Genetics and ARMD

Por MacDonald, Ian M., Lines, Matthew A.
Publicado em 2004

Danon Disease Due to a Novel LAMP2 Microduplication

Por Lines, Matthew A., Hewson, Stacy, Halliday, William, Sabatini, Peter J. B., Stockley, Tracy, Dipchand, Anne I., Bowdin, Sarah, Siriwardena, Komudi
Publicado em 2013

Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation

Por Lines, Matthew A., Rupar, C. Anthony, Rip, Jack W., Baskin, Berivan, Ray, Peter N., Hegele, Robert A., Grynspan, David, Michaud, Jean, Geraghty, Michael T.
Publicado em 2013

Congenital sucrase–isomaltase deficiency: identification of a common Inuit founder mutation

Por Marcadier, Julien L., Boland, Margaret, Scott, C. Ronald, Issa, Kheirie, Wu, Zaining, McIntyre, Adam D., Hegele, Robert A., Geraghty, Michael T., Lines, Matthew A.
Publicado no CMAJ (2015)

Peroxisomal D-bifunctional protein deficiency: Three adults diagnosed by whole-exome sequencing

Por Lines, Matthew A., Jobling, Rebekah, Brady, Lauren, Marshall, Christian R., Scherer, Stephen W., Rodriguez, Amadeo R., Lee, Liesly, Lang, Anthony E., Mestre, Tiago A., Wanders, Ronald J.A., Ferdinandusse, Sacha, Tarnopolsky, Mark A.
Publicado em 2014

Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency

Por Smith, Amanda, McBride, Skye, Marcadier, Julien L., Michaud, Jean, Al-Dirbashi, Osama Y., Schwartzentruber, Jeremy, Beaulieu, Chandree L., Katz, Sherri L., Majewski, Jacek, Bulman, Dennis E., Geraghty, Michael T., Harper, Mary-Ellen, Chakraborty, Pranesh, Lines, Matthew A.
Publicado no JIMD Rep (2016)

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

Por Vanstone, Jason R, Smith, Amanda M, McBride, Skye, Naas, Turaya, Holcik, Martin, Antoun, Ghadi, Harper, Mary-Ellen, Michaud, Jean, Sell, Erick, Chakraborty, Pranesh, Tetreault, Martine, Majewski, Jacek, Baird, Stephen, Boycott, Kym M, Dyment, David A, MacKenzie, Alex, Lines, Matthew A
Publicado no Eur J Hum Genet (2016)

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

Por Daoud, Hussein, Luco, Stephanie M., Li, Rui, Bareke, Eric, Beaulieu, Chandree, Jarinova, Olga, Carson, Nancy, Nikkel, Sarah M., Graham, Gail E., Richer, Julie, Armour, Christine, Bulman, Dennis E., Chakraborty, Pranesh, Geraghty, Michael, Lines, Matthew A., Lacaze-Masmonteil, Thierry, Majewski, Jacek, Boycott, Kym M., Dyment, David A.
Publicado no CMAJ (2016)

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Por Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy, Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Geneviève, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jürgen, Grix, Arthur W., Lohmann, Dietmar R., Hehr, Ute, Böhm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar, Boycott, Kym M.
Publicado em 2012

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

Por Hood, Rebecca L., Lines, Matthew A., Nikkel, Sarah M., Schwartzentruber, Jeremy, Beaulieu, Chandree, Nowaczyk, Małgorzata J.M., Allanson, Judith, Kim, Chong Ae, Wieczorek, Dagmar, Moilanen, Jukka S., Lacombe, Didier, Gillessen-Kaesbach, Gabriele, Whiteford, Margo L., Quaio, Caio Robledo D.C., Gomy, Israel, Bertola, Debora R., Albrecht, Beate, Platzer, Konrad, McGillivray, George, Zou, Ruobing, McLeod, D. Ross, Chudley, Albert E., Chodirker, Bernard N., Marcadier, Janet, Majewski, Jacek, Bulman, Dennis E., White, Susan M., Boycott, Kym M.
Publicado em 2012