · Genetics in Medicine · 12

Next generation diagnostics of heritable connective tissue disorders

2013 · Amr Salam, Michael A. Simpson, et al. · Matrix Biology · 12

Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis

2016 · Takuya Takeichi, Lu Liu, et al. · Journal of Investigative Dermatology · 8

Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer

2025 · Sophie Allen, Charlie F. Rowlands, et al. · Genetics in Medicine · 3

G28 A Novel Missense Mutation in Keratin 1 Underlying Clinically Mild Epidermolytic Ichthyosis Mimicking Epidermolysis Bullosa Simplex Superficialis

2013 · A. MacKenzie, P. Dopping-Hepenstal, et al. · Archives of Disease in Childhood · 1

Whole exome sequencing in congenital hypogonadotropic hypogonadism

2015 · Louise Izatt, Paul Carroll, et al. · Endocrine Abstracts

Works count: 13

Citation count: 462

H-index: 9

I10-index: 9