A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure☆

by Pfeffer, Gerald, Sambuughin, Nyamkhishig, Olivé, Montse, Tyndel, Felix, Toro, Camilo, Goldfarb, Lev G., Chinnery, Patrick F.
Published 2014

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

by Toro, Camilo, Olivé, Montse, Dalakas, Marinos C, Sivakumar, Kumaraswami, Bilbao, Juan M, Tyndel, Felix, Vidal, Noemí, Farrero, Eva, Sambuughin, Nyamkhishig, Goldfarb, Lev G
Published 2013

ATP1A3 Mutation in Adult Rapid-Onset Ataxia

by Sweadner, Kathleen J., Toro, Camilo, Whitlow, Christopher T., Snively, Beverly M., Cook, Jared F., Ozelius, Laurie J., Markello, Thomas C., Brashear, Allison
Published 2016

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

by Renvoisé, Benoît, Chang, Jaerak, Singh, Rajat, Yonekawa, Sayuri, FitzGibbon, Edmond J, Mankodi, Ami, Vanderver, Adeline, Schindler, Alice B, Toro, Camilo, Gahl, William A, Mahuran, Don J, Blackstone, Craig, Pierson, Tyler Mark
Published 2014

The implications of familial incidental findings from exome sequencing: The NIH Undiagnosed Diseases Program experience

by Lawrence, Lauren, Sincan, Murat, Markello, Thomas, Adams, David R, Gill, Fred, Godfrey, Rena, Golas, Gretchen, Groden, Catherine, Landis, Dennis, Nehrebecky, Michele, Park, Grace, Soldatos, Ariane, Tifft, Cynthia, Toro, Camilo, Wahl, Colleen, Wolfe, Lynne, Gahl, William A., Boerkoel, Cornelius F.
Published 2014

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

by Pierson, Tyler Mark, Adams, David, Bonn, Florian, Martinelli, Paola, Cherukuri, Praveen F., Teer, Jamie K., Hansen, Nancy F., Cruz, Pedro, Mullikin for the NISC Comparative Sequencing Program, James C., Blakesley, Robert W., Golas, Gretchen, Kwan, Justin, Sandler, Anthony, Fuentes Fajardo, Karin, Markello, Thomas, Tifft, Cynthia, Blackstone, Craig, Rugarli, Elena I., Langer, Thomas, Gahl, William A., Toro, Camilo
Published 2011

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine

by Pierson, Tyler Mark, Yuan, Hongjie, Marsh, Eric D, Fuentes-Fajardo, Karin, Adams, David R, Markello, Thomas, Golas, Gretchen, Simeonov, Dimitre R, Holloman, Conisha, Tankovic, Anel, Karamchandani, Manish M, Schreiber, John M, Mullikin, James C, Tifft, Cynthia J, Toro, Camilo, Boerkoel, Cornelius F, Traynelis, Stephen F, Gahl, William A
Published 2014

Correction: Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

by Pierson, Tyler Mark, Adams, David, Bonn, Florian, Martinelli, Paola, Cherukuri, Praveen F., Teer, Jamie K., Hansen, Nancy F., Cruz, Pedro, Mullikin, James C., Blakesley, Robert W., Golas, Gretchen, Kwan, Justin, Sandler, Anthony, Fuentes Fajardo, Karin, Markello, Thomas, Tifft, Cynthia, Blackstone, Craig, Rugarli, Elena I., Langer, Thomas, Gahl, William A., Toro, Camilo
Published 2013

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

by Maduro, Valerie, Pusey, Barbara N., Cherukuri, Praveen F., Atkins, Paul, du Souich, Christèle, Rupps, Rosemarie, Limbos, Marjolaine, Adams, David R., Bhatt, Samarth S., Eydoux, Patrice, Links, Amanda E., Lehman, Anna, Malicdan, May C., Mason, Christopher E., Morimoto, Marie, Mullikin, James C., Sear, Andrew, Van Karnebeek, Clara, Stankiewicz, Pawel, Gahl, William A., Toro, Camilo, Boerkoel, Cornelius F.
Published 2016

Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2

by Sambuughin, Nyamkhishig, Goldfarb, Lev G., Sivtseva, Tatiana M., Davydova, Tatiana K., Vladimirtsev, Vsevolod A., Osakovskiy, Vladimir L., Danilova, Al’bina P., Nikitina, Raisa S., Ylakhova, Anastasia N., Diachkovskaya, Margarita P., Sundborger, Anna C., Renwick, Neil M., Platonov, Fyodor A., Hinshaw, Jenny E., Toro, Camilo
Published 2015

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

by Bone, William P., Washington, Nicole L., Buske, Orion J., Adams, David R., Davis, Joie, Draper, David, Flynn, Elise D., Girdea, Marta, Godfrey, Rena, Golas, Gretchen, Groden, Catherine, Jacobsen, Julius, Köhler, Sebastian, Lee, Elizabeth M. J., Links, Amanda E., Markello, Thomas C., Mungall, Christopher J., Nehrebecky, Michele, Robinson, Peter N., Sincan, Murat, Soldatos, Ariane G., Tifft, Cynthia J., Toro, Camilo, Trang, Heather, Valkanas, Elise, Vasilevsky, Nicole, Wahl, Colleen, Wolfe, Lynne A., Boerkoel, Cornelius F., Brudno, Michael, Haendel, Melissa A., Gahl, William A., Smedley, Damian
Published 2016

Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

by Giorgio, Elisa, Rolyan, Harshvardhan, Kropp, Laura, Chakka, Anish Baswanth, Yatsenko, Svetlana, Gregorio, Eleonora Di, Lacerenza, Daniela, Vaula, Giovanna, Talarico, Flavia, Mandich, Paola, Toro, Camilo, Pierre, Eleonore Eymard, Labauge, Pierre, Capellari, Sabina, Cortelli, Pietro, Vairo, Filippo Pinto, Miguel, Diego, Stubbolo, Danielle, Marques, Lourenco Charles, Gahl, William, Boespflug-Tanguy, Odile, Melberg, Atle, Hassin-Baer, Sharon, Cohen, Oren S, Pjontek, Rastislav, Grau, Armin, Klopstock, Thomas, Fogel, Brent, Meijer, Inge, Rouleau, Guy, Bouchard, Jean-Pierre L, Ganapathiraju, Madhavi, Vanderver, Adeline, Dahl, Niklas, Hobson, Grace, Brusco, Alfredo, Brussino, Alessandro, Padiath, Quasar Saleem
Published 2013