Amish, Mennonite, and Hutterite Genetic Disorder Database

ανά Payne, Michael, Rupar, C Anthony, Siu, Geoffrey M, Siu, Victoria Mok
Έκδοση 2011

Use of complementary and alternative medicine in patients with inborn errors of metabolism: A single‐center study

ανά Tao, Jessica, Rupar, C. Anthony, Miller, Michael R., Ratko, Suzanne, Prasad, Chitra
Τόπος έκδοσης JIMD Rep (2019)

Lentivector Integration Sites in Ependymal Cells From a Model of Metachromatic Leukodystrophy: Non-B DNA as a New Factor Influencing Integration

ανά McAllister, Robert G, Liu, Jiahui, Woods, Matthew W, Tom, Sean K, Rupar, C Anthony, Barr, Stephen D
Τόπος έκδοσης Mol Ther Nucleic Acids (2014)

Transcriptional Profiling of Endocrine Cerebro-Osteodysplasia Using Microarray and Next-Generation Sequencing

ανά Lahiry, Piya, Lee, Leo J., Frey, Brendan J., Rupar, C. Anthony, Siu, Victoria M., Blencowe, Benjamin J., Hegele, Robert A.
Έκδοση 2011

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

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

A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder

ανά Lahiry, Piya, Racacho, Lemuel, Wang, Jian, Robinson, John F, Gloor, Gregory B, Rupar, C Anthony, Siu, Victoria M, Bulman, Dennis E, Hegele, Robert A
Έκδοση 2013

Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency

ανά Farhan, Sali M K, Wang, Jian, Robinson, John F, Lahiry, Piya, Siu, Victoria M, Prasad, Chitra, Kronick, Jonathan B, Ramsay, David A, Rupar, C Anthony, Hegele, Robert A
Έκδοση 2014

A Shared Founder Mutation Underlies Restrictive Dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite Patients in North America

ανά Loucks, Catrina, Parboosingh, Jillian S., Chong, Jessica X., Ober, Carole, Siu, Victoria M., Hegele, Robert A., Rupar, C. Anthony, McLeod, D. Ross, Pinto, Alfredo, Chudley, Albert E., Innes, A. Micheil
Τόπος έκδοσης Am J Med Genet A (2012)

A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems

ανά Lahiry, Piya, Wang, Jian, Robinson, John F., Turowec, Jacob P., Litchfield, David W., Lanktree, Matthew B., Gloor, Gregory B., Puffenberger, Erik G., Strauss, Kevin A., Martens, Mildred B., Ramsay, David A., Rupar, C. Anthony, Siu, Victoria, Hegele, Robert A.
Έκδοση 2009

A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems

ανά Lahiry, Piya, Wang, Jian, Robinson, John F., Turowec, Jacob P., Litchfield, David W., Lanktree, Matthew B., Gloor, Gregory B., Puffenberger, Erik G., Strauss, Kevin A., Martens, Mildred B., Ramsay, David A., Rupar, C. Anthony, Siu, Victoria, Hegele, Robert A.
Έκδοση 2009

Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy

ανά Farhan, Sali M K, Nixon, Kevin C J, Everest, Michelle, Edwards, Tara N, Long, Shirley, Segal, Dmitri, Knip, Maria J, Arts, Heleen H, Chakrabarti, Rana, Wang, Jian, Robinson, John F, Lee, Donald, Mirsattari, Seyed M, Rupar, C Anthony, Siu, Victoria M, Poulter, Michael O, Hegele, Robert A, Kramer, Jamie M
Τόπος έκδοσης Hum Mol Genet (2017)

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

ανά Oud, Machteld M., Bonnard, Carine, Mans, Dorus A., Altunoglu, Umut, Tohari, Sumanty, Ng, Alvin Yu Jin, Eskin, Ascia, Lee, Hane, Rupar, C. Anthony, de Wagenaar, Nathalie P., Wu, Ka Man, Lahiry, Piya, Pazour, Gregory J., Nelson, Stanley F., Hegele, Robert A., Roepman, Ronald, Kayserili, Hülya, Venkatesh, Byrappa, Siu, Victoria M., Reversade, Bruno, Arts, Heleen H.
Τόπος έκδοσης Cilia (2016)

Lentivector Iterations and Pre-Clinical Scale-Up/Toxicity Testing: Targeting Mobilized CD34(+) Cells for Correction of Fabry Disease

ανά Huang, Ju, Khan, Aneal, Au, Bryan C., Barber, Dwayne L., López-Vásquez, Lucía, Prokopishyn, Nicole L., Boutin, Michel, Rothe, Michael, Rip, Jack W., Abaoui, Mona, Nagree, Murtaza S., Dworski, Shaalee, Schambach, Axel, Keating, Armand, West, Michael L., Klassen, John, Turner, Patricia V., Sirrs, Sandra, Rupar, C. Anthony, Auray-Blais, Christiane, Foley, Ronan, Medin, Jeffrey A.
Τόπος έκδοσης Mol Ther Methods Clin Dev (2017)

Lentivirus-mediated gene therapy for Fabry disease

ανά Khan, Aneal, Barber, Dwayne L., Huang, Ju, Rupar, C. Anthony, Rip, Jack W., Auray-Blais, Christiane, Boutin, Michel, O’Hoski, Pamela, Gargulak, Kristy, McKillop, William M., Fraser, Graeme, Wasim, Syed, LeMoine, Kaye, Jelinski, Shelly, Chaudhry, Ahsan, Prokopishyn, Nicole, Morel, Chantal F., Couban, Stephen, Duggan, Peter R., Fowler, Daniel H., Keating, Armand, West, Michael L., Foley, Ronan, Medin, Jeffrey A.
Τόπος έκδοσης Nat Commun (2021)