Publications by authors named "Cole Deisseroth"

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AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders.
Dongxue Mao, Chaozhong Liu, Linhua Wang, Rami Ai-Ouran, Cole Deisseroth

NEJM AI· May 2024

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Literature-based predictions of Mendelian disease therapies.
Cole A Deisseroth, Won-Seok Lee, Jiyoen Kim, Hyun-Hwan Jeong, Ryan S Dhindsa

Am J Hum Genet· October 2023

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An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.
Cole A Deisseroth, Vanesa C Lerma, Christina L Magyar, Jessica Mae Pfliger, Aarushi Nayak

Ann Neurol· July 2022

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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

Genet Med· February 2020

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ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.
Cole A Deisseroth, Johannes Birgmeier, Ethan E Bodle, Jennefer N Kohler, Dena R Matalon

Genet Med· July 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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EMPOWERING MULTI-COHORT GENE EXPRESSION ANALYSIS TO INCREASE REPRODUCIBILITY.
Winston A Haynes, Francesco Vallania, Charles Liu, Erika Bongen, Aurelie Tomczak, Cole A Deisseroth

Pac Symp Biocomput· July 2017

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