Single Nucleotide Polymorphism–Based Validation of Exonic Splicing Enhancers

por Fairbrother, William G, Holste, Dirk, Burge, Christopher B, Sharp, Phillip A
Publicado 2004

Hotspot exons are common targets of splicing perturbations

por Glidden, David T., Buerer, Jeramiah L., Saueressig, Camillo F., Fairbrother, William G.
Publicado 2021

RNA-Binding Proteins: Splicing Factors and Disease

por Fredericks, Alger M., Cygan, Kamil J., Brown, Brian A., Fairbrother, William G.
Publicado 2015

Large-scale analysis of branchpoint usage across species and cell lines

por Taggart, Allison J., Lin, Chien-Ling, Shrestha, Barsha, Heintzelman, Claire, Kim, Seongwon, Fairbrother, William G.
Publicado 2017

Mutational bias and the protein code shape the evolution of splicing enhancers

por Rong, Stephen, Buerer, Luke, Rhine, Christy L., Wang, Jing, Cygan, Kamil J., Fairbrother, William G.
Publicado 2020

Hereditary cancer genes are highly susceptible to splicing mutations

por Rhine, Christy L., Cygan, Kamil J., Soemedi, Rachel, Maguire, Samantha, Murray, Michael F., Monaghan, Sean F., Fairbrother, William G.
Publicado 2018

MMSplice: modular modeling improves the predictions of genetic variant effects on splicing

por Cheng, Jun, Nguyen, Thi Yen Duong, Cygan, Kamil J., Çelik, Muhammed Hasan, Fairbrother, William G., Avsec, žiga, Gagneur, Julien
Publicado 2019

Soluble programmed cell death receptor-1 (sPD-1): a potential biomarker with anti-inflammatory properties in human and experimental acute respiratory distress syndrome (ARDS)

por Monaghan, Sean F., Chung, Chun-Shiang, Chen, Yaping, Lomas-Neira, Joanne, Fairbrother, William G., Heffernan, Daithi S., Cioffi, William G., Ayala, Alfred
Publicado 2016

Widespread intra-dependencies in the removal of introns from human transcripts

por Kim, Seong Won, Taggart, Allison J., Heintzelman, Claire, Cygan, Kamil J., Hull, Caitlin G., Wang, Jing, Shrestha, Barsha, Fairbrother, William G.
Publicado 2017

Large-scale functional screen identifies genetic variants with splicing effects in modern and archaic humans

por Rong, Stephen, Neil, Christopher R., Welch, Anastasia, Duan, Chaorui, Maguire, Samantha, Meremikwu, Ijeoma C., Meyerson, Malcolm, Evans, Ben J., Fairbrother, William G.
Publicado 2023

RNA structure replaces the need for U2AF2 in splicing

por Lin, Chien-Ling, Taggart, Allison J., Lim, Kian Huat, Cygan, Kamil J., Ferraris, Luciana, Creton, Robbert, Huang, Yen-Tsung, Fairbrother, William G.
Publicado 2016

Efficient Detection of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) from Exhaled Breath

por Duan, Chaorui, Buerer, Luke, Wang, Jing, Kaplan, Samuel, Sabalewski, Gavin, Jay, Gregory D., Monaghan, Sean F., Arena, Andrea E., Fairbrother, William G.
Publicado 2021

Pathogenic variants that alter protein code often disrupt splicing

por Soemedi, Rachel, Cygan, Kamil J., Rhine, Christy L., Wang, Jing, Bulacan, Charlston, Yang, John, Bayrak-Toydemir, Pinar, McDonald, Jamie, Fairbrother, William G.
Publicado 2017

Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes

por Rhine, Christy L., Neil, Christopher, Wang, Jing, Maguire, Samantha, Buerer, Luke, Salomon, Mitchell, Meremikwu, Ijeoma C., Kim, Juliana, Strande, Natasha T., Fairbrother, William G.
Publicado 2022

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes

por Wang, Zishan, Fan, Xiao, Shen, Yufeng, Pagadala, Meghana S, Signer, Rebecca, Cygan, Kamil J., Fairbrother, William G., Carter, Hannah, Chung, Wendy K., Huang, Kuan-lin
Publicado 2021

Metal content and kinetic properties of yeast RNA lariat debranching enzyme Dbr1

por Clark, Nathaniel E., Katolik, Adam, Taggart, Allison J., Buerer, Luke, Holloway, Stephen P., Miller, Nathaniel, Phillips, John D., Farrell, Colin P., Damha, Masad J., Fairbrother, William G.
Publicado 2022

Changes in the process of alternative RNA splicing results in soluble B and T lymphocyte attenuator with biological and clinical implications in critical illness

por Monaghan, Sean F., Banerjee, Debasree, Chung, Chun-Shiang, Lomas-Neira, Joanne, Cygan, Kamil J., Rhine, Christy L., Fairbrother, William G., Heffernan, Daithi S., Levy, Mitchell M., Cioffi, William G., Ayala, Alfred
Publicado 2018

Deep RNA sequencing of intensive care unit patients with COVID-19

por Fredericks, Alger M., Jentzsch, Maximilian S., Cioffi, William G., Cohen, Maya, Fairbrother, William G., Gandhi, Shivam J., Harrington, Elizabeth O., Nau, Gerard J., Reichner, Jonathan S., Ventetuolo, Corey E., Levy, Mitchell M., Ayala, Alfred, Monaghan, Sean F.
Publicado 2022

The debranching enzyme Dbr1 regulates lariat turnover and intron splicing

por Buerer, Luke, Clark, Nathaniel E., Welch, Anastasia, Duan, Chaorui, Taggart, Allison J., Townley, Brittany A., Wang, Jing, Soemedi, Rachel, Rong, Stephen, Lin, Chien-Ling, Zeng, Yi, Katolik, Adam, Staley, Jonathan P., Damha, Masad J., Mosammaparast, Nima, Fairbrother, William G.
Publicado 2023

Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain

por Clark, Nathaniel E., Katolik, Adam, Gallant, Pascal, Welch, Anastasia, Murphy, Eileen, Buerer, Luke, Schorl, Christoph, Naik, Nandita, Naik, Mandar T., Holloway, Stephen P., Cano, Kristin, Weintraub, Susan T., Howard, Katherine M., Hart, P. John, Jogl, Gerwald, Damha, Masad J., Fairbrother, William G.
Publicado 2023