Хайлтын үр дүнгүүд - Saunders, Carol J.

Deep Sequencing of Patient Genomes for Disease Diagnosis: When Will It Become Routine? -н Kingsmore, Stephen F., Saunders, Carol J.

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Variation among Consent Forms for Clinical Whole Exome Sequencing -н Fowler, Sara A., Saunders, Carol J., Hoffman, Mark A.

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Genomic medicine: evolving science, evolving ethics -н Soden, Sarah E, Farrow, Emily G, Saunders, Carol J, Lantos, John D

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Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing -н Kingsmore, Stephen F, Dinwiddie, Darrell L, Miller, Neil A, Soden, Sarah E, Saunders, Carol J

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A novel likely pathogenic variant in a patient with Hermansky–Pudlak syndrome -н Lansdon, Lisa A., Chen, Dong, Rush, Eric T., Engleman, Kendra, Zhang, Lei, Saunders, Carol J., Oroszi, Gabor

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Next-generation community genetics for low- and middle-income countries -н Kingsmore, Stephen F, Lantos, John D, Dinwiddie, Darrell L, Miller, Neil A, Soden, Sarah E, Farrow, Emily G, Saunders, Carol J

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De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies -н Dinwiddie, Darrell L, Soden, Sarah E, Saunders, Carol J, Miller, Neil A, Farrow, Emily G, Smith, Laurie D, Kingsmore, Stephen F

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Hemoglobin Lake Tapawingo [α46 (CE4)Phe→Ser; HBA2:c.140T>C]: a New Unstable α Chain Hemoglobin Variant Associated with Low Systemic Arterial Saturation -н Guest, Erin M., Neville, Kathleen A., Hoyer, James D., Safo, Martin K., Garg, Uttam, Saunders, Carol J., Abdulmalik, Osheiza, Zwick, David L.

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Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome -н Dinwiddie, Darrell L., Smith, Laurie D., Miller, Neil A., Atherton, Andrea M., Farrow, Emily G., Strenk, Meghan E., Soden, Sarah E., Saunders, Carol J., Kingsmore, Stephen F.

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Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing -н Gallo, Vera, Dotta, Laura, Giardino, Giuliana, Cirillo, Emilia, Lougaris, Vassilios, D’Assante, Roberta, Prandini, Alberto, Consolini, Rita, Farrow, Emily G., Thiffault, Isabelle, Saunders, Carol J., Leonardi, Antonio, Plebani, Alessandro, Badolato, Raffaele, Pignata, Claudio

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Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing -н Dinwiddie, Darrell L., Bracken, Julia M., Bass, Julie A., Christenson, Kathy, Soden, Sarah E., Saunders, Carol J., Miller, Neil A., Singh, Vivekanand, Zwick, David L., Roberts, Charles C., Dalal, Jignesh, Kingsmore, Stephen F.

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Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A(2)γ recapitulate the mitochondriopathy of the homologous null mouse -н Saunders, Carol J., Moon, Sung Ho, Liu, Xinping, Thiffault, Isabelle, Coffman, Keith, LePichon, Jean-Baptiste, Taboada, Eugenio, Smith, Laurie D., Farrow, Emily G., Miller, Neil, Gibson, Margaret, Patterson, Melanie, Kingsmore, Stephen F., Gross, Richard W.

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Clinical detection of deletion structural variants in whole-genome sequences -н Noll, Aaron C, Miller, Neil A, Smith, Laurie D, Yoo, Byunggil, Fiedler, Stephanie, Cooley, Linda D, Willig, Laurel K, Petrikin, Josh E, Cakici, Julie, Lesko, John, Newton, Angela, Detherage, Kali, Thiffault, Isabelle, Saunders, Carol J, Farrow, Emily G, Kingsmore, Stephen F

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Combined DOCK8 and CLEC7A mutations causing immunodeficiency in three brothers with diarrhea, eczema and infections -н Dinwiddie, Darrell L., Kingsmore, Stephen F., Caracciolo, Sonia, Rossi, Giuseppe, Moratto, Daniele, Mazza, Cinzia, Sabelli, Cristiano, Bacchetta, Rosa, Passerini, Laura, Magri, Chiara, Bell, Callum J., Miller, Neil A., Hateley, Shannon L., Saunders, Carol J., Zhang, Lu, Schroth, Gary P., Barlati, Sergio, Badolato, Raffaele

