Intron-Size Constraint as a Mutational Mechanism in Rothmund-Thomson Syndrome

Initial sequencing and analysis of the human genome

Eric S. Lander, Lauren Linton, Bruce W. Birren et al. · Nature · 2001 · 24.3K citations · Full text

Human Hypertension Caused by Mutations in WNK Kinases

Frederick H. Wilson, Sandra Disse-Nicodème, Keith A. Choate et al. · Science · 2001 · 1.5K citations

Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome

Saori Kitao, Akira Shimamoto, Makoto Goto et al. · Nature Genetics · 1999 · 667 citations

Mendelian Disorder, Genetic Disorder, Genetics +4

Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients

Lisa L. Wang, Moise L. Levy, Richard A. Lewis et al. · American Journal of Medical Genetics · 2001 · 319 citations

Rothmund-Thomson syndrome due toRECQ4 helicase mutations: Report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome

Noralane M. Lindor, Yasuhiro Furuichi, Saori Kitao et al. · American Journal of Medical Genetics · 2000 · 176 citations