James Broach

Distinguished Professor and Chair of Biochemistry and Molecular Biology

James Broach

Huck Affiliations

Links

Most Recent Publications

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

Identification of gene fusions associated with amyotrophic lateral sclerosis

Yogindra Raghav, Allison A. Dilliott, Tiziana Petrozziello, Spencer E. Kim, James D. Berry, Merit E. Cudkowicz, Khashayar Vakili, Ernest Fraenkel, Sali M.K. Farhan, Ghazaleh Sadri-Vakili, 2024, Muscle and Nerve on p. 477-489

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

Gut microbiome dynamics and associations with mortality in critically ill patients

Tarik J. Salameh, Katharine Roth, Lisa Schultz, Zhexi Ma, Anthony S. Bonavia, James R. Broach, Bin Hu, Judie A. Howrylak, 2023, Gut Pathogens

Neonatal Paenibacilliosis: Paenibacillus Infection as a Novel Cause of Sepsis in Term Neonates With High Risk of Sequelae in Uganda

Jessica E. Ericson, Kathy Burgoine, Elias Kumbakumba, Moses Ochora, Christine Hehnly, Francis Bajunirwe, Joel Bazira, Claudio Fronterre, Cornelia Hagmann, Abhaya V. Kulkarni, M. Senthil Kumar, Joshua Magombe, Edith Mbabazi-Kabachelor, Sarah U. Morton, Mercedeh Movassagh, John Mugamba, Ronald Mulondo, Davis Natukwatsa, Brian Nsubuga Kaaya, Peter Olupot-Olupot, Justin Onen, Kathryn Sheldon, Jasmine Smith, Paddy Ssentongo, Peter Ssenyonga, Benjamin Warf, Emmanuel Wegoye, Lijun Zhang, Julius Kiwanuka, Joseph N. Paulson, James R. Broach, Steven J. Schiff, 2023, Clinical Infectious Diseases on p. 768-775

Optical genome mapping in acute myeloid leukemia: a multicenter evaluation

Brynn Levy, Linda B. Baughn, Yassmine Akkari, Scott Chartrand, Brandon LaBarge, David Claxton, P. Alan Lennon, Claudia Cujar, Ravindra Kolhe, Kate Kroeger, Beth Pitel, Nikhil Sahajpal, Malini Sathanoori, George Vlad, Lijun Zhang, Min Fang, Rashmi Kanagal-Shamanna, James R. Broach, 2023, Blood advances on p. 1297-1307

Paenibacillus spp infection among infants with postinfectious hydrocephalus in Uganda: an observational case-control study

Sarah U. Morton, Christine Hehnly, Kathy Burgoine, Paddy Ssentongo, Jessica E. Ericson, M. Senthil Kumar, Cornelia Hagmann, Claudio Fronterre, Jasmine Smith, Mercedeh Movassagh, Nicholas Streck, Lisa M. Bebell, Joel Bazira, Elias Kumbakumba, Francis Bajunirwe, Ronald Mulondo, Edith Mbabazi-Kabachelor, Brian K. Nsubuga, Davis Natukwatsa, Esther Nalule, Joshua Magombe, Tim Erickson, Joseph Ngonzi, Moses Ochora, Peter Olupot-Olupot, Justin Onen, Peter Ssenyonga, John Mugamba, Benjamin C. Warf, Abhaya V. Kulkarni, Jessica Lane, Andrew J. Whalen, Lijun Zhang, Kathryn Sheldon, Frederick A. Meier, Julius Kiwanuka, James R. Broach, Joseph N. Paulson, Steven J. Schiff, 2023, The Lancet Microbe on p. e601-e611

Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias

Karri Kaivola, Ruth Chia, Jinhui Ding, Memoona Rasheed, Masashi Fujita, Vilas Menon, Ronald L. Walton, Ryan L. Collins, Kimberley Billingsley, Harrison Brand, Michael Talkowski, Xuefang Zhao, Ramita Dewan, Ali Stark, Anindita Ray, Sultana Solaiman, Pilar Alvarez Jerez, Laksh Malik, Ted M. Dawson, Liana S. Rosenthal, Marilyn S. Albert, Olga Pletnikova, Juan C. Troncoso, Mario Masellis, Julia Keith, Sandra E. Black, Luigi Ferrucci, Susan M. Resnick, Toshiko Tanaka, Anthony R. Soltis, Coralie Viollet, Gauthaman Sukumar, Camille Alba, Nathaniel Lott, Elisa McGrath Martinez, Meila Tuck, Jatinder Singh, Dagmar Bacikova, Xijun Zhang, Daniel N. Hupalo, Adelani Adeleye, Matthew D. Wilkerson, Harvey B. Pollard, Clifton L. Dalgard, Ziv Gan-Or, Ekaterina Rogaeva, Alexis Brice, Suzanne Lesage, James Broach, Zachary Simmons, 2023, Cell Genomics

Infection diagnosis in hydrocephalus CT images: a domain enriched attention learning approach

Mingzhao Yu, Mallory R. Peterson, Venkateswararao Cherukuri, Christine Hehnly, Edith Mbabazi-Kabachelor, Ronnie Mulondo, Brian Nsubuga Kaaya, James R. Broach, Steven J. Schiff, Vishal Monga, 2023, Journal of Neural Engineering

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

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

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

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

Genetic heterogeneity of amyotrophic lateral sclerosis: Implications for clinical practice and research

Xiaowei W. Su, James Broach, James Connor, Glenn S. Gerhard, Zachary Simmons, 2014, Muscle and Nerve on p. 786-803

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