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The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants -н Petrikin, Josh E., Cakici, Julie A., Clark, Michelle M., Willig, Laurel K., Sweeney, Nathaly M., Farrow, Emily G., Saunders, Carol J., Thiffault, Isabelle, Miller, Neil A., Zellmer, Lee, Herd, Suzanne M., Holmes, Anne M., Batalov, Serge, Veeraraghavan, Narayanan, Smith, Laurie D., Dimmock, David P., Leeder, J. Steven, Kingsmore, Stephen F.

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A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases -н Miller, Neil A., Farrow, Emily G., Gibson, Margaret, Willig, Laurel K., Twist, Greyson, Yoo, Byunggil, Marrs, Tyler, Corder, Shane, Krivohlavek, Lisa, Walter, Adam, Petrikin, Josh E., Saunders, Carol J., Thiffault, Isabelle, Soden, Sarah E., Smith, Laurie D., Dinwiddie, Darrell L., Herd, Suzanne, Cakici, Julie A., Catreux, Severine, Ruehle, Mike, Kingsmore, Stephen F.

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Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine -н Faundes, Víctor, Jennings, Martin D., Crilly, Siobhan, Legraie, Sarah, Withers, Sarah E., Cuvertino, Sara, Davies, Sally J., Douglas, Andrew G. L., Fry, Andrew E., Harrison, Victoria, Amiel, Jeanne, Lehalle, Daphné, Newman, William G., Newkirk, Patricia, Ranells, Judith, Splitt, Miranda, Cross, Laura A., Saunders, Carol J., Sullivan, Bonnie R., Granadillo, Jorge L., Gordon, Christopher T., Kasher, Paul R., Pavitt, Graham D., Banka, Siddharth

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Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings -н Willig, Laurel K, Petrikin, Josh E, Smith, Laurie D, Saunders, Carol J, Thiffault, Isabelle, Miller, Neil A, Soden, Sarah E, Cakici, Julie A, Herd, Suzanne M, Twist, Greyson, Noll, Aaron, Creed, Mitchell, Alba, Patria M, Carpenter, Shannon L, Clements, Mark A, Fischer, Ryan T, Hays, J Allyson, Kilbride, Howard, McDonough, Ryan J, Rosterman, Jamie L, Tsai, Sarah L, Zellmer, Lee, Farrow, Emily G, Kingsmore, Stephen F

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Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders -н Soden, Sarah E., Saunders, Carol J., Willig, Laurel K., Farrow, Emily G., Smith, Laurie D., Petrikin, Josh E., LePichon, Jean-Baptiste, Miller, Neil A., Thiffault, Isabelle, Dinwiddie, Darrell L., Twist, Greyson, Noll, Aaron, Heese, Bryce A., Zellmer, Lee, Atherton, Andrea M., Abdelmoity, Ahmed T., Safina, Nicole, Nyp, Sarah S., Zuccarelli, Britton, Larson, Ingrid A., Modrcin, Ann, Herd, Suzanne, Creed, Mitchell, Ye, Zhaohui, Yuan, Xuan, Brodsky, Robert A., Kingsmore, Stephen F.

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Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy -н Flex, Elisabetta, Niceta, Marcello, Cecchetti, Serena, Thiffault, Isabelle, Au, Margaret G., Capuano, Alessandro, Piermarini, Emanuela, Ivanova, Anna A., Francis, Joshua W., Chillemi, Giovanni, Chandramouli, Balasubramanian, Carpentieri, Giovanna, Haaxma, Charlotte A., Ciolfi, Andrea, Pizzi, Simone, Douglas, Ganka V., Levine, Kara, Sferra, Antonella, Dentici, Maria Lisa, Pfundt, Rolph R., Le Pichon, Jean-Baptiste, Farrow, Emily, Baas, Frank, Piemonte, Fiorella, Dallapiccola, Bruno, Graham, John M., Saunders, Carol J., Bertini, Enrico, Kahn, Richard A., Koolen, David A., Tartaglia, Marco

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