Sökresultat - Sabo, Aniko

Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability av 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 av 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 av 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 av 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 av 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 av 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 av 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 av 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 av 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 av 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 av 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 av 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) av 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 av 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 av 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 av 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 av 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 av 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 av 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 av 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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