Хайлтын үр дүнгүүд - Gonzaga-Jauregui, Claudia

Human Genome Sequencing in Health and Disease -н Gonzaga-Jauregui, Claudia, Lupski, James R., Gibbs, Richard A.

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GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot–Marie–Tooth disease -н Gonzaga-Jauregui, Claudia, Zhang, Feng, Towne, Charles F., Batish, Sat Dev, Lupski, James R.

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Inverted Low-Copy Repeats and Genome Instability—A Genome-Wide Analysis -н Dittwald, Piotr, Gambin, Tomasz, Gonzaga-Jauregui, Claudia, Carvalho, Claudia M.B., Lupski, James R., Stankiewicz, Paweł, Gambin, Anna

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Clinical Utility of Whole-Exome Sequencing in Rare Diseases: Galactosialidosis -н Prada, Carlos E., Gonzaga-Jauregui, Claudia, Tannenbaum, Rebecca, Penney, Samantha, Lupski, James R., Hopkin, Robert J., Sutton, V. Reid

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Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population -н Gonzaga-Jauregui, Claudia, Gamble, Candace N, Yuan, Bo, Penney, Samantha, Jhangiani, Shalini, Muzny, Donna M, Gibbs, Richard A, Lupski, James R, Hecht, Jacqueline T

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Similar burden of pathogenic coding variants in exceptionally long‐lived individuals and individuals without exceptional longevity -н Gutman, Danielle, Lidzbarsky, Gabriel, Milman, Sofiya, Gao, Tina, Sin-Chan, Patrick, Gonzaga‐Jauregui, Claudia, Deelen, Joris, Shuldiner, Alan R., Barzilai, Nir, Atzmon, Gil

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High-Resolution Copy-Number Variation Map Reflects Human Olfactory Receptor Diversity and Evolution -н Hasin, Yehudit, Olender, Tsviya, Khen, Miriam, Gonzaga-Jauregui, Claudia, Kim, Philip M., Urban, Alexander Eckehart, Snyder, Michael, Gerstein, Mark B., Lancet, Doron, Korbel, Jan O.

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NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation -н Pehlivan, Davut, Hullings, Melanie, Carvalho, Claudia M.B., Gonzaga-Jauregui, Claudia G., Loy, Elizabeth, Jackson, Laird G., Krantz, Ian D., Deardorff, Matthew A., Lupski, James R.

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Utilization of Whole Exome Sequencing Data to Identify Clinically Relevant Pharmacogenomic Variants in Pediatric Inflammatory Bowel Disease -н Mulder, Daniel J., Khalouei, Sam, Warner, Neil, Gonzaga-Jauregui, Claudia, Church, Peter C., Walters, Thomas D., Ramani, Arun K., Griffiths, Anne M., Cohn, Iris, Muise, Aleixo M.

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A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes -н Hershkovitz, Tova, Kurolap, Alina, Tal, Galit, Paperna, Tamar, Mory, Adi, Staples, Jeffrey, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Dumin, Elena, Saada, Ann, Mandel, Hanna, Baris Feldman, Hagit

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Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B -н Williams, Katie B., Horst, Michael, Young, Millie, Pascua, Christine, Puffenberger, Erik G., Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Shuldiner, Alan R., Gidding, Samuel, Strauss, Kevin A., Chowdhury, Devyani

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The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease -н Dhingani, Neel, Guo, Conghui, Pan, Jie, Li, Qi, Warner, Neil, Jardine, Sasha, Leung, Gabriella, Kotlarz, Daniel, Gonzaga-Jauregui, Claudia, Klein, Christoph, Snapper, Scott B., Navas-López, Víctor Manuel, Muise, Aleixo M.

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Whole-Exome Sequencing Reveals GPIHBP1 Mutations in Infantile Colitis With Severe Hypertriglyceridemia -н Gonzaga-Jauregui, Claudia, Mir, Sabina, Penney, Samantha, Jhangiani, Shalini, Midgen, Craig, Finegold, Milton, Muzny, Donna M., Wang, Min, Bacino, Carlos A., Gibbs, Richard A., Lupski, James R., Kellermayer, Richard, Hanchard, Neil A.

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The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study -н Sukenik‐Halevy, Rivka, Perlman, Sharon, Ruhrman‐Shahar, Noa, Engel, Offra, Orenstein, Naama, Gonzaga‐Jauregui, Claudia, Shuldiner, Alan R., Magal, Nurit, Hagari, Ofir, Azulay, Noy, Lidzbarsky, Gabriel Arie, Bazak, Lily, Basel‐Salmon, Lina

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Identical repeated backbone of the human genome -н Zepeda-Mendoza, Cinthya J, Lemus, Tzitziki, Yáñez, Omar, García, Delfino, Valle-García, David, Meza-Sosa, Karla F, Gutiérrez-Arcelus, María, Márquez-Ortiz, Yamile, Domínguez-Vidaña, Rocío, Gonzaga-Jauregui, Claudia, Flores, Margarita, Palacios, Rafael

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Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy -н Lupski, James R, Gonzaga-Jauregui, Claudia, Yang, Yaping, Bainbridge, Matthew N, Jhangiani, Shalini, Buhay, Christian J, Kovar, Christie L, Wang, Min, Hawes, Alicia C, Reid, Jeffrey G, Eng, Christine, Muzny, Donna M, Gibbs, Richard A

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Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension -н Zhu, Na, Pauciulo, Michael W., Welch, Carrie L., Lutz, Katie A., Coleman, Anna W., Gonzaga-Jauregui, Claudia, Wang, Jiayao, Grimes, Joseph M., Martin, Lisa J., He, Hua, Shen, Yufeng, Chung, Wendy K., Nichols, William C.

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Correction to: Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension -н Zhu, Na, Pauciulo, Michael W., Welch, Carrie L., Lutz, Katie A., Coleman, Anna W., Gonzaga-Jauregui, Claudia, Wang, Jiayao, Grimes, Joseph M., Martin, Lisa J., He, Hua, Shen, Yufeng, Chung, Wendy K., Nichols, William C.

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Whole Exome Sequencing Identifies Three Novel Mutations in ANTXR1 in Families with GAPO Syndrome -н Bayram, Yavuz, Pehlivan, Davut, Karaca, Ender, Gambin, Tomasz, Jhangiani, Shalini N., Erdin, Serkan, Gonzaga-Jauregui, Claudia, Wiszniewski, Wojciech, Muzny, Donna, Elcioglu, Nursel H., Yildirim, M. Selman, Bozkurt, Banu, Zamani, Ayse Gul, Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R.

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Whole-Genome Sequencing for Optimized Patient Management -н Bainbridge, Matthew N., Wiszniewski, Wojciech, Murdock, David R., Friedman, Jennifer, Gonzaga-Jauregui, Claudia, Newsham, Irene, Reid, Jeffrey G., Fink, John K., Morgan, Margaret B., Gingras, Marie-Claude, Muzny, Donna M., Hoang, Linh D., Yousaf, Shahed, Lupski, James R., Gibbs, Richard A.

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