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Clinically relevant copy number variations detected in cerebral palsy
Oskoui, Maryam, Gazzellone, Matthew J., Thiruvahindrapuram, Bhooma, Zarrei, Mehdi, Andersen, John, Wei, John, Wang, Zhuozhi, Wintle, Richard F., Marshall, Christian R., Cohn, Ronald D., Weksberg, Rosanna, Stavropoulos, Dimitri J., Fehlings, Darcy, Shevell, Michael I., Scherer, Stephen W.
Published in Nature communications (03.08.2015)
Published in Nature communications (03.08.2015)
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Analytical Validation of a Computational Method for Pharmacogenetic Genotyping from Clinical Whole Exome Sequencing
Ly, Reynold C., Shugg, Tyler, Ratcliff, Ryan, Osei, Wilberforce, Lynnes, Ty C., Pratt, Victoria M., Schneider, Bryan P., Radovich, Milan, Bray, Steven M., Salisbury, Benjamin A., Parikh, Baiju, Sahinalp, S. Cenk, Numanagić, Ibrahim, Skaar, Todd C.
Published in The Journal of molecular diagnostics : JMD (01.06.2022)
Published in The Journal of molecular diagnostics : JMD (01.06.2022)
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Exploring mitochondrial DNA copy number in circulating cell‐free DNA and extracellular vesicles across cardiovascular health status: A prospective case–control pilot study
Rucci, Chiara, Simone, Gaia, Salathia, Saniya, Casadidio, Cristina, Censi, Roberta, Bordoni, Laura
Published in The FASEB journal (31.05.2024)
Published in The FASEB journal (31.05.2024)
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Classification of cancers based on copy number variation landscapes
Zhang, Ning, Wang, Meng, Zhang, Peiwei, Huang, Tao
Published in Biochimica et biophysica acta (01.11.2016)
Published in Biochimica et biophysica acta (01.11.2016)
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Genetic Heterogeneity Shapes Brain Connectivity in Psychiatry
Moreau, Clara A., Harvey, Annabelle, Kumar, Kuldeep, Huguet, Guillaume, Urchs, Sebastian G.W., Douard, Elise A., Schultz, Laura M., Sharmarke, Hanad, Jizi, Khadije, Martin, Charles-Olivier, Younis, Nadine, Tamer, Petra, Rolland, Thomas, Martineau, Jean-Louis, Orban, Pierre, Silva, Ana Isabel, Hall, Jeremy, van den Bree, Marianne B.M., Owen, Michael J., Linden, David E.J., Labbe, Aurelie, Lippé, Sarah, Bearden, Carrie E., Almasy, Laura, Glahn, David C., Thompson, Paul M., Bourgeron, Thomas, Bellec, Pierre, Jacquemont, Sebastien
Published in Biological psychiatry (1969) (01.01.2023)
Published in Biological psychiatry (1969) (01.01.2023)
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Inhalable mixture of polycyclic aromatic hydrocarbons and metals, DNA oxidative stress and nasal ribosomal DNA copy number amplification: Direct and indirect effect analyses among population
Wang, Yanhua, Meng, Tao, Zhang, Liya, Lin, Yang, Wu, Nan, Yuan, Huige, He, Zhizhou, Niu, Yong, Dai, Yufei, Zhao, Xing, Duan, Huawei
Published in Journal of hazardous materials (05.08.2023)
Published in Journal of hazardous materials (05.08.2023)
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OneD: increasing reproducibility of Hi-C samples with abnormal karyotypes
Vidal, Enrique, le Dily, François, Quilez, Javier, Stadhouders, Ralph, Cuartero, Yasmina, Graf, Thomas, Marti-Renom, Marc A, Beato, Miguel, Filion, Guillaume J
Published in Nucleic acids research (04.05.2018)
Published in Nucleic acids research (04.05.2018)
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Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
