Ex vivo imaging of motor axon dynamics in murine triangularis sterni explants

Tekijä Kerschensteiner, Martin, Reuter, Miriam S, Lichtman, Jeff W, Misgeld, Thomas
Julkaistu 2008

Axonal transport deficits and degeneration can evolve independently in mouse models of amyotrophic lateral sclerosis

Tekijä Marinković, Petar, Reuter, Miriam S., Brill, Monika S., Godinho, Leanne, Kerschensteiner, Martin, Misgeld, Thomas
Julkaistu 2012

Branch-Specific Microtubule Destabilization Mediates Axon Branch Loss during Neuromuscular Synapse Elimination

Tekijä Brill, Monika S., Kleele, Tatjana, Ruschkies, Laura, Wang, Mengzhe, Marahori, Natalia A., Reuter, Miriam S., Hausrat, Torben J., Weigand, Emily, Fisher, Matthew, Ahles, Andrea, Engelhardt, Stefan, Bishop, Derron L., Kneussel, Matthias, Misgeld, Thomas
Julkaisussa Neuron (2016)

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

Tekijä Breuss, Martin W., Sultan, Tipu, James, Kiely N., Rosti, Rasim O., Scott, Eric, Musaev, Damir, Furia, Bansri, Reis, André, Sticht, Heinrich, Al-Owain, Mohammed, Alkuraya, Fowzan S., Reuter, Miriam S., Abou Jamra, Rami, Trotta, Christopher R., Gleeson, Joseph G.
Julkaisussa Am J Hum Genet (2016)

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

Tekijä Breuss, Martin W., Sultan, Tipu, James, Kiely N., Rosti, Rasim O., Scott, Eric, Musaev, Damir, Furia, Bansri, Reis, André, Sticht, Heinrich, Al-Owain, Mohammed, Alkuraya, Fowzan S., Reuter, Miriam S., Abou Jamra, Rami, Trotta, Christopher R., Gleeson, Joseph G.
Julkaisussa Am J Hum Genet (2016)

Return of genetic and genomic research findings: experience of a pediatric biorepository

Tekijä Papaz, Tanya, Liston, Eriskay, Zahavich, Laura, Stavropoulos, Dimitri J., Jobling, Rebekah K., Kim, Raymond H., Reuter, Miriam, Miron, Anastasia, Oechslin, Erwin, Mondal, Tapas, Bergin, Lynn, Smythe, John F., Altamirano-Diaz, Luis, Lougheed, Jane, Yao, Roderick, Akinrinade, Oyediran, Breckpot, Jeroen, Mital, Seema
Julkaisussa BMC Med Genomics (2019)

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

Tekijä Trost, Brett, Walker, Susan, Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, MacDonald, Jeffrey R., Sung, Wilson W.L., Pereira, Sergio L., Whitney, Joe, Chan, Ada J.S., Pellecchia, Giovanna, Reuter, Miriam S., Lok, Si, Yuen, Ryan K.C., Marshall, Christian R., Merico, Daniele, Scherer, Stephen W.
Julkaisussa Am J Hum Genet (2018)

Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting

Tekijä Cohn, Iris, Manshaei, Roozbeh, Liston, Eriskay, Okello, John B. A., Khan, Reem, Curtis, Meredith R., Krupski, Abby J., Jobling, Rebekah K., Kalbfleisch, Kelsey, Paton, Tara A., Reuter, Miriam S., Hayeems, Robin Z., Verstegen, Ruud H. J., Goldman, Aaron, Kim, Raymond H., Ito, Shinya
Julkaisussa JAMA Netw Open (2021)

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

Tekijä Costain, Gregory, Jobling, Rebekah, Walker, Susan, Reuter, Miriam S., Snell, Meaghan, Bowdin, Sarah, Cohn, Ronald D., Dupuis, Lucie, Hewson, Stacy, Mercimek-Andrews, Saadet, Shuman, Cheryl, Sondheimer, Neal, Weksberg, Rosanna, Yoon, Grace, Meyn, M. Stephen, Stavropoulos, Dimitri J., Scherer, Stephen W., Mendoza-Londono, Roberto, Marshall, Christian R.
Julkaisussa Eur J Hum Genet (2018)

