Sökresultat - Sadedin, Simon

Bazam: a rapid method for read extraction and realignment of high-throughput sequencing data av Sadedin, Simon P., Oshlack, Alicia

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Ximmer: a system for improving accuracy and consistency of CNV calling from exome data av Sadedin, Simon P, Ellis, Justine A, Masters, Seth L, Oshlack, Alicia

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De Novo Mutations in HNRNPU Result in a Neurodevelopmental Syndrome av Yates, T Michael, Vasudevan, Pradeep, Chandler, Kate E, Donnelly, Deirdre E, Stark, Zornitza, Sadedin, Simon, Willoughby, Josh, Balasubramanian, Meena

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A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data av Stark, Zornitza, Dashnow, Harriet, Lunke, Sebastian, Tan, Tiong Y, Yeung, Alison, Sadedin, Simon, Thorne, Natalie, Macciocca, Ivan, Gaff, Clara, Oshlack, Alicia, White, Susan M, James, Paul A

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STRetch: detecting and discovering pathogenic short tandem repeat expansions av Dashnow, Harriet, Lek, Monkol, Phipson, Belinda, Halman, Andreas, Sadedin, Simon, Lonsdale, Andrew, Davis, Mark, Lamont, Phillipa, Clayton, Joshua S., Laing, Nigel G., MacArthur, Daniel G., Oshlack, Alicia

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Cpipe: a shared variant detection pipeline designed for diagnostic settings av Sadedin, Simon P., Dashnow, Harriet, James, Paul A., Bahlo, Melanie, Bauer, Denis C., Lonie, Andrew, Lunke, Sebastian, Macciocca, Ivan, Ross, Jason P., Siemering, Kirby R., Stark, Zornitza, White, Susan M., Taylor, Graham, Gaff, Clara, Oshlack, Alicia, Thorne, Natalie P.

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A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis av Tan, Tiong Yang, Lunke, Sebastian, Chong, Belinda, Phelan, Dean, Fanjul-Fernandez, Miriam, Marum, Justine E., Kumar, Vanessa Siva, Stark, Zornitza, Yeung, Alison, Brown, Natasha J., Stutterd, Chloe, Delatycki, Martin B., Sadedin, Simon, Martyn, Melissa, Goranitis, Ilias, Thorne, Natalie, Gaff, Clara L., White, Susan M.

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Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants av Rius, Rocio, Van Bergen, Nicole J., Compton, Alison G., Riley, Lisa G., Kava, Maina P., Balasubramaniam, Shanti, Amor, David J., Fanjul-Fernandez, Miriam, Cowley, Mark J., Fahey, Michael C., Koenig, Mary K., Enns, Gregory M., Sadedin, Simon, Wilson, Meredith J., Tan, Tiong Y., Thorburn, David R., Christodoulou, John

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Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures av Tan, Tiong Yang, Sedmík, Jiří, Fitzgerald, Mark P., Halevy, Rivka Sukenik, Keegan, Liam P., Helbig, Ingo, Basel-Salmon, Lina, Cohen, Lior, Straussberg, Rachel, Chung, Wendy K., Helal, Mayada, Maroofian, Reza, Houlden, Henry, Juusola, Jane, Sadedin, Simon, Pais, Lynn, Howell, Katherine B., White, Susan M., Christodoulou, John, O’Connell, Mary A.

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Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy av Walsh, Maie, Bell, Katrina M., Chong, Belinda, Creed, Emma, Brett, Gemma R., Pope, Kate, Thorne, Natalie P., Sadedin, Simon, Georgeson, Peter, Phelan, Dean G., Day, Timothy, Taylor, Jessica A., Sexton, Adrienne, Lockhart, Paul J., Kiers, Lynette, Fahey, Michael, Macciocca, Ivan, Gaff, Clara L., Oshlack, Alicia, Yiu, Eppie M., James, Paul A., Stark, Zornitza, Ryan, Monique M.