Lionel, Anath C., Tammimies, Kristiina, Vaags, Andrea K., Rosenfeld, Jill A., Ahn, Joo Wook, Merico, Daniele, Noor, Abdul, Runke, Cassandra K., Pillalamarri, Vamsee K., Carter, Melissa T., Gazzellone, Matthew J., Thiruvahindrapuram, Bhooma, Fagerberg, Christina, Laulund, Lone W., Pellecchia, Giovanna, Lamoureux, Sylvia, Deshpande, Charu, Clayton-Smith, Jill, White, Ann C., Leather, Susan, Trounce, John, Melanie Bedford, H., Hatchwell, Eli, Eis, Peggy S., Yuen, Ryan K.C., Walker, Susan, Uddin, Mohammed, Geraghty, Michael T., Nikkel, Sarah M., Tomiak, Eva M., Fernandez, Bridget A., Soreni, Noam, Crosbie, Jennifer, Arnold, Paul D., Schachar, Russell J., Roberts, Wendy, Paterson, Andrew D., So, Joyce, Szatmari, Peter, Chrysler, Christina, Woodbury-Smith, Marc, Brian Lowry, R., Zwaigenbaum, Lonnie, Mandyam, Divya, Wei, John, MacDonald, Jeffrey R., Howe, Jennifer L., Nalpathamkalam, Thomas, Wang, Zhuozhi, Tolson, Daniel, Cobb, David S., Wilks, Timothy M., Sorensen, Mark J., Bader, Patricia I., An, Yu, Wu, Bai-Lin, Musumeci, Sebastiano Antonino, Romano, Corrado, Postorivo, Diana, Nardone, Anna M., Monica, Matteo Della, Scarano, Gioacchino, Zoccante, Leonardo, Novara, Francesca, Zuffardi, Orsetta, Ciccone, Roberto, Antona, Vincenzo, Carella, Massimo, Zelante, Leopoldo, Cavalli, Pietro, Poggiani, Carlo, Cavallari, Ugo, Argiropoulos, Bob, Chernos, Judy, Brasch-Andersen, Charlotte, Speevak, Marsha, Fichera, Marco, Ogilvie, Caroline Mackie, Shen, Yiping, Hodge, Jennelle C., Talkowski, Michael E., Stavropoulos, Dimitri J., Marshall, Christian R., Scherer, Stephen W.
Published in Human molecular genetics (15.05.2014)
Published in Human molecular genetics (15.05.2014)
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Development and validation of a one-step SMN assay for genetic testing in spinal muscular atrophy via MALDI-TOF MS
Xing, Xiaodong, Ji, Xing, Liu, Xinzhu, Jin, Xiaohui, He, Zhenglei, Xu, Ajing, Jiang, Wengao, Ji, Wenbo, Liu, Yan, Zhang, Jian, Huang, Xiaohui
Published in Analyst (London) (16.12.2024)
Published in Analyst (London) (16.12.2024)
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Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes
Hsieh, PingHsun, Vollger, Mitchell R., Dang, Vy, Porubsky, David, Baker, Carl, Cantsilieris, Stuart, Hoekzema, Kendra, Lewis, Alexandra P., Munson, Katherine M., Sorensen, Melanie, Kronenberg, Zev N., Murali, Shwetha, Nelson, Bradley J., Chiatante, Giorgia, Maggiolini, Flavia Angela Maria, Blanché, Hélène, Underwood, Jason G., Antonacci, Francesca, Deleuze, Jean-François, Eichler, Evan E.
Published in Science (American Association for the Advancement of Science) (18.10.2019)
Published in Science (American Association for the Advancement of Science) (18.10.2019)
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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
Santen, Gijs W E, Aten, Emmelien, Sun, Yu, Almomani, Rowida, Gilissen, Christian, Nielsen, Maartje, Kant, Sarina G, Snoeck, Irina N, Peeters, Els A J, Hilhorst-Hofstee, Yvonne, Wessels, Marja W, den Hollander, Nicolette S, Ruivenkamp, Claudia A L, van Ommen, Gert-Jan B, Breuning, Martijn H, den Dunnen, Johan T, van Haeringen, Arie, Kriek, Marjolein
Published in Nature genetics (01.04.2012)
Published in Nature genetics (01.04.2012)
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Copy Number Variation of the glucose transporter gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome
Mlynarski, Elisabeth E., Sheridan, Molly B., Xie, Michael, Guo, Tingwei, Racedo, Silvia E., McDonald McGinn, Donna M., Gai, Xiaowu, Chow, Eva W.C., Vorstman, Jacob, Swillen, Ann, Devriendt, Koen, Breckpot, Jeroen, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, Philip, Nicole, Simon, Tony J., Roberts, Amy E., Piotrowicz, Małgorzata, Bearden, Carrie E., Eliez, Stephan, Gothelf, Doron, Coleman, Karlene, Kates, Wendy R., Devoto, Marcella, Zackai, Elaine, Heine-Suñer, Damian, Shaikh, Tamim H., Bassett, Anne S., Goldmuntz, Elizabeth, Morrow, Bernice E., Emanuel, Beverly S.
