Хайлтын үр дүнгүүд - Jobling, Rebekah

Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis -н Rayment, Jonathan H., Jobling, Rebekah, Bowdin, Sarah, Cutz, Ernest, Dell, Sharon D.

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Phenotypes and genotypes of mitochondrial aminoacyl‐tRNA synthetase deficiencies from a single neurometabolic clinic -н Al Balushi, Aaisha, Matviychuk, Diana, Jobling, Rebekah, Salomons, Gajja S., Blaser, Susan, Mercimek‐Andrews, Saadet

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Monozygotic Twins with Variable Expression of Van der Woude Syndrome -н Jobling, Rebekah, Ferrier, Raechel A., McLeod, Ross, Petrin, Aline Lourenco, Murray, Jeffrey C., Thomas, Mary Ann

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Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B -н Hannah-Shmouni, Fady, MacNeil, Lauren, Potter, Murray, Jobling, Rebekah, Yoon, Grace, Laughlin, Suzanne, Blaser, Susan, Inbar-Feigenberg, Michal

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Peroxisomal D-bifunctional protein deficiency: Three adults diagnosed by whole-exome sequencing -н Lines, Matthew A., Jobling, Rebekah, Brady, Lauren, Marshall, Christian R., Scherer, Stephen W., Rodriguez, Amadeo R., Lee, Liesly, Lang, Anthony E., Mestre, Tiago A., Wanders, Ronald J.A., Ferdinandusse, Sacha, Tarnopolsky, Mark A.

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GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation -н Manshaei, Roozbeh, DeLong, Sean, Andric, Veronica, Joshi, Esha, Okello, John B. A., Dhir, Priya, Somerville, Cherith, Farncombe, Kirsten M., Kalbfleisch, Kelsey, Jobling, Rebekah K., Scherer, Stephen W., Kim, Raymond H., Hosseini, S. Mohsen

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Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia -н Marshall, Christian R., Scherer, Stephen W., Zariwala, Maimoona A., Lau, Lynette, Paton, Tara A., Stockley, Tracy, Jobling, Rebekah K., Ray, Peter N., Knowles, Michael R., Hall, David A., Dell, Sharon D., Kim, Raymond H.

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Return of genetic and genomic research findings: experience of a pediatric biorepository -н Papaz, Tanya, Liston, Eriskay, Zahavich, Laura, Stavropoulos, Dimitri J., Jobling, Rebekah K., Kim, Raymond H., Reuter, Miriam, Miron, Anastasia, Oechslin, Erwin, Mondal, Tapas, Bergin, Lynn, Smythe, John F., Altamirano-Diaz, Luis, Lougheed, Jane, Yao, Roderick, Akinrinade, Oyediran, Breckpot, Jeroen, Mital, Seema

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Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot -н Reuter, Miriam S., Chaturvedi, Rajiv R., Jobling, Rebekah K., Pellecchia, Giovanna, Hamdan, Omar, Sung, Wilson W.L., Nalpathamkalam, Thomas, Attaluri, Pratyusha, Silversides, Candice K., Wald, Rachel M., Marshall, Christian R., Williams, Simon, Keavney, Bernard D., Thiruvahindrapuram, Bhooma, Scherer, Stephen W., Bassett, Anne S.

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Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting -н Cohn, Iris, Manshaei, Roozbeh, Liston, Eriskay, Okello, John B. A., Khan, Reem, Curtis, Meredith R., Krupski, Abby J., Jobling, Rebekah K., Kalbfleisch, Kelsey, Paton, Tara A., Reuter, Miriam S., Hayeems, Robin Z., Verstegen, Ruud H. J., Goldman, Aaron, Kim, Raymond H., Ito, Shinya

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Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing -н Costain, Gregory, Jobling, Rebekah, Walker, Susan, Reuter, Miriam S., Snell, Meaghan, Bowdin, Sarah, Cohn, Ronald D., Dupuis, Lucie, Hewson, Stacy, Mercimek-Andrews, Saadet, Shuman, Cheryl, Sondheimer, Neal, Weksberg, Rosanna, Yoon, Grace, Meyn, M. Stephen, Stavropoulos, Dimitri J., Scherer, Stephen W., Mendoza-Londono, Roberto, Marshall, Christian R.

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Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome -н Hosseini, S. Mohsen, Kim, Raymond, Udupa, Sharmila, Costain, Gregory, Jobling, Rebekah, Liston, Eriskay, Jamal, Seema M., Szybowska, Marta, Morel, Chantal F., Bowdin, Sarah, Garcia, John, Care, Melanie, Sturm, Amy C., Novelli, Valeria, Ackerman, Michael J., Ware, James S., Hershberger, Ray E., Wilde, Arthur A.M., Gollob, Michael H.

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Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot -н Reuter, Miriam S., Jobling, Rebekah, Chaturvedi, Rajiv R., Manshaei, Roozbeh, Costain, Gregory, Heung, Tracy, Curtis, Meredith, Hosseini, S. Mohsen, Liston, Eriskay, Lowther, Chelsea, Oechslin, Erwin, Sticht, Heinrich, Thiruvahindrapuram, Bhooma, Mil, Spencer van, Wald, Rachel M., Walker, Susan, Marshall, Christian R., Silversides, Candice K., Scherer, Stephen W., Kim, Raymond H., Bassett, Anne S.

