Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Npj Genomic Medicine
Stavropoulos, Dimitri J DJ; Merico, Daniele D; Jobling, Rebekah R; Bowdin, Sarah S; Monfared, Nasim N; Thiruvahindrapuram, Bhooma B; Nalpathamkalam, Thomas T; Pellecchia, Giovanna G; Yuen, Ryan K C RKC; Szego, Michael J MJ; Hayeems, Robin Z RZ; Shaul, Randi Zlotnik RZ; Brudno, Michael M; Girdea, Marta M; Frey, Brendan B; Alipanahi, Babak B; Ahmed, Sohnee S; Babul-Hirji, Riyana R; Porras, Ramses Badilla RB; Carter, Melissa T MT; Chad, Lauren L; Chaudhry, Ayeshah A; Chitayat, David D; Doust, Soghra Jougheh SJ; Cytrynbaum, Cheryl C; Dupuis, Lucie L; Ejaz, Resham R; Fishman, Leona L; Guerin, Andrea A; Hashemi, Bita B; Helal, Mayada M; Hewson, Stacy S; Inbar-Feigenberg, Michal M; Kannu, Peter P; Karp, Natalya N; Kim, Raymond R; Kronick, Jonathan J; Liston, Eriskay E; MacDonald, Heather H; Mercimek-Mahmutoglu, Saadet S; Mendoza-Londono, Roberto R; Nasr, Enas E; Nimmo, Graeme G; Parkinson, Nicole N; Quercia, Nada N; Raiman, Julian J; Roifman, Maian M; Schulze, Andreas A; Shugar, Andrea A; Shuman, Cheryl C; Sinajon, Pierre P; Siriwardena, Komudi K; Weksberg, Rosanna R; Yoon, Grace G; Carew, Chris C; Erickson, Raith R; Leach, Richard A RA; Klein, Robert R; Ray, Peter N PN; Meyn, M Stephen MS; Scherer, Stephen W SW; Cohn, Ronald D RD; Marshall, Christian R CR
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.
Circulation. Cardiovascular Genetics
Giudicessi, John R JR; Kapplinger, Jamie D JD; Tester, David J DJ; Alders, Marielle M; Salisbury, Benjamin A BA; Wilde, Arthur A M AA; Ackerman, Michael J MJ