Benchmarking splice variant prediction algorithms using massively parallel splicing assays

por Smith, Cathy, Kitzman, Jacob O.
Publicado 2023

SOX10-regulated promoter use defines isoform-specific gene expression in Schwann cells

por Fogarty, Elizabeth A., Kitzman, Jacob O., Antonellis, Anthony
Publicado 2020

Adaptive Gene Amplification As an Intermediate Step in the Expansion of Virus Host Range

por Brennan, Greg, Kitzman, Jacob O., Rothenburg, Stefan, Shendure, Jay, Geballe, Adam P.
Publicado 2014

Massively Parallel Single Amino Acid Mutagenesis

por Kitzman, Jacob O., Starita, Lea M., Lo, Russell S., Fields, Stanley, Shendure, Jay
Publicado 2015

Gene amplification acts as a molecular foothold to facilitate cross-species adaptation and evasion of multiple antiviral pathways

por Banerjee, Shefali, Smith, Cathy, Geballe, Adam, Rothenburg, Stefan, Kitzman, Jacob O., Brennan, Greg
Publicado 2022

Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome

por Scott, Anthony, Hernandez, Felicia, Chamberlin, Adam, Smith, Cathy, Karam, Rachid, Kitzman, Jacob O.
Publicado 2022

Gene amplification acts as a molecular foothold to facilitate cross-species adaptation and evasion of multiple antiviral pathways

por Banerjee, Shefali, Smith, Cathy, Geballe, Adam P, Rothenburg, Stefan, Kitzman, Jacob O, Brennan, Greg
Publicado 2022

High-Throughput Splicing Assays Identify Known and Novel WT1 Exon 9 Variants in Nephrotic Syndrome

por Smith, Cathy, Burugula, Bala Bharathi, Dunn, Ian, Aradhya, Swaroop, Kitzman, Jacob O., Yee, Jennifer Lai
Publicado 2023

Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk

por Jia, Xiaoyan, Burugula, Bala Bharathi, Chen, Victor, Lemons, Rosemary M., Jayakody, Sajini, Maksutova, Mariam, Kitzman, Jacob O.
Publicado 2021

Chromatin information content landscapes inform transcription factor and DNA interactions

por D’Oliveira Albanus, Ricardo, Kyono, Yasuhiro, Hensley, John, Varshney, Arushi, Orchard, Peter, Kitzman, Jacob O., Parker, Stephen C. J.
Publicado 2021

The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line

por Adey, Andrew, Burton, Joshua N., Kitzman, Jacob O., Hiatt, Joseph B., Lewis, Alexandra P., Martin, Beth K., Qiu, Ruolan, Lee, Choli, Shendure, Jay
Publicado 2013

Large-scale genomic sequencing of extraintestinal pathogenic Escherichia coli strains

por Salipante, Stephen J., Roach, David J., Kitzman, Jacob O., Snyder, Matthew W., Stackhouse, Bethany, Butler-Wu, Susan M., Lee, Choli, Cookson, Brad T., Shendure, Jay
Publicado 2015

In vitro, long-range sequence information for de novo genome assembly via transposase contiguity

por Adey, Andrew, Kitzman, Jacob O., Burton, Joshua N., Daza, Riza, Kumar, Akash, Christiansen, Lena, Ronaghi, Mostafa, Amini, Sasan, L. Gunderson, Kevin, Steemers, Frank J., Shendure, Jay
Publicado 2014

Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition

por Adey, Andrew, Morrison, Hilary G, Asan, Xun, Xu, Kitzman, Jacob O, Turner, Emily H, Stackhouse, Bethany, MacKenzie, Alexandra P, Caruccio, Nicholas C, Zhang, Xiuqing, Shendure, Jay
Publicado 2010

Fragment Length of Circulating Tumor DNA

por Underhill, Hunter R., Kitzman, Jacob O., Hellwig, Sabine, Welker, Noah C., Daza, Riza, Baker, Daniel N., Gligorich, Keith M., Rostomily, Robert C., Bronner, Mary P., Shendure, Jay
Publicado 2016

Whole genome prediction for preimplantation genetic diagnosis

por Kumar, Akash, Ryan, Allison, Kitzman, Jacob O, Wemmer, Nina, Snyder, Matthew W, Sigurjonsson, Styrmir, Lee, Choli, Banjevic, Milena, Zarutskie, Paul W, Lewis, Alexandra P, Shendure, Jay, Rabinowitz, Matthew
Publicado 2015

CRISPR knockout screen implicates three genes in lysosome function

por Lenk, Guy M., Park, Young N., Lemons, Rosemary, Flynn, Emma, Plank, Margaret, Frei, Christen M., Davis, Michael J., Gregorka, Brian, Swanson, Joel A., Meisler, Miriam H., Kitzman, Jacob O.
Publicado 2019

Personalized Copy-Number and Segmental Duplication Maps using Next-Generation Sequencing

por Alkan, Can, Kidd, Jeffrey M., Marques-Bonet, Tomas, Aksay, Gozde, Antonacci, Francesca, Hormozdiari, Fereydoun, Kitzman, Jacob O., Baker, Carl, Malig, Maika, Mutlu, Onur, Sahinalp, S. Cenk, Gibbs, Richard A., Eichler, Evan E.
Publicado 2009

A Transcription Start Site Map in Human Pancreatic Islets Reveals Functional Regulatory Signatures

por Varshney, Arushi, Kyono, Yasuhiro, Elangovan, Venkateswaran Ramamoorthi, Wang, Collin, Erdos, Michael R., Narisu, Narisu, Albanus, Ricardo D’Oliveira, Orchard, Peter, Stitzel, Michael L., Collins, Francis S., Kitzman, Jacob O., Parker, Stephen C.J.
Publicado 2021

GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway

por Zhang, Weichao, Yang, Xi, Li, Yingxiang, Yu, Linchen, Zhang, Bokai, Zhang, Jianchao, Cho, Woo Jung, Venkatarangan, Varsha, Chen, Liang, Burugula, Bala Bharathi, Bui, Sarah, Wang, Yanzhuang, Duan, Cunming, Kitzman, Jacob O., Li, Ming
Publicado 2022