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Cerebral hypomyelination associated with biallelic variants of FIG4 av Lenk, Guy M., Berry, Ian R., Stutterd, Chloe A., Blyth, Moira, Green, Lydia, Vadlamani, Gayatri, Warren, Daniel, Craven, Ian, Miriam, Fanjul-Fernandez, Victoria, Rodriguez-Casero, Lockhart, Paul J, Vanderver, Adeline, Simons, Cas, Gibb, Susan, Sadedin, Simon, White, Susan M., Christodoulou, John, Skibina, Olga, Ruddle, Jonathan, Tan, Tiong Y., Leventer, Richard J., Livingston, John H., Meisler, Miriam H.

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Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions av Tan, Tiong Yang, Dillon, Oliver James, Stark, Zornitza, Schofield, Deborah, Alam, Khurshid, Shrestha, Rupendra, Chong, Belinda, Phelan, Dean, Brett, Gemma R., Creed, Emma, Jarmolowicz, Anna, Yap, Patrick, Walsh, Maie, Downie, Lilian, Amor, David J., Savarirayan, Ravi, McGillivray, George, Yeung, Alison, Peters, Heidi, Robertson, Susan J., Robinson, Aaron J., Macciocca, Ivan, Sadedin, Simon, Bell, Katrina, Oshlack, Alicia, Georgeson, Peter, Thorne, Natalie, Gaff, Clara, White, Susan M.

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A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome av White, Susan M., Bhoj, Elizabeth, Nellåker, Christoffer, Lachmeijer, Augusta M.A., Marshall, Aren E., Boycott, Kym M., Li, Dong, Smith, Wendy, Hartley, Taila, McBride, Arran, Ernst, Michelle E., May, Alison S., Wieczorek, Dagmar, Abou Jamra, Rami, Koch-Hogrebe, Margarete, Õunap, Katrin, Pajusalu, Sander, van Gassen, K.L.I., Sadedin, Simon, Ellingwood, Sara, Tan, Tiong Yang, Christodoulou, John, Barea, Jaime, Lockhart, Paul J., Nezarati, Marjan M., Kernohan, Kristin D.

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SYT1-associated neurodevelopmental disorder: a case series av Baker, Kate, Gordon, Sarah L, Melland, Holly, Bumbak, Fabian, Scott, Daniel J, Jiang, Tess J, Owen, David, Turner, Bradley J, Boyd, Stewart G, Rossi, Mari, Al-Raqad, Mohammed, Elpeleg, Orly, Peck, Dawn, Mancini, Grazia M S, Wilke, Martina, Zollino, Marcella, Marangi, Giuseppe, Weigand, Heike, Borggraefe, Ingo, Haack, Tobias, Stark, Zornitza, Sadedin, Simon, Tan, Tiong Yang, Jiang, Yunyun, Gibbs, Richard A, Ellingwood, Sara, Amaral, Michelle, Kelley, Whitley, Kurian, Manju A, Cousin, Michael A, Raymond, F Lucy

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Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery av Kumar, Raman, Gardner, Alison, Homan, Claire C, Douglas, Evelyn, Mefford, Heather, Wieczorek, Dagmar, Lüdecke, Hermann-Josef, Stark, Zornitza, Sadedin, Simon, Nowak, Catherine Bearce, Douglas, Jessica, Parsons, Gretchen, Mark, Paul, Loidi, Lourdes, Herman, Gail E, Mosher, Theresa Mihalic, Gillespie, Meredith K, Brady, Lauren, Tarnopolsky, Mark, Madrigal, Irene, Eiris, Jesús, Salgado, Laura Domènech, Rabionet, Raquel, Strom, Tim M, Ishihara, Naoko, Inagaki, Hidehito, Kurahashi, Hiroki, Dudding-Byth, Tracy, Palmer, Elizabeth E, Field, Michael, Gecz, Jozef

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Lessons learned from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program av Cloney, Thomas, Gallacher, Lyndon, Pais, Lynn, Tan, Natalie B., Yeung, Alison, Stark, Zornitza, Brown, Natasha J, McGillivray, George, Delatycki, Martin B, de Silva, Michelle G., Downie, Lilian, Stutterd, Chloe A., Elliott, Justine, Compton, Alison G., Lovgren, Alysia, Oertel, Ralph, Francis, David, Bell, Katrina, Sadedin, Simon, Lim, Sze Chern, Helman, Guy, Simons, Cas, MacArthur, Daniel G., Thorburn, David R, O’Donnell-Luria, Anne, Christodoulou, John, White, Susan M., Tan, Tiong Yang

