J. Kosmicki

Genetics · 2014–2020

A researcher in the Science corpus: 12 papers; trusts 2 researchers and is trusted by 0 researchers here, as inferred from the citation graph.

Subfields

• Genetics — 313 citations into it
• Cognitive Neuroscience — 74 citations into it
• Computational Biology & Bioinformatics — 48 citations into it

Whom J. Kosmicki trusts overall

Their strongest outbound trust, strongest first, inferred from their citations.

1. James Y. Zou
2. Silvia De Rubeis
3. Steven Henikoff
4. J. Baio
5. Kaitlin E. Samocha

Who trusts J. Kosmicki overall

1. Kaitlin E. Samocha
2. Nawar Malhis

Papers from J. Kosmicki's perspective

Ordered by how strongly the researchers J. Kosmicki trusts endorse each paper. Same corpus, a different order for every researcher.

1. Functional Impact of Global Rare Copy Number Variation in Autism Spectrum Disorder (Nature)
2. A Copy Number Variation Morbidity Map of Developmental Delay (Nature Genetics)
3. MAGMA: Generalized Gene-Set Analysis of GWAS Data (PLoS Comput. Biol.)
4. Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex (Science)
5. regioneR: an R/Bioconductor package for the association analysis of genomic regions based on permutation tests (Bioinform.)
6. ToppGene Suite for gene list enrichment analysis and candidate gene prioritization (Nucleic Acids Res.)
7. ClinGen--the Clinical Genome Resource. (New England Journal of Medicine)
8. Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression (Nature Genetics)
9. Large-scale inference
10. Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010. (Morbidity and mortality weekly report. Surveillance summaries)

Their papers

• The mutational constraint spectrum quantified from variation in 141,456 humans (2020) — 8,441 citations
• Predicting Splicing from Primary Sequence with Deep Learning. (2019) — 2,423 citations
• A framework for the interpretation of de novo mutation in human disease (2014) — 1,035 citations
• Regional missense constraint improves variant deleteriousness prediction (2017) — 358 citations
• Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes (2019) — 1,088 citations
• Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2019) — 2,000 citations
• Transcript expression-aware annotation improves rare variant discovery and interpretation (2019) — 26 citations
• ASD and ADHD have a similar burden of rare protein-truncating variants (2018) — 29 citations
• Supplementary Information for Predicting the clinical impact of human mutation with deep neural networks (2018)
• Predicting the clinical impact of human mutation with deep neural networks (2018) — 44 citations
• Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples (2016) — 373 citations
• Synaptic, transcriptional, and chromatin genes disrupted in autism (2014) — 816 citations