Anne M. Remes

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 9.6K citations · Full text

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Alan E. Renton, Elisa Majounie, Adrian J. Waite et al. · Neuron · 2011 · 4.4K citations · Full text

Chromatin, Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis +8

Probing sporadic and familial Alzheimer’s disease using induced pluripotent stem cells

Mason A. Israel, Shauna H. Yuan, Cédric Bardy et al. · Nature · 2012 · 1.2K citations

Neurodegenerative Diseases, Induced Pluripotent Stem Cell, Alzheimer's Disease +9

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Elisa Majounie, Alan E. Renton, Kin Y. Mok et al. · The Lancet Neurology · 2012 · 1.2K citations · Full text

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Dementia +7

A genomic mutational constraint map using variation in 76,156 human genomes

Siwei Chen, Laurent C. Francioli, Julia K. Goodrich et al. · Nature · 2023 · 1.1K citations · Full text

Medicine, Genetics, Evolutionary Biology +8