Efficient Genome-Wide Detection and Cataloging of EMS-Induced Mutations Using Exome Capture and Next-Generation Sequencing von Henry, Isabelle M., Nagalakshmi, Ugrappa, Lieberman, Meric C., Ngo, Kathie J., Krasileva, Ksenia V., Vasquez-Gross, Hans, Akhunova, Alina, Akhunov, Eduard, Dubcovsky, Jorge, Tai, Thomas H., Comai, Luca

Volltext

Discovery of Rare Mutations in Populations: TILLING by Sequencing von Tsai, Helen, Howell, Tyson, Nitcher, Rebecca, Missirian, Victor, Watson, Brian, Ngo, Kathie J., Lieberman, Meric, Fass, Joseph, Uauy, Cristobal, Tran, Robert K., Khan, Asif Ali, Filkov, Vladimir, Tai, Thomas H., Dubcovsky, Jorge, Comai, Luca

Volltext

A TILLING by sequencing approach to identify induced mutations in sunflower genes von Fanelli, Valentina, Ngo, Kathie J., Thompson, Veronica L., Silva, Brennan R., Tsai, Helen, Sabetta, Wilma, Montemurro, Cinzia, Comai, Luca, Harmer, Stacey L.

Volltext

Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report von Duggirala, Niharika, Ngo, Kathie J, Pagnoni, Sabrina M, Rosa, Alberto L, Fogel, Brent L

Volltext

Lysosomal genes contribute to Parkinson’s disease near agriculture with high intensity pesticide use von Ngo, Kathie J., Paul, Kimberly C., Wong, Darice, Kusters, Cynthia D. J., Bronstein, Jeff M., Ritz, Beate, Fogel, Brent L.

Volltext

Production of a High-Efficiency TILLING Population through Polyploidization von Tsai, Helen, Missirian, Victor, Ngo, Kathie J., Tran, Robert K., Chan, Simon R., Sundaresan, Venkatesan, Comai, Luca

Volltext

Alterations in oligodendrocyte transcriptional networks reveal region-specific vulnerabilities to neurological disease von Tommasini, Dario, Fox, Rachel, Ngo, Kathie J., Hinman, Jason D., Fogel, Brent L.

Volltext

De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy von Hadjinicolaou, Aristides, Ngo, Kathie J, Conway, Daniel Y, Provias, John P, Baker, Steven K, Brady, Lauren I, Bennett, Craig L, La Spada, Albert R, Fogel, Brent L, Yoon, Grace

Volltext

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14 von Rafehi, Haloom, Read, Justin, Szmulewicz, David J, Davies, Kayli C, Snell, Penny, Fearnley, Liam G, Scott, Liam, Thomsen, Mirja, Gillies, Greta, Pope, Kate, Bennett, Mark F, Munro, Jacob E, Ngo, Kathie J, Chen, Luke, Wallis, Mathew J, Butler, Ernest G, Kumar, Kishore R, Wu, Kathy Hc, Tomlinson, Susan E, Tisch, Stephen, Malhotra, Abhishek, Lee-Archer, Matthew, Dolzhenko, Egor, Eberle, Michael A, Roberts, Leslie J, Fogel, Brent L, Brüggemann, Norbert, Lohmann, Katja, Delatycki, Martin B, Bahlo, Melanie, Lockhart, Paul J

Volltext

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 von Rafehi, Haloom, Read, Justin, Szmulewicz, David J., Davies, Kayli C., Snell, Penny, Fearnley, Liam G., Scott, Liam, Thomsen, Mirja, Gillies, Greta, Pope, Kate, Bennett, Mark F., Munro, Jacob E., Ngo, Kathie J., Chen, Luke, Wallis, Mathew J., Butler, Ernest G., Kumar, Kishore R., Wu, Kathy HC, Tomlinson, Susan E., Tisch, Stephen, Malhotra, Abhishek, Lee-Archer, Matthew, Dolzhenko, Egor, Eberle, Michael A., Roberts, Leslie J., Fogel, Brent L., Brüggemann, Norbert, Lohmann, Katja, Delatycki, Martin B., Bahlo, Melanie, Lockhart, Paul J.