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot

Tekijä Reuter, Miriam S., Jobling, Rebekah, Chaturvedi, Rajiv R., Manshaei, Roozbeh, Costain, Gregory, Heung, Tracy, Curtis, Meredith, Hosseini, S. Mohsen, Liston, Eriskay, Lowther, Chelsea, Oechslin, Erwin, Sticht, Heinrich, Thiruvahindrapuram, Bhooma, Mil, Spencer van, Wald, Rachel M., Walker, Susan, Marshall, Christian R., Silversides, Candice K., Scherer, Stephen W., Kim, Raymond H., Bassett, Anne S.
Julkaisussa Genet Med (2018)

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

Tekijä 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.
Julkaisussa Genet Med (2020)

Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity

Tekijä Costain, Gregory, Walker, Susan, Marano, Maria, Veenma, Danielle, Snell, Meaghan, Curtis, Meredith, Luca, Stephanie, Buera, Jason, Arje, Danielle, Reuter, Miriam S., Thiruvahindrapuram, Bhooma, Trost, Brett, Sung, Wilson W. L., Yuen, Ryan K. C., Chitayat, David, Mendoza-Londono, Roberto, Stavropoulos, D. James, Scherer, Stephen W., Marshall, Christian R., Cohn, Ronald D., Cohen, Eyal, Orkin, Julia, Meyn, M. Stephen, Hayeems, Robin Z.
Julkaisussa JAMA Netw Open (2020)

Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences

Tekijä Manshaei, Roozbeh, Merico, Daniele, Reuter, Miriam S., Engchuan, Worrawat, Mojarad, Bahareh A., Chaturvedi, Rajiv, Heung, Tracy, Pellecchia, Giovanna, Zarrei, Mehdi, Nalpathamkalam, Thomas, Khan, Reem, Okello, John B. A., Liston, Eriskay, Curtis, Meredith, Yuen, Ryan K. C., Marshall, Christian R., Jobling, Rebekah K., Oechslin, Erwin, Wald, Rachel M., Silversides, Candice K., Scherer, Stephen W., Kim, Raymond H., Bassett, Anne S.
Julkaisussa Front Genet (2020)

A Distributed Whole Genome Sequencing Benchmark Study

Tekijä Corbett, Richard D., Eveleigh, Robert, Whitney, Joe, Barai, Namrata, Bourgey, Mathieu, Chuah, Eric, Johnson, Joanne, Moore, Richard A., Moradin, Neda, Mungall, Karen L., Pereira, Sergio, Reuter, Miriam S., Thiruvahindrapuram, Bhooma, Wintle, Richard F., Ragoussis, Jiannis, Strug, Lisa J., Herbrick, Jo-Anne, Aziz, Naveed, Jones, Steven J. M., Lathrop, Mark, Scherer, Stephen W., Staffa, Alfredo, Mungall, Andrew J.
Julkaisussa Front Genet (2020)

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation

Tekijä Hildebrandt, Matthew R., Reuter, Miriam S., Wei, Wei, Tayebi, Naeimeh, Liu, Jiajie, Sharmin, Sazia, Mulder, Jaap, Lesperance, L. Stephen, Brauer, Patrick M., Mok, Rebecca S.F., Kinnear, Caroline, Piekna, Alina, Romm, Asli, Howe, Jennifer, Pasceri, Peter, Meng, Guoliang, Rozycki, Matthew, Rodrigues, Deivid C., Martinez, Elisa C., Szego, Michael J., Zúñiga-Pflücker, Juan C., Anderson, Michele K., Prescott, Steven A., Rosenblum, Norman D., Kamath, Binita M., Mital, Seema, Scherer, Stephen W., Ellis, James
Julkaisussa Stem Cell Reports (2019)

