James Broach

Distinguished Professor and Chair of Biochemistry and Molecular Biology

James Broach

Huck Affiliations

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Most Recent Publications

A Systematic Review of Human Paenibacillus Infections and Comparison of Adult and Pediatric Cases

Danielle Smith, Kristen Bastug, Kathy Burgoine, James R. Broach, E. Adrianne Hammershaimb, Christine Hehnly, Sarah U. Morton, Marwan Osman, Steven J. Schiff, Jessica E. Ericson, 2025, Pediatric Infectious Disease Journal on p. 455-461

Genome Instability Precedes Viral Integration in Human Papillomavirus–Transformed Tonsillar Keratinocytes

Kimberly Chan, Christopher Tseng, Emily Milarachi, David Goldrich, Lisa Schneper, Kathryn Sheldon, Cesar Aliaga, Samina Alam, Sreejata Chatterjee, Karam El-Bayoumy, Craig Meyers, David Goldenberg, James R. Broach, 2025, Cell Growth and Differentiation on p. 119-127

A framework for sharing of clinical and genetic data for precision medicine applications

Ahmed Elhussein, Ulugbek Baymuradov, Peter Gregersen, Katharine Nicholson, Kerstin Lindblad-Toh, Orit Rozenblatt-Rosen, Kendall Van Keuren-Jensen, Rita Sattler, Yossef Lerner, Steven Altschuler, Lani Wu, Vilas Menon, Corey McMillan, John Ravits, Vivian Drory, Iris Broce, Brent Harris, Zhang Bin Zhang, Colin Smith, Ophir Shalem, Sabrina Paganoni, Towfique Raj, Suma Babu, Robert H. Baloh, Marc Gotkine, Leonidas Stefanis, Darius J. Adams, Dale J. Lange, Nazem Atassi, John Crary, Jennifer Phillips-Cremins, Mary Poss, Eleonora Aronica, Matt Harms, Robert Bowser, Avindra Nath, Joshua Dubnau, Nikolaos A. Patsopoulos, Molly G. Hammell, Terry Heiman-Patterson, Daniel J. MacGowan, Eran Hornstein, Suvankar Pal, Siddharthan Chandran, Timothy M. Miller, Efthimios Dardiotis, Steve Finkbeiner, Leslie M. Thompson, Zachary Simmons, James R. Broach, 2024, Nature Medicine on p. 3578-3589

Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS

Tess D. Pottinger, Joshua E. Motelow, Gundula Povysil, Cristiane A.Martins Moreno, Zhong Ren, Hemali Phatnani, Avindra Nath, Joshua Dubnau, Nikolaos A. Patsopoulos, Molly G. Hammell, Terry Heiman-Patterson, Daniel J. MacGowan, Eran Hornstein, Suvankar Pal, Steve Parrott, Siddharthan Chandran, Timothy M. Miller, Efthimios Dardiotis, Steve Finkbeiner, Leslie M. Thompson, Gregory A. Cox, Pietro Fratta, Andrea Malaspina, James D. Berry, Noah Zaitlen, Frank Baas, Lyle W. Ostrow, Ernest Fraenkel, Vivianna M.Van Deerlin, Edward B. Lee, Ximena Arcila-Londono, Zachary Simmons, James R. Broach, Han I. Wang, Dhruv Sareen, Justin Kwan, Matthew B. Harms, Timothy J. Aitman, Javier Santoyo-Lopez, Edward Tobias, Mary Porteous, Zosia Miedzybrodzka, Ruth McGowan, Jonathan Berg, Nicola Williams, Hiroshi Mitsumoto, Agnes Koczon-Jaremko, Jinsy A. Andrews, Jeremy M. Shefner, Sharon P. Nations, 2024, BMC Genomics

Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data

Sara Saez-Atienzar, Cleide dos Santos Souza, Ruth Chia, Selina N. Beal, Ileana Lorenzini, Ruili Huang, Jennifer Levy, Camelia Burciu, Jinhui Ding, J. Raphael Gibbs, Ashley Jones, Ramita Dewan, Viviana Pensato, Silvia Peverelli, Lucia Corrado, Joke J.F.A. van Vugt, Wouter van Rheenen, Ceren Tunca, Elif Bayraktar, Menghang Xia, Robert H. Baloh, Robert Bowser, Christopher B. Brady, Alexis Brice, James Broach, William Camu, Adriano Chio, John Cooper-Knock, Daniele Cusi, Carsten Drepper, Vivian E. Drory, Travis L. Dunckley, Eva Feldman, Mary Kay Floeter, Pietro Fratta, Glenn Gerhard, Summer B. Gibson, Jonathan D. Glass, Stephen A. Goutman, John Hardy, Matthew B. Harms, Terry D. Heiman-Patterson, Lilja Jansson, Janine Kirby, Hannu Laaksovirta, John E. Landers, Francesco Landi, Isabelle Le Ber, Serge Lumbroso, Zachary Simmons, 2024, Cell Genomics