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Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling av Le, Thuy-Linh, Sribudiani, Yunia, Dong, Xiaomin, Huber, Céline, Kois, Chelsea, Baujat, Geneviève, Gordon, Christopher T., Mayne, Valerie, Galmiche, Louise, Serre, Valérie, Goudin, Nicolas, Zarhrate, Mohammed, Bole-Feysot, Christine, Masson, Cécile, Nitschké, Patrick, Verheijen, Frans W., Pais, Lynn, Pelet, Anna, Sadedin, Simon, Pugh, John A., Shur, Natasha, White, Susan M., El Chehadeh, Salima, Christodoulou, John, Cormier-Daire, Valérie, Hofstra, R.M.W., Lyonnet, Stanislas, Tan, Tiong Yang, Attié-Bitach, Tania, Kerstjens-Frederikse, Wilhelmina S., Amiel, Jeanne, Thomas, Sophie

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Missense variant contribution to USP9X-female syndrome av Jolly, Lachlan A., Parnell, Euan, Gardner, Alison E., Corbett, Mark A., Pérez-Jurado, Luis A., Shaw, Marie, Lesca, Gaetan, Keegan, Catherine, Schneider, Michael C., Griffin, Emily, Maier, Felicitas, Kiss, Courtney, Guerin, Andrea, Crosby, Kathleen, Rosenbaum, Kenneth, Tanpaiboon, Pranoot, Whalen, Sandra, Keren, Boris, McCarrier, Julie, Basel, Donald, Sadedin, Simon, White, Susan M., Delatycki, Martin B., Kleefstra, Tjitske, Küry, Sébastien, Brusco, Alfredo, Sukarova-Angelovska, Elena, Trajkova, Slavica, Yoon, Sehoun, Wood, Stephen A., Piper, Michael, Penzes, Peter, Gecz, Jozef

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WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase av Waddell, Leigh B., Bryen, Samantha J., Cummings, Beryl B., Bournazos, Adam, Evesson, Frances J., Joshi, Himanshu, Marshall, Jamie L., Tukiainen, Taru, Valkanas, Elise, Weisburd, Ben, Sadedin, Simon, Davis, Mark R., Faiz, Fathimath, Gooding, Rebecca, Sandaradura, Sarah A., O'Grady, Gina L., Tchan, Michel C., Mowat, David R., Oates, Emily C., Farrar, Michelle A., Sampaio, Hugo, Ma, Alan, Neas, Katherine, Wang, Min-Xia, Charlton, Amanda, Chan, Charles, Kenwright, Diane N., Graf, Nicole, Arbuckle, Susan, Clarke, Nigel F., MacArthur, Daniel G., Jones, Kristi J., Lek, Monkol, Cooper, Sandra T.

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Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus av Frazier, Ann E., Compton, Alison G., Kishita, Yoshihito, Hock, Daniella H., Welch, AnneMarie E., Amarasekera, Sumudu S.C., Rius, Rocio, Formosa, Luke E., Imai-Okazaki, Atsuko, Francis, David, Wang, Min, Lake, Nicole J., Tregoning, Simone, Jabbari, Jafar S., Lucattini, Alexis, Nitta, Kazuhiro R., Ohtake, Akira, Murayama, Kei, Amor, David J., McGillivray, George, Wong, Flora Y., van der Knaap, Marjo S., Jeroen Vermeulen, R., Wiltshire, Esko J., Fletcher, Janice M., Lewis, Barry, Baynam, Gareth, Ellaway, Carolyn, Balasubramaniam, Shanti, Bhattacharya, Kaustuv, Freckmann, Mary-Louise, Arbuckle, Susan, Rodriguez, Michael, Taft, Ryan J., Sadedin, Simon, Cowley, Mark J., Minoche, André E., Calvo, Sarah E., Mootha, Vamsi K., Ryan, Michael T., Okazaki, Yasushi, Stroud, David A., Simons, Cas, Christodoulou, John, Thorburn, David R.

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