Published in American journal of human genetics (07.05.2015)
Published in American journal of human genetics (07.05.2015)
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Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease
Chartier-Harlin, Marie-Christine, Dachsel, Justus C., Vilariño-Güell, Carles, Lincoln, Sarah J., Leprêtre, Frédéric, Hulihan, Mary M., Kachergus, Jennifer, Milnerwood, Austen J., Tapia, Lucia, Song, Mee-Sook, Le Rhun, Emilie, Mutez, Eugénie, Larvor, Lydie, Duflot, Aurélie, Vanbesien-Mailliot, Christel, Kreisler, Alexandre, Ross, Owen A., Nishioka, Kenya, Soto-Ortolaza, Alexandra I., Cobb, Stephanie A., Melrose, Heather L., Behrouz, Bahareh, Keeling, Brett H., Bacon, Justin A., Hentati, Emna, Williams, Lindsey, Yanagiya, Akiko, Sonenberg, Nahum, Lockhart, Paul J., Zubair, Abba C., Uitti, Ryan J., Aasly, Jan O., Krygowska-Wajs, Anna, Opala, Grzegorz, Wszolek, Zbigniew K., Frigerio, Roberta, Maraganore, Demetrius M., Gosal, David, Lynch, Tim, Hutchinson, Michael, Bentivoglio, Anna Rita, Valente, Enza Maria, Nichols, William C., Pankratz, Nathan, Foroud, Tatiana, Gibson, Rachel A., Hentati, Faycal, Dickson, Dennis W., Destée, Alain, Farrer, Matthew J.
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes
Lansdon, Lisa A., Dickinson, Amanda, Arlis, Sydney, Liu, Huan, Hlas, Arman, Hahn, Alyssa, Bonde, Greg, Long, Abby, Standley, Jennifer, Tyryshkina, Anastasia, Wehby, George, Lee, Nanette R., Daack-Hirsch, Sandra, Mohlke, Karen, Girirajan, Santhosh, Darbro, Benjamin W., Cornell, Robert A., Houston, Douglas W., Murray, Jeffrey C., Manak, J. Robert
Published in American journal of human genetics (05.01.2023)
Published in American journal of human genetics (05.01.2023)
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Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan
Saeed, Sadia, Arslan, Muhammad, Manzoor, Jaida, Din, Sadia M., Janjua, Qasim M., Ayesha, Hina, Ain, Qura-tul, Inam, Laraib, Lobbens, Stephane, Vaillant, Emmanuel, Durand, Emmanuelle, Derhourhi, Mehdi, Amanzougarene, Souhila, Badreddine, Alaa, Berberian, Lionel, Gaget, Stefan, Khan, Waqas I., Butt, Taeed A., Bonnefond, Amélie, Froguel, Philippe
Published in Diabetes (New York, N.Y.) (01.07.2020)
Published in Diabetes (New York, N.Y.) (01.07.2020)
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Effects of Complement C4 Gene Copy Number Variations, Size Dichotomy, and C4A Deficiency on Genetic Risk and Clinical Presentation of Systemic Lupus Erythematosus in East Asian Populations
Yih Chen, Ji, Ling Wu, Yee, Yin Mok, Mo, Jan Wu, Yeong‐Jian, Lintner, Katherine E., Wang, Chin‐Man, Chung, Erwin K., Yang, Yan, Zhou, Bi, Wang, Huanyu, Yu, Denise J. H. C., Alhomosh, Alaaedin, Jones, Karla, Spencer, Charles H., Nagaraja, Haikady N., Lung Lau, Yu, Lau, Chak‐Sing, Yung Yu, C.
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.06.2016)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.06.2016)
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Cell-Free DNA from Ascites and Pleural Effusions: Molecular Insights into Genomic Aberrations and Disease Biology
Husain, Hatim, Nykin, David, Bui, Nam, Quan, Daniel, Gomez, German, Woodward, Brian, Venkatapathy, Sumathi, Duttagupta, Radha, Fung, Eric, Lippman, Scott M., Kurzrock, Razelle
Published in Molecular cancer therapeutics (01.05.2017)
Published in Molecular cancer therapeutics (01.05.2017)
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Analysis of Diffusion Tensor Imaging Data From the UK Biobank Confirms Dosage Effect of 15q11.2 Copy Number Variation on White Matter and Shows Association With Cognition
Silva, Ana I., Kirov, George, Kendall, Kimberley M., Bracher-Smith, Mathew, Wilkinson, Lawrence S., Hall, Jeremy, Ulfarsson, Magnus O., Walters, G. Bragi, Stefansson, Hreinn, Stefansson, Kari, Linden, David E.J., Caseras, Xavier
Published in Biological psychiatry (1969) (01.09.2021)
Published in Biological psychiatry (1969) (01.09.2021)
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Obesity and metabolic syndrome in adults with a 22q11.2 microdeletion
Jaspers Faijer-Westerink, Hester, von Scheibler, Emma N. M. M., van Rossum, Elisabeth F. C., van Haelst, Mieke M., Vingerhoets, Claudia, van Amelsvoort, Thérèse A. M. J., van Eeghen, Agnies M., Boot, Erik
Published in International Journal of Obesity (01.04.2025)
Published in International Journal of Obesity (01.04.2025)
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