Mitochondrial genome variants associated with amyotrophic lateral sclerosis and their haplogroup distribution

Marcelo R.S. Briones, João H. Campos, Renata C. Ferreira, Lisa Schneper, Ilda M. Santos, Fernando M. Antoneli, James R. Broach, 2024, Muscle and Nerve on p. 862-872

Comparative Transcriptome Analysis of Industrial and Laboratory Saccharomyces cerevisiae Strains after Sequential Stresses

Ane Catarine Tosi Costa, Lisa Schneper, Mariano Russo, A. Alberto R. Fernandes, James R. Broach, Patricia M.B. Fernandes, 2024, Fermentation

Correction to: TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A (Nature, (2022), 603, 7899, (131-137), 10.1038/s41586-022-04436-3)

Anna Leigh Brown, Oscar G. Wilkins, Matthew J. Keuss, Sarah E. Hill, Matteo Zanovello, Weaverly Colleen Lee, Alexander Bampton, Flora C.Y. Lee, Laura Masino, Yue A. Qi, Sam Bryce-Smith, Ariana Gatt, Martina Hallegger, Delphine Fagegaltier, Hemali Phatnani, Jia Newcombe, Emil K. Gustavsson, Sahba Seddighi, Joel F. Reyes, Steven L. Coon, Daniel Ramos, Giampietro Schiavo, Elizabeth M.C. Fisher, Towfique Raj, Maria Secrier, Tammaryn Lashley, Jernej Ule, Emanuele Buratti, Jack Humphrey, Michael E. Ward, Pietro Fratta, Hemali Phatnani, Justin Kwan, Dhruv Sareen, James R. Broach, Zachary Simmons, Ximena Arcila-Londono, Edward B. Lee, Vivianna M. Van Deerlin, Neil A. Shneider, Ernest Fraenkel, Lyle W. Ostrow, Frank Baas, Noah Zaitlen, James D. Berry, Andrea Malaspina, Pietro Fratta, Gregory A. Cox, Leslie M. Thompson, Mary Poss, 2024, Nature on p. E7

Convergent Mutations and Single Nucleotide Variants in Mitochondrial Genomes of Modern Humans and Neanderthals

Renata C. Ferreira, Camila R. Rodrigues, James R. Broach, Marcelo R.S. Briones, 2024, International Journal of Molecular Sciences

Integrating Optical Genome Mapping and Whole Genome Sequencing in Somatic Structural Variant Detection

Laura Budurlean, Diwakar Bastihalli Tukaramrao, Lijun Zhang, Sinisa Dovat, James Broach, 2024, Journal of Personalized Medicine

Most-Cited Papers

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Aude Nicolas, Kevin P. Kenna, Alan E. Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A. Dominov, Brendan J. Kenna, Mike A. Nalls, Pamela Keagle, Alberto M. Rivera, Wouter van Rheenen, Natalie A. Murphy, Joke J.F.A. van Vugt, Joshua T. Geiger, Rick A. Van der Spek, Hannah A. Pliner, Shankaracharya, Bradley N. Smith, Giuseppe Marangi, Simon D. Topp, Yevgeniya Abramzon, Athina Soragia Gkazi, John D. Eicher, Aoife Kenna, Francesco O. Logullo, Isabella L. Simone, Giancarlo Logroscino, Fabrizio Salvi, Ilaria Bartolomei, Giuseppe Borghero, Maria Rita Murru, Emanuela Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Francesco Marrosu, Maria Giovanna Marrosu, Gianluca Floris, Antonino Cannas, Margherita Capasso, Claudia Caponnetto, Zachary Simmons, James Broach, 2018, Neuron on p. 1268-1283.e6

Integrative detection and analysis of structural variation in cancer genomes

Jesse R. Dixon, Jie Xu, Vishnu Dileep, Ye Zhan, Fan Song, Victoria T. Le, Galip Gürkan Yardımcı, Abhijit Chakraborty, Darrin V. Bann, Yanli Wang, Royden Clark, Lijun Zhang, Hongbo Yang, Tingting Liu, Sriranga Iyyanki, Lin An, Christopher Pool, Takayo Sasaki, Juan Carlos Rivera-Mulia, Hakan Ozadam, Bryan R. Lajoie, Rajinder Kaul, Michael Buckley, Kristen Lee, Morgan Diegel, Dubravka Pezic, Christina Ernst, Suzana Hadjur, Duncan T. Odom, John A. Stamatoyannopoulos, James R. Broach, Ross C. Hardison, Ferhat Ay, William Stafford Noble, Job Dekker, David M. Gilbert, Feng Yue, 2018, Nature Genetics on p. 1388-1398

