Ronald M. Laxer

An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

Scott Canna, Adriana A. de Jesus, Sushanth Gouni et al. · Nature Genetics · 2014 · 735 citations · Full text

Life Sciences, Immunology, Molecular Genetics +14

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

Qing Zhou, Hongying Wang, Daniella M. Schwartz et al. · Nature Genetics · 2015 · 633 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Anath C. Lionel, Gregory Costain, Nasim Monfared et al. · Genetics in Medicine · 2017 · 565 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Toward New Classification Criteria for Juvenile Idiopathic Arthritis: First Steps, Pediatric Rheumatology International Trials Organization International Consensus

Alberto Martini, Angelo Ravelli, Tadej Avčin et al. · The Journal of Rheumatology · 2018 · 546 citations · Full text

Medicine, Clinical Sciences, Pediatrics +15

Juvenile localized scleroderma: clinical and epidemiological features in 750 children. An international study

Francesco Zulian, Balu H. Athreya, Ronald M. Laxer et al. · Lara D. Veeken · 2005 · 446 citations · Full text

Medicine, Dermatology, Pediatrics +16