A framework for the interpretation of de novo mutation in human disease
Samocha, Kaitlin E, Robinson, Elise B, Sanders, Stephan J, Stevens, Christine, Sabo, Aniko, McGrath, Lauren M, Kosmicki, Jack A, Rehnström, Karola, Mallick, Swapan, Kirby, Andrew, Wall, Dennis P, MacArthur, Daniel G, Gabriel, Stacey B, DePristo, Mark, Purcell, Shaun M, Palotie, Aarno, Boerwinkle, Eric, Buxbaum, Joseph D, Cook, Edwin H, Gibbs, Richard A, Schellenberg, Gerard D, Sutcliffe, James S, Devlin, Bernie, Roeder, Kathryn, Neale, Benjamin M, Daly, Mark J
Published in Nature genetics (01.09.2014)
Published in Nature genetics (01.09.2014)
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Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children’s Oncology Group
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
Published in JNCI : Journal of the National Cancer Institute (01.07.2021)
Published in JNCI : Journal of the National Cancer Institute (01.07.2021)
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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
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
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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Journal Article
Assessing structural variation in a personal genome-towards a human reference diploid genome
English, Adam C, Salerno, William J, Hampton, Oliver A, Gonzaga-Jauregui, Claudia, Ambreth, Shruthi, Ritter, Deborah I, Beck, Christine R, Davis, Caleb F, Dahdouli, Mahmoud, Ma, Singer, Carroll, Andrew, Veeraraghavan, Narayanan, Bruestle, Jeremy, Drees, Becky, Hastie, Alex, Lam, Ernest T, White, Simon, Mishra, Pamela, Wang, Min, Han, Yi, Zhang, Feng, Stankiewicz, Pawel, Wheeler, David A, Reid, Jeffrey G, Muzny, Donna M, Rogers, Jeffrey, Sabo, Aniko, Worley, Kim C, Lupski, James R, Boerwinkle, Eric, Gibbs, Richard A
Published in BMC genomics (11.04.2015)
Published in BMC genomics (11.04.2015)
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Journal Article
Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome
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
Published in American journal of human genetics (01.05.2014)
Published in American journal of human genetics (01.05.2014)
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Journal Article
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications
Murdock, David R., Venner, Eric, Muzny, Donna M., Metcalf, Ginger A., Murugan, Mullai, Hadley, Trevor D., Chander, Varuna, de Vries, Paul S., Jia, Xiaoming, Hussain, Aliza, Agha, Ali M., Sabo, Aniko, Li, Shoudong, Meng, Qingchang, Hu, Jianhong, Tian, Xia, Cohen, Michelle, Yi, Victoria, Kovar, Christie L., Gingras, Marie-Claude, Korchina, Viktoriya, Howard, Chad, Riconda, Daniel L., Pereira, Stacey, Smith, Hadley S., Huda, Zohra A., Buentello, Alexandria, Marino, Patricia R., Leiber, Lee, Balasubramanyam, Ashok, Amos, Christopher I., Civitello, Andrew B., Chelu, Mihail G., Maag, Ronald, McGuire, Amy L., Boerwinkle, Eric, Wehrens, Xander H. T., Ballantyne, Christie M., Gibbs, Richard A.
Published in Genetics in medicine (01.12.2021)
Published in Genetics in medicine (01.12.2021)
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Journal Article
Identification of Genes Subject to Positive Selection in Uropathogenic Strains of Escherichia coli: A Comparative Genomics Approach
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.
Published in Proceedings of the National Academy of Sciences - PNAS (11.04.2006)
Published in Proceedings of the National Academy of Sciences - PNAS (11.04.2006)
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Journal Article
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls
Liu, Li, Sabo, Aniko, Neale, Benjamin M, Nagaswamy, Uma, Stevens, Christine, Lim, Elaine, Bodea, Corneliu A, Muzny, Donna, Reid, Jeffrey G, Banks, Eric, Coon, Hillary, Depristo, Mark, Dinh, Huyen, Fennel, Tim, Flannick, Jason, Gabriel, Stacey, Garimella, Kiran, Gross, Shannon, Hawes, Alicia, Lewis, Lora, Makarov, Vladimir, Maguire, Jared, Newsham, Irene, Poplin, Ryan, Ripke, Stephan, Shakir, Khalid, Samocha, Kaitlin E, Wu, Yuanqing, Boerwinkle, Eric, Buxbaum, Joseph D, Cook, Jr, Edwin H, Devlin, Bernie, Schellenberg, Gerard D, Sutcliffe, James S, Daly, Mark J, Gibbs, Richard A, Roeder, Kathryn
Published in PLoS genetics (01.04.2013)
Published in PLoS genetics (01.04.2013)
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Exome‐wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants
Sok, Pagna, Sabo, Aniko, Almli, Lynn M., Jenkins, Mary M., Nembhard, Wendy N., Agopian, A. J., Bamshad, Michael J., Blue, Elizabeth E., Brody, Lawrence C., Brown, Austin L., Browne, Marilyn L., Canfield, Mark A., Carmichael, Suzan L., Chong, Jessica X., Dugan‐Perez, Shannon, Feldkamp, Marcia L., Finnell, Richard H., Gibbs, Richard A., Kay, Denise M., Lei, Yunping, Meng, Qingchang, Moore, Cynthia A., Mullikin, James C., Muzny, Donna, Olshan, Andrew F., Pangilinan, Faith, Reefhuis, Jennita, Romitti, Paul A., Schraw, Jeremy M., Shaw, Gary M., Werler, Martha M., Harpavat, Sanjiv, Lupo, Philip J.