Volltext

Evidence for Carbon Saturation in a Highly Structured and Organic-Matter-Rich Soil von Chung, Haegeun, Ngo, Kathie J, Plante, Alain, Six, Johan

Volltext

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders von Ngo, Kathie J., Rexach, Jessica E., Lee, Hane, Petty, Lauren E., Perlman, Susan, Valera, Juliana M., Deignan, Joshua L., Mao, Yuanming, Aker, Mamdouh, Posey, Jennifer E., Jhangiani, Shalini N., Coban‐Akdemir, Zeynep H., Boerwinkle, Eric, Muzny, Donna, Nelson, Alexandra B., Hassin‐Baer, Sharon, Poke, Gemma, Neas, Katherine, Geschwind, Michael D., Grody, Wayne W., Gibbs, Richard, Geschwind, Daniel H., Lupski, James R., Below, Jennifer E., Nelson, Stanley F., Fogel, Brent L.

Volltext

miR-142-3p regulates cortical oligodendrocyte gene co-expression networks associated with tauopathy von Hinman, Jason D, Ngo, Kathie J, Kim, Deborah, Chen, Cidi, Abraham, Carmela R, Ghanbari, Mohsen, Ikram, M Arfan, Kushner, Steven A, Kawaguchi, Riki, Coppola, Giovanni, Goth, Kerstin, Bellusci, Saverio, Hernandez, Israel, Kosik, Kenneth S, Fogel, Brent L

Volltext

Spinocerebellar Ataxia type 29 in a family of Māori descent von Ngo, Kathie J, Poke, Gemma, Neas, Katherine, Fogel, Brent L

Volltext

Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing von Watson, Sonya, Ngo, Kathie J, Stevens, Hannah A, Wong, Darice Y, Kim, Jihye, Song, Yongjun, Han, Beomman, Hyun, Seong-In, Khang, Rin, Ryu, Seung Woo, Lee, Eugene, Seo, Gohun, Lee, Hane, Lajonchere, Clara, Fogel, Brent L

Volltext

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders von Ngo, Kathie J., Rexach, Jessica E., Lee, Hane, Petty, Lauren E., Perlman, Susan, Valera, Juliana M., Deignan, Joshua L., Mao, Yuanming, Aker, Mamdouh, Posey, Jennifer E., Jhangiani, Shalini N., Coban‐Akdemir, Zeynep H., Boerwinkle, Eric, Muzny, Donna, Nelson, Alexandra B., Hassin‐Baer, Sharon, Poke, Gemma, Neas, Katherine, Geschwind, Michael D., Grody, Wayne W., Gibbs, Richard, Geschwind, Daniel H., Lupski, James R., Below, Jennifer E., Nelson, Stanley F., Fogel, Brent L.

Volltext

Lack of Association between GBA Mutations and Motor Complications in European and American Parkinson's Disease Cohorts von Maple-Grødem, Jodi, Paul, Kimberly C., Dalen, Ingvild, Ngo, Kathie J., Wong, Darice, Macleod, Angus D., Counsell, Carl E., Bäckström, David C, Forsgren, Lars, Tysnes, Ole-Bjørn, Kusters, Cynthia D.J., Fogel, Brent L., Bronstein, Jeff M., Ritz, Beate, Alves, Guido

Volltext

Effectiveness of Sodium Azide Alone Compared to Sodium Azide in Combination with Methyl Nitrosurea for Rice Mutagenesis von Thomas H. Tai, 천아름, Isabelle M. Henry, Kathie J. Ngo, Diana Burkart-Waco

Volltext

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 von Rafehi, Haloom, Read, Justin, Szmulewicz, David J., Davies, Kayli C., Snell, Penny, Fearnley, Liam G., Scott, Liam, Thomsen, Mirja, Gillies, Greta, Pope, Kate, Bennett, Mark F., Munro, Jacob E., Ngo, Kathie J., Chen, Luke, Wallis, Mathew J., Butler, Ernest G., Kumar, Kishore R., Wu, Kathy HC, Tomlinson, Susan E., Tisch, Stephen, Malhotra, Abhishek, Lee-Archer, Matthew, Dolzhenko, Egor, Eberle, Michael A., Roberts, Leslie J., Fogel, Brent L., Brüggemann, Norbert, Lohmann, Katja, Delatycki, Martin B., Bahlo, Melanie, Lockhart, Paul J.

Volltext

Expanding the global prevalence of spinocerebellar ataxia type 42

Volltext