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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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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Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality
Hong, Yun Soo, Battle, Stephanie L., Shi, Wen, Puiu, Daniela, Pillalamarri, Vamsee, Xie, Jiaqi, Pankratz, Nathan, Lake, Nicole J., Lek, Monkol, Rotter, Jerome I., Rich, Stephen S., Kooperberg, Charles, Reiner, Alex P., Auer, Paul L., Heard-Costa, Nancy, Liu, Chunyu, Lai, Meng, Murabito, Joanne M., Levy, Daniel, Grove, Megan L., Alonso, Alvaro, Gibbs, Richard, Dugan-Perez, Shannon, Gondek, Lukasz P., Guallar, Eliseo, Arking, Dan E.
Published in Nature communications (30.09.2023)
Published in Nature communications (30.09.2023)
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Exome sequencing reveals novel genetic loci influencing obesity‐related traits in Hispanic children
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.
Published in Obesity (Silver Spring, Md.) (01.07.2017)
Published in Obesity (Silver Spring, Md.) (01.07.2017)
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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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Accounting for population structure in genetic studies of cystic fibrosis
Kingston, Hanley, Stilp, Adrienne M., Gordon, William, Broome, Jai, Gogarten, Stephanie M., Ling, Hua, Barnard, John, Dugan-Perez, Shannon, Ellinor, Patrick T., Gabriel, Stacey, Germer, Soren, Gibbs, Richard A., Gupta, Namrata, Rice, Kenneth, Smith, Albert V., Zody, Michael C., Blackman, Scott M., Cutting, Garry, Knowles, Michael R., Zhou, Yi-Hui, Rosenfeld, Margaret, Gibson, Ronald L., Bamshad, Michael, Fohner, Alison, Blue, Elizabeth E.
Published in HGG advances (14.07.2022)
Published in HGG advances (14.07.2022)
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Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program
Hu, Xiaowei, Qiao, Dandi, Kim, Wonji, Moll, Matthew, Balte, Pallavi P, Lange, Leslie A, Bartz, Traci M, Kumar, Rajesh, Li, Xingnan, Yu, Bing, Cade, Brian E, Laurie, Cecelia A, Sofer, Tamar, Ruczinski, Ingo, Nickerson, Deborah A, Muzny, Donna M, Metcalf, Ginger A, Doddapaneni, Harshavardhan, Gabriel, Stacy, Gupta, Namrata, Dugan-Perez, Shannon, Cupples, L Adrienne, Loehr, Laura R, Jain, Deepti, Rotter, Jerome I, Wilson, James G, Psaty, Bruce M, Fornage, Myriam, Morrison, Alanna C, Vasan, Ramachandran S, Washko, George, Rich, Stephen S, O'Connor, George T, Bleecker, Eugene, Kaplan, Robert C, Kalhan, Ravi, Redline, Susan, Gharib, Sina A, Meyers, Deborah, Ortega, Victor, Dupuis, Josée, London, Stephanie J, Lappalainen, Tuuli, Oelsner, Elizabeth C, Silverman, Edwin K, Barr, R Graham, Thornton, Timothy A, Wheeler, Heather E, Cho, Michael H, Im, Hae Kyung, Manichaikul, Ani
Published in American journal of human genetics (05.05.2022)
Published in American journal of human genetics (05.05.2022)
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Human whole-exome genotype data for Alzheimer’s disease
Leung, Yuk Yee, Naj, Adam C., Chou, Yi-Fan, Valladares, Otto, Schmidt, Michael, Hamilton-Nelson, Kara, Wheeler, Nicholas, Lin, Honghuang, Gangadharan, Prabhakaran, Qu, Liming, Clark, Kaylyn, Kuzma, Amanda B., Lee, Wan-Ping, Cantwell, Laura, Nicaretta, Heather, Haines, Jonathan, Farrer, Lindsay, Seshadri, Sudha, Brkanac, Zoran, Cruchaga, Carlos, Pericak-Vance, Margaret, Mayeux, Richard P., Bush, William S., Destefano, Anita, Martin, Eden, Schellenberg, Gerard D., Wang, Li-San
Published in Nature communications (23.01.2024)
Published in Nature communications (23.01.2024)
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Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry
Patel, Devanshi, Mez, Jesse, Vardarajan, Badri N, Staley, Lyndsay, Chung, Jaeyoon, Zhang, Xiaoling, Farrell, John J, Rynkiewicz, Michael J, Cannon-Albright, Lisa A, Teerlink, Craig C, Stevens, Jeffery, Corcoran, Christopher, Gonzalez Murcia, Josue D, Lopez, Oscar L, Mayeux, Richard, Haines, Jonathan L, Pericak-Vance, Margaret A, Schellenberg, Gerard, Kauwe, John S K, Lunetta, Kathryn L, Farrer, Lindsay A
