Orkambi® and amplifier co‐therapy improves function from a rare CFTR mutation in gene‐edited cells and patient tissue von Molinski, Steven V, Ahmadi, Saumel, Ip, Wan, Ouyang, Hong, Villella, Adriana, Miller, John P, Lee, Po‐Shun, Kulleperuma, Kethika, Du, Kai, Di Paola, Michelle, Eckford, Paul DW, Laselva, Onofrio, Huan, Ling Jun, Wellhauser, Leigh, Li, Ellen, Ray, Peter N, Pomès, Régis, Moraes, Theo J, Gonska, Tanja, Ratjen, Felix, Bear, Christine E

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Recurrent Focal Copy-Number Changes and Loss of Heterozygosity Implicate Two Noncoding RNAs and One Tumor Suppressor Gene at Chromosome 3q13.31 in Osteosarcoma von PASIC, Ivan, SHLIEN, Adam, DURBIN, Adam D, STAVROPOULOS, Dimitrios J, BASKIN, Berivan, RAY, Peter N, NOVOKMET, Ana, MALKIN, David

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Universal Poor Survival in Children With Medulloblastoma Harboring Somatic TP53 Mutations von TABORI, Uri, BASKIN, Berivan, SHAGO, Mary, ALON, Noa, TAYLOR, Michael D, RAY, Peter N, BOUFFET, Eric, MALKIN, David, HAWKINS, Cynthia

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Research ethics recommendations for whole-genome research: consensus statement von Caulfield, Timothy, McGuire, Amy L, Cho, Mildred, Buchanan, Janet A, Burgess, Michael M, Danilczyk, Ursula, Diaz, Christina M, Fryer-Edwards, Kelly, Green, Shane K, Hodosh, Marc A, Juengst, Eric T, Kaye, Jane, Kedes, Laurence, Knoppers, Bartha Maria, Lemmens, Trudo, Meslin, Eric M, Murphy, Juli, Nussbaum, Robert L, Otlowski, Margaret, Pullman, Daryl, Ray, Peter N, Sugarman, Jeremy, Timmons, Michael

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Clinical and genetic study of hereditary spastic paraplegia in Canada von Chrestian, Nicolas, Dupré, Nicolas, Gan-Or, Ziv, Szuto, Anna, Chen, Shiyi, Venkitachalam, Anil, Brisson, Jean-Denis, Warman-Chardon, Jodi, Ahmed, Sohnee, Ashtiani, Setareh, MacDonald, Heather, Mohsin, Noreen, Mourabit-Amari, Karim, Provencher, Pierre, Boycott, Kym M, Stavropoulos, Dimitri J, Dion, Patrick A, Ray, Peter N, Suchowersky, Oksana, Rouleau, Guy A, Yoon, Grace

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Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia von 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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RNAseq analysis for the diagnosis of muscular dystrophy von Gonorazky, Hernan, Liang, Minggao, Cummings, Beryl, Lek, Monkol, Micallef, Johann, Hawkins, Cynthia, Basran, Raveen, Cohn, Ronald, Wilson, Michael D., MacArthur, Daniel, Marshall, Christian R., Ray, Peter N., Dowling, James J.

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Eye and Brain Abnormalities in Congenital Muscular Dystrophies Caused by Fukutin-Related Protein Gene (FKRP) Mutations von Kava, Maina, MD, Chitayat, David, MD, Blaser, Susan, MD, Ray, Peter N., PhD, Vajsar, Jiri, MD

