Timothy Lotze

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia et al. · Nature Genetics · 2008 · 627 citations · Full text

Developmental Anomaly, Developmental Biology, Brain Development +7

TLR7 gain-of-function genetic variation causes human lupus

Grant J. Brown, Pablo F. Cañete, Hao Wang et al. · Nature · 2022 · 521 citations · Full text

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Craig M. McDonald, Craig Campbell, Ricardo Erazo Torricelli et al. · The Lancet · 2017 · 446 citations · Full text

Rare Diseases, Urology, Clinical Trials +5

Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study

Craig M. McDonald, Erik Henricson, Richard T. Abresch et al. · The Lancet · 2017 · 446 citations

Long-term Effects, Duchenne Muscular Dystrophy, Degenerative Disease +4

CNS aquaporin-4 autoimmunity in children

Andrew McKeon, Vanda A. Lennon, Timothy Lotze et al. · Neurology · 2008 · 320 citations