Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland von Zhao, Li, Wang, Feng, Wang, Hui, Li, Yumei, Alexander, Sharon, Wang, Keqing, Willoughby, Colin E., Zaneveld, Jacques E., Jiang, Lichun, Soens, Zachry T., Earle, Philip, Simpson, David, Silvestri, Giuliana, Chen, Rui

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Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1 von Soens, Zachry T., Li, Yuanyuan, Zhao, Li, Eblimit, Aiden, Dharmat, Rachayata, Li, Yumei, Chen, Yiyun, Naqeeb, Mohammed, Fajardo, Norma, Lopez, Irma, Sun, Zhaoxia, Koenekoop, Robert K., Chen, Rui

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The phenotypic variability of HK1-associated retinal dystrophy von Yuan, Zhisheng, Li, Baiyu, Xu, Mingchu, Chang, Emmanuel Y., Li, Huajin, Yang, Lizhu, Wu, Shijing, Soens, Zachry T., Li, Yumei, Wong, Lee-Jun C., Lewis, Richard A., Sui, Ruifang, Chen, Rui

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GRIPT: a novel case-control analysis method for Mendelian disease gene discovery von Wang, Jun, Zhao, Li, Wang, Xia, Chen, Yong, Xu, Mingchu, Soens, Zachry T, Ge, Zhongqi, Wang, Peter Ronghan, Wang, Fei, Chen, Rui

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Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies von Xu, Mingchu, Xie, Yajing (Angela), Abouzeid, Hana, Gordon, Christopher T., Fiorentino, Alessia, Sun, Zixi, Lehman, Anna, Osman, Ihab S., Dharmat, Rachayata, Riveiro-Alvarez, Rosa, Bapst-Wicht, Linda, Babino, Darwin, Arno, Gavin, Busetto, Virginia, Zhao, Li, Li, Hui, Lopez-Martinez, Miguel A., Azevedo, Liliana F., Hubert, Laurence, Pontikos, Nikolas, Eblimit, Aiden, Lorda-Sanchez, Isabel, Kheir, Valeria, Plagnol, Vincent, Oufadem, Myriam, Soens, Zachry T., Yang, Lizhu, Bole-Feysot, Christine, Pfundt, Rolph, Allaman-Pillet, Nathalie, Nitschké, Patrick, Cheetham, Michael E., Lyonnet, Stanislas, Agrawal, Smriti A., Li, Huajin, Pinton, Gaëtan, Michaelides, Michel, Besmond, Claude, Li, Yumei, Yuan, Zhisheng, von Lintig, Johannes, Webster, Andrew R., Le Hir, Hervé, Stoilov, Peter, Black, Graeme, Hall, Georgina, Gillespie, Rachel, Ramsden, Simon, Manson, Forbes, Sergouniotis, Panagiotis, Inglehearn, Chris, Toomes, Carmel, Ali, Manir, McKibbin, Martin, Poulter, James, Lord, Emma, Nemeth, Andrea, Halford, Stephanie, Downes, Susan, Yu, Jing, Amiel, Jeanne, Hardcastle, Alison J., Ayuso, Carmen, Sui, Ruifang, Chen, Rui, Allikmets, Rando, Schorderet, Daniel F.

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Leveraging splice‐affecting variant predictors and a minigene validation system to identify Mendelian disease‐causing variants among exon‐captured variants of uncertain significanc... von Soens, Zachry T., Branch, Justin, Wu, Shijing, Yuan, Zhisheng, Li, Yumei, Li, Hui, Wang, Keqing, Xu, Mingchu, Rajan, Lavan, Motta, Fabiana L., Simões, Renata T., Lopez‐Solache, Irma, Ajlan, Radwan, Birch, David G., Zhao, Peiquan, Porto, Fernanda B., Sallum, Juliana, Koenekoop, Robert K., Sui, Ruifang, Chen, Rui

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Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles von Boone, Philip M, Campbell, Ian M, Baggett, Brett C, Soens, Zachry T, Rao, Mitchell M, Hixson, Patricia M, Patel, Ankita, Bi, Weimin, Cheung, Sau Wai, Lalani, Seema R, Beaudet, Arthur L, Stankiewicz, Pawel, Shaw, Chad A, Lupski, James R

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Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genes von Zhao, Li, Chen, Yiyun, Bajaj, Amol Onkar, Eblimit, Aiden, Xu, Mingchu, Soens, Zachry T, Wang, Feng, Ge, Zhongqi, Jung, Sung Yun, He, Feng, Li, Yumei, Wensel, Theodore G, Qin, Jun, Chen, Rui

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Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy von Porto, Fernanda B O, Jones, Evan M, Branch, Justin, Soens, Zachry T, Maia, Igor Mendes, Sena, Isadora F G, Sampaio, Shirley A M, Simões, Renata T, Chen, Rui

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Incidental copy-number variants identified by routine genome testing in a clinical population von Boone, Philip M., Soens, Zachry T., Campbell, Ian M., Stankiewicz, Pawel, Cheung, Sau Wai, Patel, Ankita, Beaudet, Arthur L., Plon, Sharon E., Shaw, Chad A., McGuire, Amy L., Lupski, James R.

