Next-generation sequencing still needs our generation's clinicians

Por Foley, A. Reghan, Donkervoort, Sandra, Bönnemann, Carsten G.
Publicado no Neurol Genet (2015)

Spontaneous keloid formation in patients with Bethlem myopathy

Por Collins, James, Foley, A. Reghan, Straub, Volker, Bönnemann, Carsten G.
Publicado em 2012

Whole-genome sequencing and the clinician: a tale of two cities

Por Foley, A Reghan, Pitceathly, Robert D S, He, Jie, Kim, Jihee, Pearson, Nathaniel M, Muntoni, Francesco, Hanna, Michael G
Publicado em 2014

Autosomal Recessive Inheritance of Classic Bethlem Myopathy

Por Foley, A. Reghan, Hu, Ying, Zou, Yaqun, Columbus, Alexandra, Shoffner, John, Dunn, Diane M., Weiss, Robert B., Bönnemann, Carsten G.
Publicado em 2009

A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes Syndrome

Por Emmanuele, Valentina, Sotiriou, Evangelia, Gutierrez Rios, Purificación, Ganesh, Jaya, Ichord, Rebecca, Foley, A. Reghan, Akman, H. Orhan, DiMauro, Salvatore
Publicado em 2012

Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies

Por Butterfield, Russell J., Foley, A. Reghan, Dastgir, Jahannaz, Asman, Stephanie, Dunn, Diane M., Zou, Yaqun, Hu, Ying, Flanigan, Kevin M., Swoboda, Kathryn J., Winder, Thomas L., Weiss, Robert B., Bönnemann, Carsten G.
Publicado no Hum Mutat (2013)

Large Genomic Deletions: a Novel Cause of Ullrich Congenital Muscular Dystrophy

Por Foley, A. Reghan, Hu, Ying, Zou, Yaqun, Yang, Michele, Medne, Līvija, Leach, Meganne, Conlin, Laura K., Spinner, Nancy, Shaikh, Tamim H., Falk, Marni, Neumeyer, Ann M., Bliss, Laurie, Tseng, Brian S., Winder, Thomas L., Bönnemann, Carsten G.
Publicado no Ann Neurol (2011)

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

Por Johnson, Janel O., Gibbs, J. Raphael, Megarbane, Andre, Urtizberea, J. Andoni, Hernandez, Dena G., Foley, A. Reghan, Arepalli, Sampath, Pandraud, Amelie, Simón-Sánchez, Javier, Clayton, Peter, Reilly, Mary M., Muntoni, Francesco, Abramzon, Yevgeniya, Houlden, Henry, Singleton, Andrew B.
Publicado em 2012

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

Por Pitceathly, Robert D.S., Rahman, Shamima, Wedatilake, Yehani, Polke, James M., Cirak, Sebahattin, Foley, A. Reghan, Sailer, Anna, Hurles, Matthew E., Stalker, Jim, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Muntoni, Francesco, Houlden, Henry, Taanman, Jan-Willem, Hanna, Michael G.
Publicado em 2013

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

Por Pitceathly, Robert D.S., Rahman, Shamima, Wedatilake, Yehani, Polke, James M., Cirak, Sebahattin, Foley, A. Reghan, Sailer, Anna, Hurles, Matthew E., Stalker, Jim, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Muntoni, Francesco, Houlden, Henry, Taanman, Jan-Willem, Hanna, Michael G.
Publicado em 2013

Natural history of pulmonary function in collagen VI-related myopathies

Por Foley, A. Reghan, Quijano-Roy, Susana, Collins, James, Straub, Volker, McCallum, Michelle, Deconinck, Nicolas, Mercuri, Eugenio, Pane, Marika, D’Amico, Adele, Bertini, Enrico, North, Kathryn, Ryan, Monique M., Richard, Pascale, Allamand, Valérie, Hicks, Debbie, Lamandé, Shireen, Hu, Ying, Gualandi, Francesca, Auh, Sungyoung, Muntoni, Francesco, Bönnemann, Carsten G.
Publicado em 2013

Mosaicism for dominant collagen VI mutations as a cause for intra-familial phenotypic variability

Por Donkervoort, Sandra, Hu, Ying, Stojkovic, Tanya, Voermans, Nicol, Foley, A. Reghan, Leach, Meganne E, Dastgir, Jahannaz, Bolduc, Veronique, Cullup, Thomas, de Becdelièvre, Alix, Yang, Lin, Su, Hai, Meilleur, Katherine, Schindler, Alice B., Kamsteeg, Erik-Jan, Richard, Pascale, Butterfield, Russell, Winder, Thomas L., Crawford, Thomas, Weiss, Robert B., Muntoni, Francesco, Allamand, Valérie, Bönnemann, Carsten G.
Publicado no Hum Mutat (2015)

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

Por Chauveau, Claire, Bonnemann, Carsten G., Julien, Cedric, Kho, Ay Lin, Marks, Harold, Talim, Beril, Maury, Philippe, Arne-Bes, Marie Christine, Uro-Coste, Emmanuelle, Alexandrovich, Alexander, Vihola, Anna, Schafer, Sebastian, Kaufmann, Beth, Medne, Livija, Hübner, Norbert, Foley, A. Reghan, Santi, Mariarita, Udd, Bjarne, Topaloglu, Haluk, Moore, Steven A., Gotthardt, Michael, Samuels, Mark E., Gautel, Mathias, Ferreiro, Ana
Publicado em 2014

Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

Por Stevens, Elizabeth, Carss, Keren J., Cirak, Sebahattin, Foley, A. Reghan, Torelli, Silvia, Willer, Tobias, Tambunan, Dimira E., Yau, Shu, Brodd, Lina, Sewry, Caroline A., Feng, Lucy, Haliloglu, Goknur, Orhan, Diclehan, Dobyns, William B., Enns, Gregory M., Manning, Melanie, Krause, Amanda, Salih, Mustafa A., Walsh, Christopher A., Hurles, Matthew, Campbell, Kevin P., Manzini, M. Chiara, Stemple, Derek, Lin, Yung-Yao, Muntoni, Francesco
Publicado em 2013

Observational study of spinal muscular atrophy type I and implications for clinical trials

Por Finkel, Richard S., McDermott, Michael P., Kaufmann, Petra, Darras, Basil T., Chung, Wendy K., Sproule, Douglas M., Kang, Peter B., Foley, A. Reghan, Yang, Michelle L., Martens, William B., Oskoui, Maryam, Glanzman, Allan M., Flickinger, Jean, Montes, Jacqueline, Dunaway, Sally, O'Hagen, Jessica, Quigley, Janet, Riley, Susan, Benton, Maryjane, Ryan, Patricia A., Montgomery, Megan, Marra, Jonathan, Gooch, Clifton, De Vivo, Darryl C.
Publicado em 2014

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

Por Oates, Emily C., Rossor, Alexander M., Hafezparast, Majid, Gonzalez, Michael, Speziani, Fiorella, MacArthur, Daniel G., Lek, Monkol, Cottenie, Ellen, Scoto, Mariacristina, Foley, A. Reghan, Hurles, Matthew, Houlden, Henry, Greensmith, Linda, Auer-Grumbach, Michaela, Pieber, Thomas R., Strom, Tim M., Schule, Rebecca, Herrmann, David N., Sowden, Janet E., Acsadi, Gyula, Menezes, Manoj P., Clarke, Nigel F., Züchner, Stephan, Muntoni, Francesco, North, Kathryn N., Reilly, Mary M.
Publicado em 2013

Observational Study of Spinal Muscular Atrophy Type 2 and 3: Functional Outcomes Over 1 Year

Por Kaufmann, Petra, McDermott, Michael P., Darras, Basil T., Finkel, Richard, Kang, Peter, Oskoui, Maryam, Constantinescu, Andrei, Sproule, Douglas Michael, Foley, A. Reghan, Yang, Michele, Tawil, Rabi, Chung, Wendy, Martens, Bill, Montes, Jacqueline, O'Hagen, Jessica, Dunaway, Sally, Flickinger, Jean M., Quigley, Janet, Riley, Susan, Glanzman, Allan M., Benton, Maryjane, Ryan, Patricia A., Irvine, Carrie, Annis, Christine L., Butler, Hailly, Caracciolo, Jayson, Montgomery, Megan, Marra, Jonathan, Koo, Benjamin, De Vivo, Darryl C.
Publicado em 2011

Prospective cohort study of spinal muscular atrophy types 2 and 3

Por Kaufmann, Petra, McDermott, Michael P., Darras, Basil T., Finkel, Richard S., Sproule, Douglas M., Kang, Peter B., Oskoui, Maryam, Constantinescu, Andrei, Gooch, Clifton L., Foley, A. Reghan, Yang, Michele L., Tawil, Rabi, Chung, Wendy K., Martens, William B., Montes, Jacqueline, Battista, Vanessa, O'Hagen, Jessica, Dunaway, Sally, Flickinger, Jean, Quigley, Janet, Riley, Susan, Glanzman, Allan M., Benton, Maryjane, Ryan, Patricia A., Punyanitya, Mark, Montgomery, Megan J., Marra, Jonathan, Koo, Benjamin, De Vivo, Darryl C.
Publicado em 2012

Results of a Two-Year Pilot Study of Clinical Outcome Measures in Collagen VI-related Myopathy and LAMA2-related Muscular Dystrophy

Por Meilleur, Katherine G., Jain, Minal S., Hynan, Linda S., Shieh, Ching-Yi, Kim, Eunice, Waite, Melissa, McGuire, Michelle, Fiorini, Courtney, Glanzman, Allan M., Main, Marion, Rose, Kristy, Duong, Tina, Bendixen, Roxanna, Linton, Melody M., Arveson, Irene C., Nichols, Carmel, Yang, Kelly, Fischbeck, Kenneth H., Wagner, Kathryn R., North, Kathryn, Mankodi, Ami, Grunseich, Christopher, Hartnett, Elizabeth J., Smith, Michaele, Donkervoort, Sandra, Schindler, Alice, Kokkinis, Angela, Leach, Meganne, Foley, A. Reghan, Collins, James, Muntoni, Francesco, Rutkowski, Anne, Bönnemann, Carsten G
Publicado no Neuromuscul Disord (2014)

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

Por Carss, Keren J., Stevens, Elizabeth, Foley, A. Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A., Messina, Sonia, Bertini, Enrico, Bönnemann, Carsten G., Abdenur, Jose E., Grosmann, Carla M., Kesari, Akanchha, Punetha, Jaya, Quinlivan, Ros, Waddell, Leigh B., Young, Helen K., Wraige, Elizabeth, Yau, Shu, Brodd, Lina, Feng, Lucy, Sewry, Caroline, MacArthur, Daniel G., North, Kathryn N., Hoffman, Eric, Stemple, Derek L., Hurles, Matthew E., van Bokhoven, Hans, Campbell, Kevin P., Lefeber, Dirk J., Lin, Yung-Yao, Muntoni, Francesco
Publicado em 2013