Publications by authors named "Karthik A Jagadeesh"

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Polygenic architecture of rare coding variation across 394,783 exomes.
Daniel J Weiner, Ajay Nadig, Karthik A Jagadeesh, Kushal K Dey, Benjamin M Neale

Nature· February 2023

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Systematically characterizing the roles of E3-ligase family members in inflammatory responses with massively parallel Perturb-seq.
Kathryn Geiger-Schuller, Basak Eraslan, Olena Kuksenko, Kushal K Dey, Karthik A Jagadeesh

bioRxiv· January 2023

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Publisher Correction: SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests.
Wei Zhou, Wenjian Bi, Zhangchen Zhao, Kushal K Dey, Karthik A Jagadeesh

Nat Genet· November 2022

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Polygenic enrichment distinguishes disease associations of individual cells in single-cell RNA-seq data.
Martin Jinye Zhang, Kangcheng Hou, Kushal K Dey, Saori Sakaue, Karthik A Jagadeesh

Nat Genet· October 2022

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SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests.
Wei Zhou, Wenjian Bi, Zhangchen Zhao, Kushal K Dey, Karthik A Jagadeesh

Nat Genet· October 2022

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Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics.
Karthik A Jagadeesh, Kushal K Dey, Daniel T Montoro, Rahul Mohan, Steven Gazal

Nat Genet· October 2022

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Treatment-associated remodeling of the pancreatic cancer endothelium at single-cell resolution.
Carina Shiau, Jennifer Su, Jimmy A Guo, Theodore S Hong, Jennifer Y Wo, Karthik A Jagadeesh

Front Oncol· September 2022

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Single-nucleus and spatial transcriptome profiling of pancreatic cancer identifies multicellular dynamics associated with neoadjuvant treatment.
William L Hwang, Karthik A Jagadeesh, Jimmy A Guo, Hannah I Hoffman, Payman Yadollahpour

Nat Genet· August 2022

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Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity.
Steven Gazal, Omer Weissbrod, Farhad Hormozdiari, Kushal K Dey, Joseph Nasser, Karthik A Jagadeesh

Nat Genet· June 2022

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Identifying disease-critical cell types and cellular processes across the human body by integration of single-cell profiles and human genetics.
Karthik A Jagadeesh, Kushal K Dey, Daniel T Montoro, Rahul Mohan, Steven Gazal

bioRxiv· November 2021

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COVID-19 tissue atlases reveal SARS-CoV-2 pathology and cellular targets.
Toni M Delorey, Carly G K Ziegler, Graham Heimberg, Rachelly Normand, Yiming Yang, Karthik A Jagadeesh

Nature· July 2021

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Avoiding genetic racial profiling in criminal DNA profile databases.
Jacob A Blindenbach, Karthik A Jagadeesh, Gill Bejerano, David J Wu

Nat Comput Sci· April 2021

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Single-cell meta-analysis of SARS-CoV-2 entry genes across tissues and demographics.
Christoph Muus, Malte D Luecken, Gökcen Eraslan, Lisa Sikkema, Avinash Waghray, Karthik A Jagadeesh

Nat Med· March 2021

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A single-cell and spatial atlas of autopsy tissues reveals pathology and cellular targets of SARS-CoV-2.
Toni M Delorey, Carly G K Ziegler, Graham Heimberg, Rachelly Normand, Yiming Yang, Karthik A Jagadeesh

bioRxiv· February 2021

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AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature.
Johannes Birgmeier, Maximilian Haeussler, Cole A Deisseroth, Ethan H Steinberg, Karthik A Jagadeesh

Sci Transl Med· May 2020

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AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature.
Johannes Birgmeier, Cole A Deisseroth, Laura E Hayward, Luisa M T Galhardo, Andrew P Tierno, Karthik A Jagadeesh

Genet Med· February 2020

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Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1β inhibition.
Yael Gernez, Adriana A de Jesus, Hanouf Alsaleem, Claudia Macaubas, Amitava Roy, Karthik A Jagadeesh

J Allergy Clin Immunol· October 2019

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CRISPR/Cas9 Genome Engineering in Engraftable Human Brain-Derived Neural Stem Cells.
Daniel P Dever, Samantha G Scharenberg, Joab Camarena, Eric J Kildebeck, Joseph T Clark, Karthik A Jagadeesh

iScience· May 2019

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S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing.
Karthik A Jagadeesh, Joseph M Paggi, James S Ye, Peter D Stenson, David N Cooper

Nat Genet· April 2019

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Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization.
Karthik A Jagadeesh, Johannes Birgmeier, Harendra Guturu, Cole A Deisseroth, Aaron M Wenger

Genet Med· February 2019

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An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.
Heidi I Chen, Karthik A Jagadeesh, Johannes Birgmeier, Aaron M Wenger, Harendra Guturu

Eur J Hum Genet· December 2018

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Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome.
Johannes Birgmeier, Edward D Esplin, Karthik A Jagadeesh, Harendra Guturu, Aaron M Wenger

Am J Med Genet A· April 2018

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Deriving genomic diagnoses without revealing patient genomes.
Karthik A Jagadeesh, David J Wu, Johannes A Birgmeier, Dan Boneh, Gill Bejerano

Science· August 2017

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M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity.
Karthik A Jagadeesh, Aaron M Wenger, Mark J Berger, Harendra Guturu, Peter D Stenson

Nat Genet· December 2016

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