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

Anna Leigh Brown, Oscar G. Wilkins, Matthew J. Keuss, Sarah E. Hill, Matteo Zanovello, Weaverly Colleen Lee, Alexander Bampton, Flora C.Y. Lee, Laura Masino, Yue A. Qi, Sam Bryce-Smith, Ariana Gatt, Martina Hallegger, Delphine Fagegaltier, Hemali Phatnani, Hemali Phatnani, Justin Kwan, Dhruv Sareen, James R. Broach, Zachary Simmons, Ximena Arcila-Londono, Edward B. Lee, Vivianna M. Van Deerlin, Neil A. Shneider, Ernest Fraenkel, Lyle W. Ostrow, Frank Baas, Noah Zaitlen, James D. Berry, Andrea Malaspina, Pietro Fratta, Gregory A. Cox, Leslie M. Thompson, Steve Finkbeiner, Efthimios Dardiotis, Timothy M. Miller, Siddharthan Chandran, Suvankar Pal, Eran Hornstein, Daniel J. MacGowan, Terry Heiman-Patterson, Molly G. Hammell, Nikolaos A. Patsopoulos, Oleg Butovsky, Joshua Dubnau, Avindra Nath, Robert Bowser, Matthew Harms, Eleonora Aronica, Mary Poss, 2022, Nature on p. 131-137

Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia

Oliver H. Tam, Nikolay V. Rozhkov, Regina Shaw, Duyang Kim, Isabel Hubbard, Samantha Fennessey, Nadia Propp, Hemali Phatnani, Justin Kwan, Dhruv Sareen, James R. Broach, Zachary Simmons, Ximena Arcila-Londono, Edward B. Lee, Vivianna M. Van Deerlin, Neil A. Shneider, Ernest Fraenkel, Lyle W. Ostrow, Frank Baas, Noah Zaitlen, James D. Berry, Andrea Malaspina, Pietro Fratta, Gregory A. Cox, Leslie M. Thompson, Steve Finkbeiner, Efthimios Dardiotis, Timothy M. Miller, Siddharthan Chandran, Suvankar Pal, Eran Hornstein, Daniel J. MacGowan, Terry Heiman-Patterson, Molly G. Hammell, Nikolaos A. Patsopoulos, Oleg Butovsky, Joshua Dubnau, Avindra Nath, Robert Bowser, Matt Harms, Eleonora Aronica, Mary Poss, Jennifer Phillips-Cremins, John Crary, Nazem Atassi, Dale J. Lange, Darius J. Adams, Leonidas Stefanis, Marc Gotkine, Robert Baloh, 2019, Cell Reports on p. 1164-1177.e5

Congenital Cytomegalovirus Infection Burden and Epidemiologic Risk Factors in Countries with Universal Screening: A Systematic Review and Meta-analysis

Paddy Ssentongo, Christine Hehnly, Patricia Birungi, Mikayla A. Roach, Jada Spady, Claudio Fronterre, Ming Wang, Laura E. Murray-Kolb, Laila Al-Shaar, Vernon M. Chinchilli, James R. Broach, Jessica E. Ericson, Steven J. Schiff, 2021, JAMA network open on p. E2120736

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

Sara Bandres-Ciga, Alastair J. Noyce, Gibran Hemani, Aude Nicolas, Andrea Calvo, Gabriele Mora, Alessandro Arosio, Marco Barberis, Ilaria Bartolomei, Stefania Battistini, Michele Benigni, Giuseppe Borghero, Maura Brunetti, Stefania Cammarosano, Antonino Cannas, Antonio Canosa, Margherita Capasso, Claudia Caponnetto, Carla Caredda, Paola Carrera, Federico Casale, Sebastiano Cavallaro, Adriano Chiò, Tiziana Colletti, Francesca L. Conforti, Amelia Conte, Lucia Corrado, Emanuela Costantino, Sandra D'Alfonso, Antonio Fasano, Cinzia Femiano, Carlo Ferrarese, Nicola Fini, Gianluca Floris, Giuseppe Fuda, Fabio Giannini, Maurizio Grassano, Antonio Ilardi, Vincenzo La Bella, Serena Lattante, Giancarlo Logroscino, Francesco O. Logullo, Daniela Loi, Christian Lunetta, Gianluigi Mancardi, Paola Mandich, Jessica Mandrioli, Umberto Manera, James Broach, Zachary Simmons, 2019, Annals of Neurology on p. 470-481

