Not logged inGenome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial
Kingsmore, Stephen F.; Wright, Meredith; Olsen, Lauren; Schultz, Brandan; Protopsaltis, Liana; Averbuj, Dan; Blincow, Eric; Carroll, Jeanne; Caylor, Sara; Defay, Thomas; Ellsworth, Katarzyna; Feigenbaum, Annette; Gover, Mia; Guidugli, Lucia; Hansen, Christian; Van Der Kraan, Lucita; Kunard, Chris M.; Kwon, Hugh; Madhavrao, Lakshminarasimha; Leipzig, Jeremy; Liang, Yupu; Mardach, Rebecca; Mowrey, William R.; Nguyen, Hung; Niemi, Anna-Kaisa; Oh, Danny; Saad, Muhammed; Scharer, Gunter; Schleit, Jennifer; Mehtalia, Shyamal S.; Sanford, Erica; Smith, Laurie D.; Willis, Mary J.; Wigby, Kristen; Reimers, Rebecca .png)
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SaveShare Save Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, CanadaKaraceper, Maria D.; Khangura, Sara D.; Wilson, Kumanan; Coyle, Doug; Brownell, Marni; Davies, Christine; Dodds, Linda; Feigenbaum, Annette; Fell, Deshayne B.; Grosse, Scott D.; Guttmann, Astrid; Hawken, Steven; Hayeems, Robin Z.; Kronick, Jonathan B.; Laberge, Anne-Marie; Little, Julian; Mhanni, Aizeddin; Mitchell, John J.; Nakhla, Meranda; Potter, Murray; Prasad, Chitra; Rockman-Greenberg, Cheryl; Sparkes, Rebecca; Stockler, Sylvia; Ueda, Keiko; Vallance, Hilary; Wilson, Brenda J.; Chakraborty, Pranesh; Potter, Beth K. Share Save Management of ophthalmologic manifestations of mitochondrial diseases ResponseParikh, Sumit; Goldstein, Amy; Karaa, Amel; Koenig, Mary Kay; Anselm, Irina; Brunel-Guitton, Catherine; Christodoulou, John; Cohen, Bruce H.; Dimmock, David; Enns, Gregory M.; Falk, Marni J.; Feigenbaum, Annette; Frye, Richard E.; Ganesh, Jaya; Griesemer, David; Haas, Richard; Horvath, Rita; Korson, Mark; Kruer, Michael C.; Mancuso, Michelangelo; McCormack, Shana; Raboisson, Marie Josee; Reimschisel, Tyler; Salvarinova, Ramona; Saneto, Russell P.; Scaglia, Fernando; Shoffner, John; Stacpoole, Peter W.; Sue, Carolyn M.; Tarnopolsky, Mark; Van Karnebeek, Clara; Wolfe, Lynne A.; Cunningham, Zarazuela Zolkipli; Rahman, Shamima; Chinnery, Patrick F. Share Save The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort studyKaraceper, Maria D.; Chakraborty, Pranesh; Coyle, Doug; Wilson, Kumanan; Kronick, Jonathan B.; Hawken, Steven; Davies, Christine; Brownell, Marni; Dodds, Linda; Feigenbaum, Annette; Fell, Deshayne B.; Grosse, Scott D.; Guttmann, Astrid; Laberge, Anne-Marie; Mhanni, Aizeddin; Miller, Fiona A.; Mitchell, John J.; Nakhla, Meranda; Prasad, Chitra; Rockman-Greenberg, Cheryl; Sparkes, Rebecca; Wilson, Brenda J.; Potter, Beth K. Share Save Share Save A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten SyndromeRutsch, Frank; MacDougall, Mary; Lu, Changming; Buers, Insa; Mamaeva, Olga; Nitschke, Yvonne; Rice, Gillian I.; Erlandsen, Heidi; Kehl, Hans Gerd; Thiele, Holger; Nuernberg, Peter; Hoehne, Wolfgang; Crow, Yanick J.; Feigenbaum, Annette; Hennekam, Raoul C. Share Save Achieving the triple aim for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence frameworkPotter, Beth K.; Chakraborty, Pranesh; Kronick, Jonathan B.; Wilson, Kumanan; Coyle, Doug; Feigenbaum, Annette; Geraghty, Michael T.; Karaceper, Maria D.; Little, Julian; Mhanni, Aizeddin; Mitchell, John J.; Siriwardena, Komudi; Wilson, Brenda J.; Syrowatka, Ania Share Save Share Save A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiencyArnold, Georgianne L.; Van Hove, Johan; Freedenberg, Debra; Strauss, Arnold; Longo, Nicola; Burton, Barbara; Garganta, Cheryl; Ficicioglu, Can; Cederbaum, Stephen; Harding, Cary; Boles, Richard G.; Matern, Dietrich; Chakraborty, Pranesh; Feigenbaum, Annette Share Save Share Save Share Save Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutationsCarbone, MA; MacKay, N; Ling, MF; Cole, DEC; Douglas, C; Rigat, B; Feigenbaum, A; Clarke, JTR; Haworth, JC; Greenberg, CR; Seargeant, L; Robinson, BH Share Save Share Save 
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