A Mutation in TTF1/NKX2.1 Is Associated With Familial Neuroendocrine Cell Hyperplasia of Infancy

A map of human genome variation from population-scale sequencing

Nature · 2010 · 8K citations · Full text

Human Variation, Medicine, Genetics +6

Predicting the Functional Effect of Amino Acid Substitutions and Indels

Yongwook Choi, Gregory E. Sims, Sean V. Murphy et al. · PLoS ONE · 2012 · 2.9K citations · Full text

Genetics, Molecular Biology, Amino Acid Conservation +23

Predicting Deleterious Amino Acid Substitutions

Pauline C. Ng, Steven Henikoff · Genome Research · 2001 · 2.7K citations · Full text

Heterozygosity for a Surfactant Protein C Gene Mutation Associated with Usual Interstitial Pneumonitis and Cellular Nonspecific Interstitial Pneumonitis in One Kindred

Alan Q. Thomas, Kirk B. Lane, John A. Phillips et al. · American Journal of Respiratory and Critical Care Medicine · 2002 · 644 citations

Diffuse Lung Disease in Young Children

Gail Deutsch, Lisa R. Young, Robin R. Deterding et al. · American Journal of Respiratory and Critical Care Medicine · 2007 · 503 citations · Full text