Pan‐cancer RNA‐seq data stratifies tumours by some hallmarks of cancer

por Frost, F. Graeme, Cherukuri, Praveen F., Milanovich, Samuel, Boerkoel, Cornelius F.
Publicado 2019

Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data

por Cherukuri, Praveen F., Maduro, Valerie, Fuentes-Fajardo, Karin V., Lam, Kevin, Adams, David R., Tifft, Cynthia J., Mullikin, James C., Gahl, William A., Boerkoel, Cornelius F.
Publicado 2015

Sequence Diversity of Pan troglodytes Subspecies and the Impact of WFDC6 Selective Constraints in Reproductive Immunity

por Ferreira, Zélia, Hurle, Belen, Andrés, Aida M., Kretzschmar, Warren W., Mullikin, James C., Cherukuri, Praveen F., Cruz, Pedro, Gonder, Mary Katherine, Stone, Anne C., Tishkoff, Sarah, Swanson, Willie J., Green, Eric D., Clark, Andrew G., Seixas, Susana
Publicado 2013

Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets

por Cherukuri, Praveen F., Soe, Melissa M., Condon, David E., Bartaria, Shubhi, Meis, Kaitlynn, Gu, Shaopeng, Frost, Frederick G., Fricke, Lindsay M., Lubieniecki, Krzysztof P., Lubieniecka, Joanna M., Pyatt, Robert E., Hajek, Catherine, Boerkoel, Cornelius F., Carmichael, Lynn
Publicado 2022

Gene-Based Sequencing Identifies Lipid-Influencing Variants with Ethnicity-Specific Effects in African Americans

por Bentley, Amy R., Chen, Guanjie, Shriner, Daniel, Doumatey, Ayo P., Zhou, Jie, Huang, Hanxia, Mullikin, James C., Blakesley, Robert W., Hansen, Nancy F., Bouffard, Gerard G., Cherukuri, Praveen F., Maskeri, Baishali, Young, Alice C., Adeyemo, Adebowale, Rotimi, Charles N.
Publicado 2014

Correction: Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

por Pierson, Tyler Mark, Adams, David, Bonn, Florian, Martinelli, Paola, Cherukuri, Praveen F., Teer, Jamie K., Hansen, Nancy F., Cruz, Pedro, Mullikin, James C., Blakesley, Robert W., Golas, Gretchen, Kwan, Justin, Sandler, Anthony, Fuentes Fajardo, Karin, Markello, Thomas, Tifft, Cynthia, Blackstone, Craig, Rugarli, Elena I., Langer, Thomas, Gahl, William A., Toro, Camilo
Publicado 2013

Identification of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell lines

por Sen, Shurjo K, Barb, Jennifer J, Cherukuri, Praveen F, Accame, David S, Elkahloun, Abdel G, Singh, Larry N, Lee-Lin, Shih-Queen, Program, NISC Comparative Sequencing, Kolodgie, Frank D, Cheng, Qi, Zhao, XiaoQing, Chen, Marcus Y, Arai, Andrew E, Green, Eric D, Mullikin, James C, Munson, Peter J, Biesecker, Leslie G
Publicado 2014

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

por Pierson, Tyler Mark, Adams, David, Bonn, Florian, Martinelli, Paola, Cherukuri, Praveen F., Teer, Jamie K., Hansen, Nancy F., Cruz, Pedro, Mullikin for the NISC Comparative Sequencing Program, James C., Blakesley, Robert W., Golas, Gretchen, Kwan, Justin, Sandler, Anthony, Fuentes Fajardo, Karin, Markello, Thomas, Tifft, Cynthia, Blackstone, Craig, Rugarli, Elena I., Langer, Thomas, Gahl, William A., Toro, Camilo
Publicado 2011

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

por Maduro, Valerie, Pusey, Barbara N., Cherukuri, Praveen F., Atkins, Paul, du Souich, Christèle, Rupps, Rosemarie, Limbos, Marjolaine, Adams, David R., Bhatt, Samarth S., Eydoux, Patrice, Links, Amanda E., Lehman, Anna, Malicdan, May C., Mason, Christopher E., Morimoto, Marie, Mullikin, James C., Sear, Andrew, Van Karnebeek, Clara, Stankiewicz, Pawel, Gahl, William A., Toro, Camilo, Boerkoel, Cornelius F.
Publicado 2016

