Ryan L. Collins

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

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

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

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · 2019 · 1.8K citations · Full text

Genetics, Genomics, Clinical Genetics +22

Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Phil H. Lee, Verneri Anttila, Hyejung Won et al. · Cell · 2019 · 1.4K citations · Full text

Psychiatry, Psychiatric Disorders, Genetic Disorder +15

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