Resultats de la cerca - Sabo, Aniko

Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability per Sabo, Aniko, Murdock, David, Dugan, Shannon, Meng, Qingchang, Gingras, Marie‐Claude, Hu, Jianhong, Muzny, Donna, Gibbs, Richard

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EAnnot: A genome annotation tool using experimental evidence per Ding, Li, Sabo, Aniko, Berkowicz, Nicolas, Meyer, Rekha R., Shotland, Yoram, Johnson, Mark R., Pepin, Kymberlie H., Wilson, Richard K., Spieth, John

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Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder per Chen, Chun-An, Pal, Rituraj, Yin, Jiani, Tao, Huifang, Amawi, Abdallah, Sabo, Aniko, Bainbridge, Matthew N, Gibbs, Richard A, Zoghbi, Huda Y, Schaaf, Christian P

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Genetic diversity in India and the inference of Eurasian population expansion per Xing, Jinchuan, Watkins, W Scott, Hu, Ya, Huff, Chad D, Sabo, Aniko, Muzny, Donna M, Bamshad, Michael J, Gibbs, Richard A, Jorde, Lynn B, Yu, Fuli

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Xia–Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition per Murdock, David R., Jiang, Yunyun, Wangler, Michael, Khayat, Michael M., Sabo, Aniko, Juusola, Jane, McWalter, Kirsty, Schatz, Krista Sondergaard, Gunay-Aygun, Meral, Gibbs, Richard A.

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Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders per Schaaf, Christian P., Sabo, Aniko, Sakai, Yasunari, Crosby, Jacy, Muzny, Donna, Hawes, Alicia, Lewis, Lora, Akbar, Humeira, Varghese, Robin, Boerwinkle, Eric, Gibbs, Richard A., Zoghbi, Huda Y.

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Exome sequencing reveals novel genetic loci influencing obesity related traits in Hispanic children per Sabo, Aniko, Mishra, Pamela, Dugan-Perez, Shannon, Voruganti, V. Saroja, Kent, Jack W., Kalra, Divya, Cole, Shelley A., Comuzzie, Anthony G., Muzny, Donna M., Gibbs, Richard A., Butte, Nancy F.

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A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay per Ozantürk, Ayşegül, Davis, Erica E., Sabo, Aniko, Weiss, Marjan M., Muzny, Donna, Dugan-Perez, Shannon, Sistermans, Erik A., Gibbs, Richard A., Özgül, Köksal R., Yalnızoglu, Dilek, Serdaroglu, Esra, Dursun, Ali, Katsanis, Nicholas

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Deep Resequencing and Association Analysis of Schizophrenia Candidate Genes per Crowley, James J., Hilliard, Christopher E., Kim, Yunjung, Morgan, Margaret B., Lewis, Lora R., Muzny, Donna M., Hawes, Alicia C., Sabo, Aniko, Wheeler, David A., Lieberman, Jeffrey A., Sullivan, Patrick F., Gibbs, Richard A.

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Exome variant discrepancies due to reference-genome differences per Li, He, Dawood, Moez, Khayat, Michael M., Farek, Jesse R., Jhangiani, Shalini N., Khan, Ziad M., Mitani, Tadahiro, Coban-Akdemir, Zeynep, Lupski, James R., Venner, Eric, Posey, Jennifer E., Sabo, Aniko, Gibbs, Richard A.

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Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant per Gingras, Marie-Claude, Sabo, Aniko, Cardenas, Maria, Rana, Abbas, Dhingra, Sadhna, Meng, Qingchang, Hu, Jianhong, Muzny, Donna M, Doddapaneni, Harshavardhan, Perez, Lesette, Korchina, Viktoriya, Nessner, Caitlin, Liu, Xiuping, Chao, Hsu, Goss, John, Gibbs, Richard A

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Whole Exome Sequencing Identifies Novel Genes for Fetal Hemoglobin Response to Hydroxyurea in Children with Sickle Cell Anemia per Sheehan, Vivien A., Crosby, Jacy R., Sabo, Aniko, Mortier, Nicole A., Howard, Thad A., Muzny, Donna M., Dugan-Perez, Shannon, Aygun, Banu, Nottage, Kerri A., Boerwinkle, Eric, Gibbs, Richard A., Ware, Russell E., Flanagan, Jonathan M.