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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test von Lionel, Anath C, Costain, Gregory, Monfared, Nasim, Walker, Susan, Reuter, Miriam S, Hosseini, S Mohsen, Thiruvahindrapuram, Bhooma, Merico, Daniele, Jobling, Rebekah, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Sung, Wilson W L, Wang, Zhuozhi, Bikangaga, Peter, Boelman, Cyrus, Carter, Melissa T, Cordeiro, Dawn, Cytrynbaum, Cheryl, Dell, Sharon D, Dhir, Priya, Dowling, James J, Heon, Elise, Hewson, Stacy, Hiraki, Linda, Inbar-Feigenberg, Michal, Klatt, Regan, Kronick, Jonathan, Laxer, Ronald M, Licht, Christoph, MacDonald, Heather, Mercimek-Andrews, Saadet, Mendoza-Londono, Roberto, Piscione, Tino, Schneider, Rayfel, Schulze, Andreas, Silverman, Earl, Siriwardena, Komudi, Snead, O Carter, Sondheimer, Neal, Sutherland, Joanne, Vincent, Ajoy, Wasserman, Jonathan D, Weksberg, Rosanna, Shuman, Cheryl, Carew, Chris, Szego, Michael J, Hayeems, Robin Z, Basran, Raveen, Stavropoulos, Dimitri J, Ray, Peter N, Bowdin, Sarah, Meyn, M Stephen, Cohn, Ronald D, Scherer, Stephen W, Marshall, Christian R

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Whole-genome sequencing of quartet families with autism spectrum disorder von Yuen, Ryan K C, Thiruvahindrapuram, Bhooma, Merico, Daniele, Walker, Susan, Tammimies, Kristiina, Hoang, Ny, Chrysler, Christina, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Liu, Yi, Gazzellone, Matthew J, D'Abate, Lia, Deneault, Eric, Howe, Jennifer L, Liu, Richard S C, Thompson, Ann, Zarrei, Mehdi, Uddin, Mohammed, Marshall, Christian R, Ring, Robert H, Zwaigenbaum, Lonnie, Ray, Peter N, Weksberg, Rosanna, Carter, Melissa T, Fernandez, Bridget A, Roberts, Wendy, Szatmari, Peter, Scherer, Stephen W

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Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study von Cohn, Iris, Paton, Tara A., Marshall, Christian R., Basran, Raveen, Stavropoulos, Dimitri J., Ray, Peter N., Monfared, Nasim, Hayeems, Robin Z., Meyn, M. Stephen, Bowdin, Sarah, Scherer, Stephen W., Cohn, Ronald D., Ito, Shinya

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BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma von Mistry, Matthew, Zhukova, Nataliya, Merico, Daniele, Rakopoulos, Patricia, Krishnatry, Rahul, Shago, Mary, Stavropoulos, James, Alon, Noa, Pole, Jason D, Ray, Peter N, Navickiene, Vilma, Mangerel, Joshua, Remke, Marc, Buczkowicz, Pawel, Ramaswamy, Vijay, Guerreiro Stucklin, Ana, Li, Martin, Young, Edwin J, Zhang, Cindy, Castelo-Branco, Pedro, Bakry, Doua, Laughlin, Suzanne, Shlien, Adam, Chan, Jennifer, Ligon, Keith L, Rutka, James T, Dirks, Peter B, Taylor, Michael D, Greenberg, Mark, Malkin, David, Huang, Annie, Bouffet, Eric, Hawkins, Cynthia E, Tabori, Uri

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Analysis of the glucocerebrosidase gene in Parkinson's disease von Sato, Christine, Morgan, Angharad, Lang, Anthony E., Salehi-Rad, Shabnam, Kawarai, Toshitaka, Meng, Yan, Ray, Peter N., Farrer, Lindsay A., St George-Hyslop, Peter, Rogaeva, Ekaterina

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Identification of deleterious synonymous variants in human genomes von Buske, Orion J, Manickaraj, AshokKumar, Mital, Seema, Ray, Peter N, Brudno, Michael

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PhenoTips: Patient Phenotyping Software for Clinical and Research Use von Girdea, Marta, Dumitriu, Sergiu, Fiume, Marc, Bowdin, Sarah, Boycott, Kym M., Chénier, Sébastien, Chitayat, David, Faghfoury, Hanna, Meyn, M. Stephen, Ray, Peter N., So, Joyce, Stavropoulos, Dimitri J., Brudno, Michael

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The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle von Zubrzycka-Gaarn, Elizabeth E, Bulman, Dennis E, Karpati, George, Burghes, Arthur H. M, Belfall, Bonnie, Klamut, Henry J, Talbot, Jim, Hodges, Robert S, Ray, Peter N, Worton, Ronald G

