Bazam: a rapid method for read extraction and realignment of high-throughput sequencing data

af Sadedin, Simon P., Oshlack, Alicia
Udgivet i Genome Biol (2019)

Evolving Righteousness in a Corrupt World

af Duéñez-Guzmán, Edgar A., Sadedin, Suzanne
Udgivet 2012

Dual-phase evolution in complex adaptive systems

af Paperin, Greg, Green, David G., Sadedin, Suzanne
Udgivet 2011

Ximmer: a system for improving accuracy and consistency of CNV calling from exome data

af Sadedin, Simon P, Ellis, Justine A, Masters, Seth L, Oshlack, Alicia
Udgivet i Gigascience (2018)

De Novo Mutations in HNRNPU Result in a Neurodevelopmental Syndrome

af Yates, T Michael, Vasudevan, Pradeep, Chandler, Kate E, Donnelly, Deirdre E, Stark, Zornitza, Sadedin, Simon, Willoughby, Josh, Balasubramanian, Meena
Udgivet i Am J Med Genet A (2017)

Whole exome sequencing in systemic juvenile idiopathic arthritis

af Moghaddas, F, De Nardo, D, Baker, P, Gordon, L, Sadedin, S, Oshlack, A, Akikusa, J, Allen, R, Munro, J, Ellis, J, Masters, S
Udgivet i Pediatr Rheumatol Online J (2015)

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

af 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
Udgivet i Eur J Hum Genet (2017)

STRetch: detecting and discovering pathogenic short tandem repeat expansions

af 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
Udgivet i Genome Biol (2018)

Cpipe: a shared variant detection pipeline designed for diagnostic settings

af 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.
Udgivet i Genome Med (2015)

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

af 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.
Udgivet i Eur J Hum Genet (2019)

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

af 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
Udgivet i J Clin Med (2019)

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

af 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.
Udgivet i Am J Hum Genet (2020)

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

af 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.
Udgivet i Ann Clin Transl Neurol (2017)

Cerebral hypomyelination associated with biallelic variants of FIG4

af 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.
Udgivet i Hum Mutat (2019)

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

af 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.
Udgivet i JAMA Pediatr (2017)

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

af 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.
Udgivet i Am J Hum Genet (2021)

SYT1-associated neurodevelopmental disorder: a case series

af 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
Udgivet i Brain (2018)

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

af 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
Udgivet i Hum Mutat (2018)

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

af 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
Udgivet i Am J Hum Genet (2020)

Missense variant contribution to USP9X-female syndrome

af 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
Udgivet i NPJ Genom Med (2020)