Rosemary Lemons

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

Xinping Zhao, David M. Alvarado, Shirley Rainier et al. · Nature Genetics · 2001 · 359 citations

Life Sciences, Genetics, Neurology +10

ATRX loss promotes tumor growth and impairs nonhomologous end joining DNA repair in glioma

Carl Koschmann, Anda‐Alexandra Calinescu, Felipe J. Núñez et al. · Science Translational Medicine · 2016 · 306 citations · Full text

Life Sciences, Genetics, Oncology +17

CTNS Mutations in an American-Based Population of Cystinosis Patients

Vorasuk Shotelersuk, David E. Larson, Yair Anikster et al. · The American Journal of Human Genetics · 1998 · 174 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

A cysteine-specific lysosomal transport system provides a major route for the delivery of thiol to human fibroblast lysosomes: possible role in supporting lysosomal proteolysis.

R.L. Pisoni, T L Acker, Karen M Lisowski et al. · The Journal of Cell Biology · 1990 · 163 citations · Full text

Life Sciences, Biochemistry, Cell Biology +16

Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk

Xiaoyan Jia, Bala Bharathi Burugula, Victor Chen et al. · The American Journal of Human Genetics · 2020 · 157 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17