Sequencing of Candidate Chromosome Instability Genes in Endometrial Cancers Reveals Somatic Mutations in ESCO1, CHTF18, and MRE11A

por Price, Jessica C., Pollock, Lana M., Rudd, Meghan L., Fogoros, Sarah K., Mohamed, Hassan, Hanigan, Christin L., Le Gallo, Matthieu, Program, NIH Intramural Sequencing Center (NISC) Comparative Sequencing, Zhang, Suiyuan, Cruz, Pedro, Cherukuri, Praveen F., Hansen, Nancy F., McManus, Kirk J., Godwin, Andrew K., Sgroi, Dennis C., Mullikin, James C., Merino, Maria J., Hieter, Philip, Bell, Daphne W.
Publicado 2013

CDD: a Conserved Domain Database for protein classification

por Marchler-Bauer, Aron, Anderson, John B., Cherukuri, Praveen F., DeWeese-Scott, Carol, Geer, Lewis Y., Gwadz, Marc, He, Siqian, Hurwitz, David I., Jackson, John D., Ke, Zhaoxi, Lanczycki, Christopher J., Liebert, Cynthia A., Liu, Chunlei, Lu, Fu, Marchler, Gabriele H., Mullokandov, Mikhail, Shoemaker, Benjamin A., Simonyan, Vahan, Song, James S., Thiessen, Paul A., Yamashita, Roxanne A., Yin, Jodie J., Zhang, Dachuan, Bryant, Stephen H.
Publicado 2005

Predisposition to Cancer Caused by Genetic and Functional Defects of Mammalian Atad5

por Bell, Daphne W., Sikdar, Nilabja, Lee, Kyoo-young, Price, Jessica C., Chatterjee, Raghunath, Park, Hee-Dong, Fox, Jennifer, Ishiai, Masamichi, Rudd, Meghan L., Pollock, Lana M., Fogoros, Sarah K., Mohamed, Hassan, Hanigan, Christin L., Zhang, Suiyuan, Cruz, Pedro, Renaud, Gabriel, Hansen, Nancy F., Cherukuri, Praveen F., Borate, Bhavesh, McManus, Kirk J., Stoepel, Jan, Sipahimalani, Payal, Godwin, Andrew K., Sgroi, Dennis C., Merino, Maria J., Elliot, Gene, Elkahloun, Abdel, Vinson, Charles, Takata, Minoru, Mullikin, James C., Wolfsberg, Tyra G., Hieter, Philip, Lim, Dae-Sik, Myung, Kyungjae
Publicado 2011

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

por Davis, Erica E., Zhang, Qi, Liu, Qin, Diplas, Bill H., Davey, Lisa M., Hartley, Jane, Stoetzel, Corinne, Szymanska, Katarzyna, Ramaswami, Gokul, Logan, Clare V., Muzny, Donna M., Young, Alice C., Wheeler, David A., Cruz, Pedro, Morgan, Margaret, Lewis, Lora R., Cherukuri, Praveen, Maskeri, Baishali, Hansen, Nancy F., Mullikin, James C., Blakesley, Robert W., Bouffard, Gerard G., Gyapay, Gabor, Reiger, Susanne, Tönshoff, Burkhard, Kern, Ilse, Soliman, Neveen A., Neuhaus, Thomas J., Swoboda, Kathryn J., Kayserili, Hulya, Gallagher, Tomas E., Lewis, Richard A., Bergmann, Carsten, Otto, Edgar A., Saunier, Sophie, Scambler, Peter J., Beales, Philip L., Gleeson, Joseph G., Maher, Eamonn R., Attié-Bitach, Tania, Dollfus, Hélène, Johnson, Colin A., Green, Eric D., Gibbs, Richard A., Hildebrandt, Friedhelm, Pierce, Eric A., Katsanis, Nicholas
Publicado 2011