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Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort von Wang, Hui, Wang, Xia, Zou, Xuan, Xu, Shan, Li, Hui, Soens, Zachry Tore, Wang, Keqing, Li, Yumei, Dong, Fangtian, Chen, Rui, Sui, Ruifang

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Pathogenic Germline Variants in Multiple Myeloma von Thibaud, Santiago, Etra, Aaron, Subaran, Ryan, Soens, Zachry, Newman, Scott, Chen, Rong, Chari, Ajai, Cho, Hearn Jay, Jagannath, Sundar, Madduri, Deepu, Melnekoff, David T., Richard, Shambavi, Richter, Joshua, Sanchez, Larysa, Huang, Kuan-lin, Lagana, Alessandro, Parekh, Samir, Onel, Kenan

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Abstract 868: Heritable cancer mutations in multiple myeloma von Thibaud, Santiago, Etra, Aaron, Subaran, Ryan, Soens, Zachry, Newman, Scott, Chen, Rong, Chari, Ajai, Cho, Hearn J., Jagannath, Sundar, Madduri, Deepu, Melnekoff, David T., Richard, Shambavi, Richter, Joshua, Sanchez, Larysa, Lagana, Alessandro, Parekh, Samir, Onel, Kenan

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VONC: A solution for the clinical assessment of somatic genomic alterations von Kueffner, Robert, Li, Hui, Cheung, Kakit, Fink, Marc, Soens, Zachry, Wang, Jinlian, Siddiqui, Osman, Thiumurthi, Umadevi, Uzilov, Andrew, Song, Chunying, Villar, Joaquin, Pollock, Andrew, Jeganathan, Bharath, Zimmermann, Michelle, Kip, Nefize Sertac, Rossi, Michael, Schadt, Eric, Li, Dan, Hantash, Feras, Chen, Rong

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P-063: Pathogenic germline variants in hereditary cancer genes in patients with Multiple Myeloma von Thibaud, Santiago, Etra, Aaron, Subaran, Ryan, Soens, Zachry, Newman, Scott, Chen, Rong, Chari, Ajai, Cho, Hearn Jay, Jagannath, Sundar, Madduri, Deepu, Melnekoff, David, Richard, Shambavi, Richter, Joshua, Sanchez, Larysa, Huang, Kuan-Lin, Lagana, Alessandro, Parekh, Samir, Onel, Kenan

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Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants amongst exon-captured variants of uncertain significa... von Soens, Zachry T., Branch, Justin, Wu, Shijing, Yuan, Zhisheng, Li, Yumei, Li, Hui, Wang, Keqing, Xu, Mingchu, Rajan, Lavan, Motta, Fabiana L., Simões, Renata T., Lopez-Solache, Irma, Ajlan, Radwan, Birch, David G., Zhao, Peiquan, Porto, Fernanda B., Sallum, Juliana, Koenekoop, Robert K., Sui, Ruifang, Chen, Rui

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Hypomorphic mutations identified in candidate Leber congenital amaurosis disease gene CLUAP1 von Soens, Zachry T., Li, Yuanyuan, Zhao, Li, Eblimit, Aiden, Dharmat, Rachayata, Li, Yumei, Chen, Yiyun, Naqeeb, Mohammed, Fajardo, Norma, Lopez, Irma, Sun, Zhaoxia, Koenekoop, Robert K., Chen, Rui

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Additional file 1: of GRIPT: a novel case-control analysis method for Mendelian disease gene discovery von Wang, Jun, Zhao, Li, Wang, Xia, Chen, Yong, Xu, Mingchu, Soens, Zachry, Ge, Zhongqi, Wang, Peter, Wang, Fei, Chen, Rui

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The Simulation Dataset Of Gript: A Novel Case-Control Analysis Method For Mendelian Disease Gene Discovery von Wang, Jun, Zhao, Li, Wang, Xia, Chen, Yong, Xu, Mingchu, Soens, Zachry T., Ge, Zhongqi, Wang, Peter Ronghan, Wang, Fei, Chen, Rui

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