Genome sequencing in families with congenital limb malformations

Tekijä Elsner, Jonas, Mensah, Martin A., Holtgrewe, Manuel, Hertzberg, Jakob, Bigoni, Stefania, Busche, Andreas, Coutelier, Marie, de Silva, Deepthi C., Elçioglu, Nursel, Filges, Isabel, Gerkes, Erica, Girisha, Katta M., Graul-Neumann, Luitgard, Jamsheer, Aleksander, Krawitz, Peter, Kurth, Ingo, Markus, Susanne, Megarbane, Andre, Reis, André, Reuter, Miriam S., Svoboda, Daniel, Teller, Christopher, Tuysuz, Beyhan, Türkmen, Seval, Wilson, Meredith, Woitschach, Rixa, Vater, Inga, Caliebe, Almuth, Hülsemann, Wiebke, Horn, Denise, Mundlos, Stefan, Spielmann, Malte
Julkaisussa Hum Genet (2021)

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Tekijä Schaffer, Ashleigh E., Eggens, Veerle R.C., Caglayan, Ahmet Okay, Reuter, Miriam S., Scott, Eric, Coufal, Nicole G., Silhavy, Jennifer L., Xue, Yuanchao, Kayserili, Hulya, Yasuno, Katsuhito, Rosti, Rasim Ozgur, Abdellateef, Mostafa, Caglar, Caner, Kasher, Paul R., Cazemier, J. Leonie, Weterman, Marian A., Cantagrel, Vincent, Cai, Na, Zweier, Christiane, Altunoglu, Umut, Satkin, N. Bilge, Aktar, Fesih, Tuysuz, Beyhan, Yalcinkaya, Cengiz, Caksen, Huseyin, Bilguvar, Kaya, Fu, Xiang-Dong, Trotta, Christopher, Gabriel, Stacey, Reis, André, Gunel, Murat, Baas, Frank, Gleeson, Joseph G.
Julkaistu 2014

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

Tekijä Hüffmeier, Ulrike, Kraus, Cornelia, Reuter, Miriam S., Uebe, Steffen, Abbott, Mary-Alice, Ahmed, Syed A., Rawson, Kristyn L., Barr, Eileen, Li, Hong, Bruel, Ange-Line, Faivre, Laurence, Tran Mau-Them, Frédéric, Botti, Christina, Brooks, Susan, Burns, Kaitlyn, Ward, D. Isum, Dutra-Clarke, Marina, Martinez-Agosto, Julian A., Lee, Hane, Nelson, Stanley F., Zacher, Pia, Abou Jamra, Rami, Klöckner, Chiara, McGaughran, Julie, Kohlhase, Jürgen, Schuhmann, Sarah, Moran, Ellen, Pappas, John, Raas-Rothschild, Annick, Sacoto, Maria J. Guillen, Henderson, Lindsay B., Palculict, Timothy Blake, Mullegama, Sureni V., Zghal Elloumi, Houda, Reich, Adi, Schrier Vergano, Samantha A., Wahl, Erica, Reis, André, Zweier, Christiane
Julkaisussa Orphanet J Rare Dis (2021)

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants

Tekijä Reuter, Miriam S., Walker, Susan, Thiruvahindrapuram, Bhooma, Whitney, Joe, Cohn, Iris, Sondheimer, Neal, Yuen, Ryan K.C., Trost, Brett, Paton, Tara A., Pereira, Sergio L., Herbrick, Jo-Anne, Wintle, Richard F., Merico, Daniele, Howe, Jennifer, MacDonald, Jeffrey R., Lu, Chao, Nalpathamkalam, Thomas, Sung, Wilson W.L., Wang, Zhuozhi, Patel, Rohan V., Pellecchia, Giovanna, Wei, John, Strug, Lisa J., Bell, Sherilyn, Kellam, Barbara, Mahtani, Melanie M., Bassett, Anne S., Bombard, Yvonne, Weksberg, Rosanna, Shuman, Cheryl, Cohn, Ronald D., Stavropoulos, Dimitri J., Bowdin, Sarah, Hildebrandt, Matthew R., Wei, Wei, Romm, Asli, Pasceri, Peter, Ellis, James, Ray, Peter, Meyn, M. Stephen, Monfared, Nasim, Hosseini, S. Mohsen, Joseph-George, Ann M., Keeley, Fred W., Cook, Ryan A., Fiume, Marc, Lee, Hin C., Marshall, Christian R., Davies, Jill, Hazell, Allison, Buchanan, Janet A., Szego, Michael J., Scherer, Stephen W.
Julkaisussa CMAJ (2018)

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

Tekijä 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
Julkaisussa Genet Med (2018)