نتائج البحث - Sadedin, Simon

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data حسب 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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

STRetch: detecting and discovering pathogenic short tandem repeat expansions حسب 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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Cpipe: a shared variant detection pipeline designed for diagnostic settings حسب 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.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis حسب 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.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants حسب 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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures حسب 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.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy حسب 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.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Cerebral hypomyelination associated with biallelic variants of FIG4 حسب 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.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions حسب 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.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome حسب 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.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

SYT1-associated neurodevelopmental disorder: a case series حسب 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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery حسب 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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Lessons learned from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program حسب 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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling حسب 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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Missense variant contribution to USP9X-female syndrome حسب 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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase حسب 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.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus حسب 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.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل