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Archives of Facial Plastic Surgery|August 11, 2001
Effect of botulinum toxin pretreatment on laser resurfacing results: a prospective, randomized, blinded trialM S Zimbler, J B Holds, M S Kokoska, et al.
Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery|March 4, 2000
Tall cell variant: an aggressive form of papillary thyroid carcinomaS Prendiville, K D Burman, M D Ringel, et al.
The Journal of Investigative Dermatology|August 21, 2001
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosisE Sprecher, S Chavanas, J J DiGiovanna, et al.
Clinical Immunology (Orlando, Fla.)|January 4, 2017
The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosusRobert J Ragotte, Anita Dhanrajani, Julian Pleydell-Pearce, et al.
Medrxiv : the Preprint Server for Health Sciences|September 19, 2025
Human germline biallelic loss-of-function OSMR variants cause severe allergic diseaseMehul Sharma, Simran Samra, Yihui Liu, et al.
The Journal of Experimental Medicine|July 31, 2025
ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphomaMaggie P Fu, Mehul Sharma, Pariya Yousefi, et al.
Journal of Human Immunity|June 1, 2026
Human germline biallelic loss-of-function OSMR variants cause severe allergic diseaseSimran Samra, Mehul Sharma, Julia Körholz, et al.
Nature Genetics|June 16, 2009
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseGillian I Rice, Jacquelyn Bond, Aruna Asipu, et al.
American Journal of Medical Genetics. Part A|January 22, 2015
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, et al.
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