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PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia -н Jobling, Rebekah K., Assoum, Mirna, Gakh, Oleksandr, Blaser, Susan, Raiman, Julian A., Mignot, Cyril, Roze, Emmanuel, Dürr, Alexandra, Brice, Alexis, Lévy, Nicolas, Prasad, Chitra, Paton, Tara, Paterson, Andrew D., Roslin, Nicole M., Marshall, Christian R., Desvignes, Jean-Pierre, Roëckel-Trevisiol, Nathalie, Scherer, Stephen W., Rouleau, Guy A., Mégarbané, André, Isaya, Grazia, Delague, Valérie, Yoon, Grace

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The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease -н Reuter, Miriam S., Chaturvedi, Rajiv R., Liston, Eriskay, Manshaei, Roozbeh, Aul, Ritu B., Bowdin, Sarah, Cohn, Iris, Curtis, Meredith, Dhir, Priya, Hayeems, Robin Z., Hosseini, S. Mohsen, Khan, Reem, Ly, Linh G., Marshall, Christian R., Mertens, Luc, Okello, John B. A., Pereira, Sergio L., Raajkumar, Akshaya, Seed, Mike, Thiruvahindrapuram, Bhooma, Scherer, Stephen W., Kim, Raymond H., Jobling, Rebekah K.

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Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences -н Manshaei, Roozbeh, Merico, Daniele, Reuter, Miriam S., Engchuan, Worrawat, Mojarad, Bahareh A., Chaturvedi, Rajiv, Heung, Tracy, Pellecchia, Giovanna, Zarrei, Mehdi, Nalpathamkalam, Thomas, Khan, Reem, Okello, John B. A., Liston, Eriskay, Curtis, Meredith, Yuen, Ryan K. C., Marshall, Christian R., Jobling, Rebekah K., Oechslin, Erwin, Wald, Rachel M., Silversides, Candice K., Scherer, Stephen W., Kim, Raymond H., Bassett, Anne S.

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Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila -н Straub, Jonas, Konrad, Enrico D.H., Grüner, Johanna, Toutain, Annick, Bok, Levinus A., Cho, Megan T., Crawford, Heather P., Dubbs, Holly, Douglas, Ganka, Jobling, Rebekah, Johnson, Diana, Krock, Bryan, Mikati, Mohamad A., Nesbitt, Addie, Nicolai, Joost, Phillips, Meredith, Poduri, Annapurna, Ortiz-Gonzalez, Xilma R., Powis, Zöe, Santani, Avni, Smith, Lacey, Stegmann, Alexander P.A., Stumpel, Constance, Vreeburg, Maaike, Fliedner, Anna, Gregor, Anne, Sticht, Heinrich, Zweier, Christiane

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Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation -н van der Welle, Reini E N, Jobling, Rebekah, Burns, Christian, Sanza, Paolo, van der Beek, Jan A, Fasano, Alfonso, Chen, Lan, Zwartkruis, Fried J, Zwakenberg, Susan, Griffin, Edward F, ten Brink, Corlinda, Veenendaal, Tineke, Liv, Nalan, van Ravenswaaij‐Arts, Conny M A, Lemmink, Henny H, Pfundt, Rolph, Blaser, Susan, Sepulveda, Carolina, Lozano, Andres M, Yoon, Grace, Santiago‐Sim, Teresa, Asensio, Cedric S, Caldwell, Guy A, Caldwell, Kim A, Chitayat, David, Klumperman, Judith

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Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice -н Martin, Ella M M A, Enriquez, Annabelle, Sparrow, Duncan B, Humphreys, David T, McInerney-Leo, Aideen M, Leo, Paul J, Duncan, Emma L, Iyer, Kavitha R, Greasby, Joelene A, Ip, Eddie, Giannoulatou, Eleni, Sheng, Delicia, Wohler, Elizabeth, Dimartino, Clémantine, Amiel, Jeanne, Capri, Yline, Lehalle, Daphné, Mory, Adi, Wilnai, Yael, Lebenthal, Yael, Gharavi, Ali G, Krzemień, Grażyna G, Miklaszewska, Monika, Steiner, Robert D, Raggio, Cathy, Blank, Robert, Baris Feldman, Hagit, Milo Rasouly, Hila, Sobreira, Nara L M, Jobling, Rebekah, Gordon, Christopher T, Giampietro, Philip F, Dunwoodie, Sally L, Chapman, Gavin

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Mutations in TOP3A Cause a Bloom Syndrome-like Disorder -н Martin, Carol-Anne, Sarlós, Kata, Logan, Clare V., Thakur, Roshan Singh, Parry, David A., Bizard, Anna H., Leitch, Andrea, Cleal, Louise, Ali, Nadia Shaukat, Al-Owain, Mohammed A., Allen, William, Altmüller, Janine, Aza-Carmona, Miriam, Barakat, Bushra A.Y., Barraza-García, Jimena, Begtrup, Amber, Bogliolo, Massimo, Cho, Megan T., Cruz-Rojo, Jaime, Dhahrabi, Hassan Ali Mundi, Elcioglu, Nursel H., Gorman, Gráinne S., Jobling, Rebekah, Kesterton, Ian, Kishita, Yoshihito, Kohda, Masakazu, Le Quesne Stabej, Polona, Malallah, Asam Jassim, Nürnberg, Peter, Ohtake, Akira, Okazaki, Yasushi, Pujol, Roser, Ramirez, Maria José, Revah-Politi, Anya, Shimura, Masaru, Stevens, Paul, Taylor, Robert W., Turner, Lesley, Williams, Hywel, Wilson, Carolyn, Yigit, Gökhan, Zahavich, Laura, Alkuraya, Fowzan S., Surralles, Jordi, Iglesais, Alejandro, Murayama, Kei, Wollnik, Bernd, Dattani, Mehul, Heath, Karen E., Hickson, Ian D., Jackson, Andrew P.

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