Jack A. Kosmicki
Regeneron (United States)(US)Geisinger Health System(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetic Associations and Epidemiology, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Autism Spectrum Disorder Research
Most-Cited Works
- → Analysis of protein-coding genetic variation in 60,706 humans(2016)10,243 cited
- → The mutational constraint spectrum quantified from variation in 141,456 humans(2020)9,856 cited
- → Synaptic, transcriptional and chromatin genes disrupted in autism(2014)2,891 cited
- → Predicting Splicing from Primary Sequence with Deep Learning(2019)2,752 cited
- → Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism(2020)2,371 cited
- → Computationally efficient whole-genome regression for quantitative and binary traits(2021)1,481 cited
- → A framework for the interpretation of de novo mutation in human disease(2014)1,115 cited
- → Exome sequencing and analysis of 454,787 UK Biobank participants(2021)1,014 cited
- → Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders(2017)549 cited