Carmen de Lucas Collantes

TLR7 gain-of-function genetic variation causes human lupus

Grant J. Brown, Pablo F. Cañete, Hao Wang et al. · Nature · 2022 · 563 citations · Full text

Life Sciences, Genetics, Immunology +17

Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus

Simon Jiang, Vicki Athanasopoulos, Julia I. Ellyard et al. · Nature Communications · 2019 · 122 citations · Full text

Life Sciences, Genetics, Immunology +17

The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data

Gema Ariceta, Signe Sparre Beck‐Nielsen, Annemieke M. Boot et al. · Orphanet Journal of Rare Diseases · 2023 · 50 citations · Full text

Medicine, Endocrinology, Pediatrics +17

Cyclosporine A for severe atopic dermatitis in children. efficacy and safety in a retrospective study of 63 patients

Á. Hernández‐Martín, Lucero Noguera‐Morel, Beatriz Bernardino-Cuesta et al. · Journal of the European Academy of Dermatology and Venereology · 2016 · 39 citations

Medicine, Dermatology, Pediatrics +15

Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population

Enrique Rodríguez-Rubio, Helena Gil‐Peña, Sara Chocrón et al. · Orphanet Journal of Rare Diseases · 2021 · 29 citations · Full text

Medicine, Genetics, Pediatrics +17