Publications

Here is a list of my published and preprinted works. For a more reliably updated source, please refer to my Google Scholar profile.

Transcriptomics and chromatin accessibility in multiple African population samples

Published in bioRxiv, 2023

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Marianne K DeGorter, Pagé C Goddard, Emre Karakoc, Soumya Kundu, Stephanie M Yan, Daniel Nachun, Nathan Abell, Matthew Aguirre, Tommy Carstensen, Ziwei Chen, Matthew Durrant, Vikranth R Dwaracherla, Karen Feng, Michael J Gloudemans, Naiomi Hunter, Mohana PS Moorthy, Cristina Pomilla, Kameron B Rodrigues, Courtney J Smith, Kevin S Smith, Rachel A Ungar, Brunilda Balliu, Jacques Fellay, Paul Flicek, Paul J McLaren, Brenna Henn, Rajiv C McCoy, Lauren Sugden, Anshul Kundaje, Manjinder S Sandhu, Deepti Gurdasani, Stephen B Montgomery, &quotTranscriptomics and chromatin accessibility in multiple African population samples." bioRxiv, 2023. https://doi.org/10.1101%2F2023.11.04.564839

Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes

Published in Circulation: Genomic and Precision Medicine, 2023

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Mengyao Yu, Matthew Aguirre, Meiwen Jia, Ketrin Gjoni, Aldo Cordova-Palomera, Chad Munger, Dulguun Amgalan, X Rosa Ma, Alexandre Pereira, Catherine Tcheandjieu, Christine Seidman, Jonathan Seidman, Martin Tristani-Firouzi, Wendy Chung, Elizabeth Goldmuntz, Deepak Srivastava, Ruth JF Loos, Nathalie Chami, Heather Cordell, Martina Dreßen, Bertram Mueller-Myhsok, Harald Lahm, Markus Krane, Katherine S Pollard, Jesse M Engreitz, Sarah A Gagliano Taliun, Bruce D Gelb, James R Priest, "Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes" Circulation: Genomic and Precision Medicine, 2023. https://www.ahajournals.org/doi/abs/10.1161/CIRCGEN.122.003968

Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy

Published in Circulation: Genomic and Precision Medicine, 2023

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Mengyao Yu, Andrew R Harper, Matthew Aguirre, Maureen Pittman, Catherine Tcheandjieu, Dulguun Amgalan, Christopher Grace, Anuj Goel, Martin Farrall, Ke Xiao, Jesse Engreitz, Katherine S Pollard, Hugh Watkins, James R Priest, "Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy" Circulation: Genomic and Precision Medicine, 2023. https://www.ahajournals.org/doi/abs/10.1161/CIRCGEN.122.003708

Integration of rare expression outlier-associated variants improves polygenic risk prediction

Published in The American Journal of Human Genetics, 2022

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Craig Smail, Nicole Ferraro, Qin Hui, Matthew Durrant, Matthew Aguirre, Yosuke Tanigawa, Marissa Keever-Keigher, Abhiram Rao, Johanne Justesen, Xin Li, Michael Gloudemans, Themistocles Assimes, Charles Kooperberg, Alexander Reiner, Jie Huang, Christopher O'Donnell, Yan Sun, Manuel Rivas, Stephen Montgomery, "Integration of rare expression outlier-associated variants improves polygenic risk prediction." The American Journal of Human Genetics, 2022. https://www.sciencedirect.com/science/article/pii/S000292972200163X

Bayesian model comparison for rare-variant association studies

Published in The American Journal of Human Genetics, 2021

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Guhan Venkataraman, Christopher DeBoever, Yosuke Tanigawa, Matthew Aguirre, Alexander Ioannidis, Hakhamanesh Mostafavi, Chris Spencer, Timothy Poterba, Carlos Bustamante, Mark Daly, Matti Pirinen, Manuel Rivas, "Bayesian model comparison for rare-variant association studies." The American Journal of Human Genetics, 2021. https://www.sciencedirect.com/science/article/pii/S0002929721004171

Genetic determinants of interventricular septal anatomy and the risk of ventricular septal defects and hypertrophic cardiomyopathy

Published in medRxiv, 2021

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Mengyao Yu, Andrew Harper, Matthew Aguirre, Maurren Pittman, Dulguun Amgalan, Christopher Grace, Anuj Goel, Martin Farrall, Ke Xiao, Jesse Engreitz, et. al., "Genetic determinants of interventricular septal anatomy and the risk of ventricular septal defects and hypertrophic cardiomyopathy." medRxiv, 2021. https://doi.org/10.1101/2021.04.19.21255650

A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population

Published in PLoS genetics, 2020

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Catherine Tcheandjieu, Matthew Aguirre, Stefan Gustafsson, Priyanka Saha, Praneetha Potiny, Melissa Haendel, Erik Ingelsson, Manuel Rivas, James Priest, "A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population." PLoS genetics, 2020. https://doi.org/10.1371/journal.pgen.1008802

Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology

Published in Nature Communications, 2019

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Yosuke Tanigawa, Jiehan Li, Johanne Justesen, Heiko Horn, Matthew Aguirre, Christopher DeBoever, Chris Chang, Balasubramanian Narasimhan, Kasper Lage, Trevor Hastie, et. al., "Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology." Nature Communications, 2019. https://doi.org/10.1038/s41467-019-11953-9