Published in American journal of medical genetics. Part A (01.06.2023)
Published in American journal of medical genetics. Part A (01.06.2023)
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Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia
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
Published in PloS one (31.10.2014)
Published in PloS one (31.10.2014)
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Genetic diversity in India and the inference of Eurasian population expansion
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
Published in Genome biology (24.11.2010)
Published in Genome biology (24.11.2010)
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Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability
Sabo, Aniko, Murdock, David, Dugan, Shannon, Meng, Qingchang, Gingras, Marie‐Claude, Hu, Jianhong, Muzny, Donna, Gibbs, Richard
Published in Molecular genetics & genomic medicine (01.10.2020)
Published in Molecular genetics & genomic medicine (01.10.2020)
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Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model
McIntyre, Jeremy C, Davis, Erica E, Joiner, Ariell, Williams, Corey L, Tsai, I-Chun, Jenkins, Paul M, McEwen, Dyke P, Zhang, Lian, Escobado, John, Thomas, Sophie, Szymanska, Katarzyna, Johnson, Colin A, Beales, Philip L, Green, Eric D, Mullikin, James C, Program, NISC Comparative Sequencing, Sabo, Aniko, Muzny, Donna M, Gibbs, Richard A, Attié-Bitach, Tania, Yoder, Bradley K, Reed, Randall R, Katsanis, Nicholas, Martens, Jeffrey R
Published in Nature medicine (01.09.2012)
Published in Nature medicine (01.09.2012)
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Exome variant discrepancies due to reference-genome differences
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.
Published in American journal of human genetics (01.07.2021)
Published in American journal of human genetics (01.07.2021)
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Patterns and rates of exonic de novo mutations in autism spectrum disorders
Neale, Benjamin M., Kou, Yan, Liu, Li, Ma’ayan, Avi, Samocha, Kaitlin E., Sabo, Aniko, Lin, Chiao-Feng, Stevens, Christine, Wang, Li-San, Makarov, Vladimir, Polak, Paz, Yoon, Seungtai, Maguire, Jared, Crawford, Emily L., Campbell, Nicholas G., Geller, Evan T., Valladares, Otto, Schafer, Chad, Liu, Han, Zhao, Tuo, Cai, Guiqing, Lihm, Jayon, Dannenfelser, Ruth, Jabado, Omar, Peralta, Zuleyma, Nagaswamy, Uma, Muzny, Donna, Reid, Jeffrey G., Newsham, Irene, Wu, Yuanqing, Lewis, Lora, Han, Yi, Voight, Benjamin F., Lim, Elaine, Rossin, Elizabeth, Kirby, Andrew, Flannick, Jason, Fromer, Menachem, Shakir, Khalid, Fennell, Tim, Garimella, Kiran, Banks, Eric, Poplin, Ryan, Gabriel, Stacey, DePristo, Mark, Wimbish, Jack R., Boone, Braden E., Levy, Shawn E., Betancur, Catalina, Sunyaev, Shamil, Boerwinkle, Eric, Buxbaum, Joseph D., Cook Jr, Edwin H., Devlin, Bernie, Gibbs, Richard A., Roeder, Kathryn, Schellenberg, Gerard D., Sutcliffe, James S., Daly, Mark J.
Published in Nature (London) (10.05.2012)
Published in Nature (London) (10.05.2012)
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Isolation and Barcoding of Trace Pollen-free DNA for Authentication of Honey
Chavan, Dimple, Adolacion, Jay R T., Crum, Mary, Nandy, Suman, Lee, Kyung Hyun, Vu, Binh, Kourentzi, Katerina, Sabo, Aniko, Willson, Richard C.
Published in Journal of agricultural and food chemistry (02.11.2022)
Published in Journal of agricultural and food chemistry (02.11.2022)
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1402-P: Novel Lipodystrophy Genotype Correlations Identified through the Rare and Atypical Diabetes Network (RADIANT)
Broome, David, Foss-Freitas, Maria C, Sabo, Aniko, Saeed, Zeb I, Udler, Miriam, Pollin, Toni I, Flannick, Jason, Maloney, Kristin A, Gilio, Donatella, Guler, Merve Celik, Kaba, Diarratou, Gomes, Anabela Dill, Posey, Jennifer, Tosur, Mustafa, Stone, Stephen I, Kreienkamp, Raymond J, Hirsch, Irl B, Florez, Jose C, Balasubramanyam, Ashok, Philipson, Louis H, Pihoker, Catherine, Oral, Elif A
Published in Diabetes (New York, N.Y.) (01.06.2024)
Published in Diabetes (New York, N.Y.) (01.06.2024)
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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders
Wang, Tianyun, Kim, Chang N, Bakken, Trygve E, Gillentine, Madelyn A, Henning, Barbara, Mao, Yafei, Gilissen, Christian, Nowakowski, Tomasz J, Eichler, Evan E
Published in Proceedings of the National Academy of Sciences - PNAS (15.11.2022)
Published in Proceedings of the National Academy of Sciences - PNAS (15.11.2022)
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