A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome

por Fenwick, Aimee L, Bowdin, Sarah C, Klatt, Regan EM, Wilkie, Andrew OM
Publicado 2011

Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis

por Rayment, Jonathan H., Jobling, Rebekah, Bowdin, Sarah, Cutz, Ernest, Dell, Sharon D.
Publicado 2019

Loeys–Dietz syndrome: a primer for diagnosis and management

por MacCarrick, Gretchen, Black, James H., Bowdin, Sarah, El-Hamamsy, Ismail, Frischmeyer-Guerrerio, Pamela A., Guerrerio, Anthony L., Sponseller, Paul D., Loeys, Bart, Dietz, Harry C.
Publicado 2014

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

por French, Courtney E., Delon, Isabelle, Dolling, Helen, Sanchis-Juan, Alba, Shamardina, Olga, Mégy, Karyn, Abbs, Stephen, Austin, Topun, Bowdin, Sarah, Branco, Ricardo G., Firth, Helen, Rowitch, David H., Raymond, F. Lucy
Publicado 2019

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

por 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
Publicado 2017

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

por Atik, Tahir, Koparir, Asuman, Bademci, Guney, Foster, Joseph, Altunoglu, Umut, Mutlu, Gül Yesiltepe, Bowdin, Sarah, Elcioglu, Nursel, Tayfun, Gulsen A., Atik, Sevinc Sahin, Ozen, Mustafa, Ozkinay, Ferda, Alanay, Yasemin, Kayserili, Hulya, Thiel, Steffen, Tekin, Mustafa
Publicado 2015

Exome Sequencing Identifies Rare Variants in Multiple Genes in Atrioventricular Septal Defect

por D’Alessandro, Lisa C.A., Al Turki, Saeed, Manickaraj, Ashok Kumar, Manase, Dorin, Mulder, Barbara J.M., Bergin, Lynn, Rosenberg, Herschel C., Mondal, Tapas, Gordon, Elaine, Lougheed, Jane, Smythe, John, Devriendt, Koen, Bhattacharya, Shoumo, Watkins, Hugh, Bentham, Jamie, Bowdin, Sarah, Hurles, Matthew E., Mital, Seema
Publicado 2015

Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

por Hosseini, S. Mohsen, Kim, Raymond, Udupa, Sharmila, Costain, Gregory, Jobling, Rebekah, Liston, Eriskay, Jamal, Seema M., Szybowska, Marta, Morel, Chantal F., Bowdin, Sarah, Garcia, John, Care, Melanie, Sturm, Amy C., Novelli, Valeria, Ackerman, Michael J., Ware, James S., Hershberger, Ray E., Wilde, Arthur A.M., Gollob, Michael H.
Publicado 2018

The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease

por Reuter, Miriam S., Chaturvedi, Rajiv R., Liston, Eriskay, Manshaei, Roozbeh, Aul, Ritu B., Bowdin, Sarah, Cohn, Iris, Curtis, Meredith, Dhir, Priya, Hayeems, Robin Z., Hosseini, S. Mohsen, Khan, Reem, Ly, Linh G., Marshall, Christian R., Mertens, Luc, Okello, John B. A., Pereira, Sergio L., Raajkumar, Akshaya, Seed, Mike, Thiruvahindrapuram, Bhooma, Scherer, Stephen W., Kim, Raymond H., Jobling, Rebekah K.
Publicado 2020

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

por 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
Publicado 2018

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

por 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
Publicado 2016