Published in JAMA network open (01.03.2019)
Published in JAMA network open (01.03.2019)
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Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology Group
Martin-Giacalone, Bailey A, Li, He, Scheurer, Michael E, Casey, Dana L, Dugan-Perez, Shannon, Marquez-Do, Deborah A, Muzny, Donna, Gibbs, Richard A, Barkauskas, Donald A, Hall, David, Stewart, Douglas R, Schiffman, Joshua D, McEvoy, Matthew T, Khan, Javed, Malkin, David, Linardic, Corinne M, Crompton, Brian D, Shern, Jack F, Skapek, Stephen X, Venkatramani, Rajkumar, Hawkins, Douglas S, Sabo, Aniko, Plon, Sharon E, Lupo, Philip J
Published in JAMA network open (04.03.2024)
Published in JAMA network open (04.03.2024)
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Journal Article
Genome Sequencing in the Parkinson Disease Clinic
Hill, Emily J, Robak, Laurie A, Al-Ouran, Rami, Deger, Jennifer, Fong, Jamie C, Vandeventer, Paul Jerrod, Schulman, Emily, Rao, Sindhu, Saade, Hiba, Savitt, Joseph M, von Coelln, Rainer, Desai, Neeja, Doddapaneni, Harshavardhan, Salvi, Sejal, Dugan-Perez, Shannon, Muzny, Donna M, McGuire, Amy L, Liu, Zhandong, Gibbs, Richard A, Shaw, Chad, Jankovic, Joseph, Shulman, Lisa M, Shulman, Joshua M
Published in Neurology. Genetics (01.08.2022)
Published in Neurology. Genetics (01.08.2022)
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Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease
Beecham, Gary W, Vardarajan, Badri, Blue, Elizabeth, Bush, William, Jaworski, James, Barral, Sandra, DeStefano, Anita, Hamilton-Nelson, Kara, Kunkle, Brian, Martin, Eden R, Naj, Adam, Rajabli, Farid, Reitz, Christiane, Thornton, Timothy, van Duijn, Cornelia, Goate, Allison, Seshadri, Sudha, Farrer, Lindsay A, Boerwinkle, Eric, Schellenberg, Gerard, Haines, Jonathan L, Wijsman, Ellen, Mayeux, Richard, Pericak-Vance, Margaret A
Published in Neurology. Genetics (01.12.2018)
Published in Neurology. Genetics (01.12.2018)
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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
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
Published in Cold Spring Harbor molecular case studies (01.03.2016)
Published in Cold Spring Harbor molecular case studies (01.03.2016)
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Whole Exome Sequencing Identifies Novel Genes for Fetal Hemoglobin Response to Hydroxyurea in Children with Sickle Cell Anemia: e110740
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
Published in PloS one (01.10.2014)
Published in PloS one (01.10.2014)
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The genome of the water strider Gerris buenoi reveals expansions of gene repertoires associated with adaptations to life on the water
Armisen, David, Rajakumar, Rajendhran, Friedrich, Markus, Benoit, Joshua B, Robertson, Hugh M, Panfilio, Kristen A, Ahn, Seung-Joon, Poelchau, Monica F, Hsu, Chao, Dinh, Huyen, Doddapaneni, Harshavardhan, Dugan-Perez, Shannon, Gibbs, Richard A, Daniel St Hughes, Han, Yi, Lee, Sandra L, Murali, Shwetha C, Muzny, Donna M, Qu, Jiaxin, Worley, Kim C, Munoz-Torres, Monica, Abouheif, Ehab, Bonneton, Francois, Chen, Travis, Li-Mei, Chiang, Childers, Christopher P, Cridge, Andrew G, Crumiere, Antonin Jj, Decaras, Amelie, Didion, Elise M, Duncan, Elizabeth, Elpidina, Elena N, Marie-Julie Fave, Finet, Cedric, Jacobs, Chris Gc, Jarvela, Alys, Jennings, Emily J, Jones, Jeffery W, Lesoway, Maryna P, Lovegrove, Mackenzie, Martynov, Alexander, Oppert, Brenda, Lilico-Ouachour, Angelica, Rajakumar, Arjuna, Refki, Peter N, Rosendale, Andrew J, Santos, Maria Emilia, Toubiana, William, Maurijn Van Der Zee, Vargas Jentzsch, Iris M, Aidamalia Vargas Lowman, Viala, Severine, Richards, Stephen, Khila, Abderrahman
Published in bioRxiv (11.02.2018)
Published in bioRxiv (11.02.2018)
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