Christine Stevens

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.1K citations · Full text

Phenotypic Variation, Protein-coding Genetic Variation, Genetics +5

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang et al. · Cell · 2020 · 2.3K citations · Full text

Neurodevelopmental Disorders, Molecular Neuroscience, Developmental Biology +11

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Benjamin M. Neale, Yan Kou, Li Liu et al. · Nature · 2012 · 1.8K citations · Full text

Neurodevelopmental Disorders, Autism Spectrum Disorders, Syndromic Autism +8

Intra- and Inter-cellular Rewiring of the Human Colon during Ulcerative Colitis

Christopher S. Smillie, Moshe Biton, José Ordovás-Montañés et al. · Cell · 2019 · 1.3K citations · Full text

Inflammation, Mucosal Immunology, Immunology +10

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