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Subgroup-Specific Prognostic Implications of TP53 Mutation in Medulloblastoma von ZHUKOVA, Nataliya, RAMASWAMY, Vijay, VON BUEREN, André O, JONES, David T. W, NORTHCOTT, Paul A, KOOL, Marcel, STURM, Dominik, PUGH, Trevor J, POMEROY, Scott L, CHO, Yoon-Jae, PIETSCH, Torsten, GESSI, Marco, REMKE, Marc, RUTKOWSKI, Stefan, BOGNAR, Laszlo, KLEKNER, Almos, CHO, Byung-Kyu, KIM, Seung-Ki, WANG, Kyu-Chang, EBERHART, Charles G, FEVRE-MONTANGE, Michelle, FOULADI, Maryam, FRENCH, Pim J, PFAFF, Elke, KROS, Max, GRAJKOWSKA, Wieslawa A, GUPTA, Nalin, WEISS, William A, HAUSER, Peter, JABADO, Nada, JOUVET, Anne, SHIN JUNG, KUMABE, Toshihiro, LACH, Boleslaw, SHIH, David J. H, LEONARD, Jeffrey R, RUBIN, Joshua B, LIAU, Linda M, MASSIMI, Luca, POLLACK, Ian F, YOUNG SHIN RA, VAN MEIR, Erwin G, ZITTERBART, Karel, SCHÜLLER, Ulrich, HILL, Rebecca M, MARTIN, Dianna C, LINDSEY, Janet C, SCHWALBE, Ed C, BAILEY, Simon, ELLISON, David W, HAWKINS, Cynthia, MALKIN, David, CLIFFORD, Steven C, KORSHUNOV, Andrey, PFISTER, Stefan, TAYLOR, Michael D, CASTELO-BRANCO, Pedro, BASKIN, Berivan, RAY, Peter N, BOUFFET, Eric

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Paternal isodisomy of chromosome 2 as a cause of long chain 3‐hydroxyacyl‐CoA dehydrogenase (LCHAD) deficiency von Baskin, Berivan, Geraghty, Michael, Ray, Peter N.

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Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB von O'Brien, Alan, Marshall, Christian R, Blaser, Susan, Ray, Peter N, Yoon, Grace

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Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine von Stavropoulos, Dimitri J, Merico, Daniele, Jobling, Rebekah, Bowdin, Sarah, Monfared, Nasim, Thiruvahindrapuram, Bhooma, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Yuen, Ryan K C, Szego, Michael J, Hayeems, Robin Z, Shaul, Randi Zlotnik, Brudno, Michael, Girdea, Marta, Frey, Brendan, Alipanahi, Babak, Ahmed, Sohnee, Babul-Hirji, Riyana, Porras, Ramses Badilla, Carter, Melissa T, Chad, Lauren, Chaudhry, Ayeshah, Chitayat, David, Doust, Soghra Jougheh, Cytrynbaum, Cheryl, Dupuis, Lucie, Ejaz, Resham, Fishman, Leona, Guerin, Andrea, Hashemi, Bita, Helal, Mayada, Hewson, Stacy, Inbar-Feigenberg, Michal, Kannu, Peter, Karp, Natalya, Kim, Raymond H, Kronick, Jonathan, Liston, Eriskay, MacDonald, Heather, Mercimek-Mahmutoglu, Saadet, Mendoza-Londono, Roberto, Nasr, Enas, Nimmo, Graeme, Parkinson, Nicole, Quercia, Nada, Raiman, Julian, Roifman, Maian, Schulze, Andreas, Shugar, Andrea, Shuman, Cheryl, Sinajon, Pierre, Siriwardena, Komudi, Weksberg, Rosanna, Yoon, Grace, Carew, Chris, Erickson, Raith, Leach, Richard A, Klein, Robert, Ray, Peter N, Meyn, M Stephen, Scherer, Stephen W, Cohn, Ronald D, Marshall, Christian R

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