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

Sheng Chih Jin, Weilai Dong, Adam J. Kundishora, Shreyas Panchagnula, Andres Moreno-De-Luca, Charuta G. Furey, August A. Allocco, Rebecca L. Walker, Carol Nelson-Williams, Hannah Smith, Ashley Dunbar, Sierra Conine, Qiongshi Lu, Xue Zeng, Michael C. Sierant, James R. Knight, William Sullivan, Phan Q. Duy, Tyrone DeSpenza, Benjamin C. Reeves, Jason K. Karimy, Arnaud Marlier, Christopher Castaldi, Irina R. Tikhonova, Boyang Li, Helena Perez Peña, James R. Broach, Edith M. Kabachelor, Peter Ssenyonga, Christine Hehnly, Li Ge, Boris Keren, Andrew T. Timberlake, June Goto, Francesco T. Mangano, James M. Johnston, William E. Butler, Benjamin C. Warf, Edward R. Smith, Steven J. Schiff, David D. Limbrick, Gregory Heuer, Eric M. Jackson, Bermans J. Iskandar, Shrikant Mane, Shozeb Haider, Bulent Guclu, Yasar Bayri, Yener Sahin, Charles C. Duncan, Michael L.J. Apuzzo, Michael L. DiLuna, Ellen J. Hoffman, Nenad Sestan, Laura R. Ment, Seth L. Alper, Kaya Bilguvar, Daniel H. Geschwind, Murat Günel, Richard P. Lifton, Kristopher T. Kahle, 2020, Nature Medicine on p. 1754-1765

Subtype-specific 3D genome alteration in acute myeloid leukaemia

J Xu, Fan Song, Huijue Lyu, Mikoto Kobayashi, Baozhen Zhang, Ziyu Zhao, Ye Hou, Xiaotao Wang, Yu Luan, Bei Jia, Lena Stasiak, Josiah Wong, Qixuan Wang, Qi Jin, Qiushi Jin, Yihao Fu, Hongbo Yang, Ross C. Hardison, Sinisa Dovat, Leonidas Platanias, Yarui Diao, Yue Yang, Tomoko Yamada, Aaron Viny, Ross Levine, David Claxton, James R. Broach, Hong Zheng, Feng Yue, 2022, Nature on p. 387-398

An integrative ENCODE resource for cancer genomics

Jing Zhang, Donghoon Lee, Vineet Dhiman, Peng Jiang, Jie Xu, Patrick McGillivray, Hongbo Yang, Jason Liu, William Meyerson, Declan Clarke, Mengting Gu, Shantao Li, Shaoke Lou, Jinrui Xu, Lucas Lochovsky, Matthew Ung, Lijia Ma, Shan Yu, Qin Cao, Arif Harmanci, Koon Kiu Yan, Anurag Sethi, Gamze Gürsoy, Michael Rutenberg Schoenberg, Joel Rozowsky, Jonathan Warrell, Prashant Emani, Yucheng T. Yang, Timur Galeev, Xiangmeng Kong, Shuang Liu, Xiaotong Li, Jayanth Krishnan, Yanlin Feng, Juan Carlos Rivera-Mulia, Jessica Adrian, James R. Broach, Michael Bolt, Jennifer Moran, Dominic Fitzgerald, Vishnu Dileep, Tingting Liu, Shenglin Mei, Takayo Sasaki, Claudia Trevilla-Garcia, Su Wang, Yanli Wang, Chongzhi Zang, Daifeng Wang, Robert J. Klein, Michael Snyder, David M. Gilbert, Kevin Yip, Chao Cheng, Feng Yue, X. Shirley Liu, Kevin P. White, Mark Gerstein, 2020, Nature Communications

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Ramita Dewan, Ruth Chia, Jinhui Ding, Richard A. Hickman, Thor D. Stein, Yevgeniya Abramzon, Sarah Ahmed, Marya S. Sabir, Makayla K. Portley, Arianna Tucci, Kristina Ibáñez, F. N.U. Shankaracharya, Pamela Keagle, Giacomina Rossi, Paola Caroppo, Fabrizio Tagliavini, Maria L. Waldo, Per M. Johansson, Christer F. Nilsson, Adelani Adeleye, Camille Alba, Dagmar Bacikova, Daniel N. Hupalo, Elisa Mc Grath Martinez, Harvey B. Pollard, Gauthaman Sukumar, Anthony R. Soltis, Meila Tuck, Xijun Zhang, Matthew D. Wilkerson, Bradley N. Smith, Nicola Ticozzi, Claudia Fallini, Athina Soragia Gkazi, Simon D. Topp, Jason Kost, Emma L. Scotter, Kevin P. Kenna, Jack W. Miller, Cinzia Tiloca, Caroline Vance, Eric W. Danielson, Claire Troakes, Claudia Colombrita, Safa Al-Sarraj, Elizabeth A. Lewis, Andrew King, Daniela Calini, Zachary Simmons, James R. Broach, 2021, Neuron on p. 448-460.e4