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Exome Sequencing in Children with Clinically Suspected Maturity-Onset Diabetes of the Young (MODY) per Tosur, Mustafa, Soler-Alfonso, Claudia, Chan, Katie M, Khayat, Michael M, Jhangiani, Shalini N, Meng, Qingchang, Refaey, Ahmad, Muzny, Donna, Gibbs, Richard A, Murdock, David R, Posey, Jennifer E, Balasubramanyam, Ashok, Redondo, Maria J, Sabo, Aniko

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Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome per Lindstrand, Anna, Davis, Erica E., Carvalho, Claudia M.B., Pehlivan, Davut, Willer, Jason R., Tsai, I-Chun, Ramanathan, Subhadra, Zuppan, Craig, Sabo, Aniko, Muzny, Donna, Gibbs, Richard, Liu, Pengfei, Lewis, Richard A., Banin, Eyal, Lupski, James R., Clark, Robin, Katsanis, Nicholas

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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome per Lindstrand, Anna, Frangakis, Stephan, Carvalho, Claudia M.B., Richardson, Ellen B., McFadden, Kelsey A., Willer, Jason R., Pehlivan, Davut, Liu, Pengfei, Pediaditakis, Igor L., Sabo, Aniko, Lewis, Richard Alan, Banin, Eyal, Lupski, James R., Davis, Erica E., Katsanis, Nicholas

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Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia–Gibbs syndrome per Khayat, Michael M., Li, He, Chander, Varuna, Hu, Jianhong, Hansen, Adam W., Li, Shoudong, Traynelis, Josh, Shen, Hua, Weissenberger, George, Stossi, Fabio, Johnson, Hannah L., Lupski, James R., Posey, Jennifer E., Sabo, Aniko, Meng, Qingchang, Murdock, David R., Wangler, Michael, Gibbs, Richard A.

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Identification of genes subject to positive selection in uropathogenic strains of Escherichia coli: A comparative genomics approach per Chen, Swaine L., Hung, Chia-Seui, Xu, Jian, Reigstad, Christopher S., Magrini, Vincent, Sabo, Aniko, Blasiar, Darin, Bieri, Tamberlyn, Meyer, Rekha R., Ozersky, Philip, Armstrong, Jon R., Fulton, Robert S., Latreille, J. Phillip, Spieth, John, Hooton, Thomas M., Mardis, Elaine R., Hultgren, Scott J., Gordon, Jeffrey I.

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Neptune: An environment for the delivery of genomic medicine per Venner, Eric, Yi, Victoria, Murdock, David, Kalla, Sara E., Wu, Tsung-Jung, Sabo, Aniko, Li, Shoudong, Meng, Qingchang, Tian, Xia, Murugan, Mullai, Cohen, Michelle, Kovar, Christie, Wei, Wei-Qi, Chung, Wendy K., Weng, Chunhua, Wiesner, Georgia L., Jarvik, Gail P., Muzny, Donna, Gibbs, Richard A.

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Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes per Feliciano, Pamela, Zhou, Xueya, Astrovskaya, Irina, Turner, Tychele N., Wang, Tianyun, Brueggeman, Leo, Barnard, Rebecca, Hsieh, Alexander, Snyder, LeeAnne Green, Muzny, Donna M., Sabo, Aniko, Gibbs, Richard A., Eichler, Evan E., O’Roak, Brian J., Michaelson, Jacob J., Volfovsky, Natalia, Shen, Yufeng, Chung, Wendy K.

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Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children’s Oncology Group per Li, He, Sisoudiya, Saumya D, Martin-Giacalone, Bailey A, Khayat, Michael M, Dugan-Perez, Shannon, Marquez-Do, Deborah A, Scheurer, Michael E, Muzny, Donna, Boerwinkle, Eric, Gibbs, Richard A, Chi, Yueh-Yun, Barkauskas, Donald A, Lo, Tammy, Hall, David, Stewart, Douglas R, Schiffman, Joshua D, Skapek, Stephen X, Hawkins, Douglas S, Plon, Sharon E, Sabo, Aniko, Lupo, Philip J

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