Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea[S]
Gluchowski, Nina L., Chitraju, Chandramohan, Picoraro, Joseph A., Mejhert, Niklas, Pinto, Shirly, Xin, Winnie, Kamin, Daniel S., Winter, Harland S., Chung, Wendy K., Walther, Tobias C., Farese, Robert V.
Published in Journal of lipid research (01.06.2017)
Published in Journal of lipid research (01.06.2017)
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Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis
Fietz, Michael, AlSayed, Moeenaldeen, Burke, Derek, Cohen-Pfeffer, Jessica, Cooper, Jonathan D., Dvořáková, Lenka, Giugliani, Roberto, Izzo, Emanuela, Jahnová, Helena, Lukacs, Zoltan, Mole, Sara E., Noher de Halac, Ines, Pearce, David A., Poupetova, Helena, Schulz, Angela, Specchio, Nicola, Xin, Winnie, Miller, Nicole
Published in Molecular genetics and metabolism (01.09.2016)
Published in Molecular genetics and metabolism (01.09.2016)
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A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System
Staropoli, John F., Karaa, Amel, Lim, Elaine T., Kirby, Andrew, Elbalalesy, Naser, Romansky, Stephen G., Leydiker, Karen B., Coppel, Scott H., Barone, Rosemary, Xin, Winnie, MacDonald, Marcy E., Abdenur, Jose E., Daly, Mark J., Sims, Katherine B., Cotman, Susan L.
Published in American journal of human genetics (13.07.2012)
Published in American journal of human genetics (13.07.2012)
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Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis
Wu, David, Yu, Wenhao, Kishikawa, Hiroko, Folkerth, Rebecca D., Iafrate, A. John, Shen, Yiping, Xin, Winnie, Sims, Katherine, Hu, Guo-fu
Published in Annals of neurology (01.12.2007)
Published in Annals of neurology (01.12.2007)
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Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families
Velinov, Milen, Dolzhanskaya, Natalia, Gonzalez, Michael, Powell, Eric, Konidari, Ioanna, Hulme, William, Staropoli, John F, Xin, Winnie, Wen, Guang Y, Barone, Rosemary, Coppel, Scott H, Sims, Katherine, Brown, W Ted, Züchner, Stephan
Published in PloS one (03.01.2012)
Published in PloS one (03.01.2012)
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Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency
Yuritzi Santillán-Hernández Enory Almanza-Miranda Winnie W Xin Kendrick Goss Aurea Vera-Loaiza María T Gorráez-de la Mora Raul E Pi?a-Aguilar
Published in World journal of gastroenterology : WJG (21.01.2015)
Published in World journal of gastroenterology : WJG (21.01.2015)
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Mass Spectrometry-based Protein Profiling to Determine the Cause of Lysosomal Storage Diseases of Unknown Etiology
Sleat, David E., Ding, Lin, Wang, Shudan, Zhao, Caifeng, Wang, Yanhong, Xin, Winnie, Zheng, Haiyan, Moore, Dirk F., Sims, Katherine B.
Published in Molecular & cellular proteomics (01.07.2009)
Published in Molecular & cellular proteomics (01.07.2009)
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Correction: Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families
Velinov, Milen, Dolzhanskaya, Natalia, Gonzalez, Michael, Powell, Eric, Konidari, Ioanna, Hulme, William, Staropoli, John F., Xin, Winnie, Wen, Guang Y., Barone, Rosemary, Coppel, Scott H., Sims, Katherine, Brown, W. Ted, Züchner, Stephan
Published in PloS one (05.09.2012)
Published in PloS one (05.09.2012)
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Incidental molecular diagnoses and heterozygous risk alleles in a carrier screening cohort
Reiner, Jennifer, Rosenblum, Lynne S., Xin, Winnie, Zhou, Zhaoqing, Zhu, Hui, Leach, Natalia
Published in Genetics in medicine (01.02.2023)
Published in Genetics in medicine (01.02.2023)
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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Cirulli, Elizabeth T., Lasseigne, Brittany N., Petrovski, Slavé, Sapp, Peter C., Dion, Patrick A., Leblond, Claire S., Couthouis, Julien, Lu, Yi-Fan, Wang, Quanli, Krueger, Brian J., Ren, Zhong, Keebler, Jonathan, Han, Yujun, Levy, Shawn E., Boone, Braden E., Wimbish, Jack R., Waite, Lindsay L., Jones, Angela L., Carulli, John P., Day-Williams, Aaron G., Staropoli, John F., Xin, Winnie W., Chesi, Alessandra, Raphael, Alya R., McKenna-Yasek, Diane, Cady, Janet, de Jong, J. M. B. Vianney, Kenna, Kevin P., Smith, Bradley N., Topp, Simon, Miller, Jack, Gkazi, Athina, Al-Chalabi, Ammar, van den Berg, Leonard H., Veldink, Jan, Silani, Vincenzo, Ticozzi, Nicola, Shaw, Christopher E., Baloh, Robert H., Appel, Stanley, Simpson, Ericka, Lagier-Tourenne, Clotilde, Pulst, Stefan M., Gibson, Summer, Trojanowski, John Q., Elman, Lauren, McCluskey, Leo, Grossman, Murray, Shneider, Neil A., Chung, Wendy K., Ravits, John M., Glass, Jonathan D., Sims, Katherine B., Van Deerlin, Vivianna M., Maniatis, Tom, Hayes, Sebastian D., Ordureau, Alban, Swarup, Sharan, Landers, John, Baas, Frank, Allen, Andrew S., Bedlack, Richard S., Harper, J. Wade, Gitler, Aaron D., Rouleau, Guy A., Brown, Robert, Harms, Matthew B., Cooper, Gregory M., Harris, Tim, Myers, Richard M., Goldstein, David B.
Published in Science (American Association for the Advancement of Science) (27.03.2015)
Published in Science (American Association for the Advancement of Science) (27.03.2015)
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Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk
Rosenblum, Lynne S., Auger, Stephanie M., Zhu, Hui, Zhou, Zhaoqing, Xin, Winnie, Reiner, Jennifer, Wolf, Zena, Leach, Natalia T.
Published in The Journal of molecular diagnostics : JMD (01.03.2024)
Published in The Journal of molecular diagnostics : JMD (01.03.2024)
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Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk: Laboratory Experience and Considerations
Rosenblum, Lynne S, Auger, Stephanie M, Zhu, Hui, Zhou, Zhaoqing, Xin, Winnie, Reiner, Jennifer, Wolf, Zena, Leach, Natalia T
Published in The Journal of molecular diagnostics : JMD (01.03.2024)
Published in The Journal of molecular diagnostics : JMD (01.03.2024)
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Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy
Maron, Martin S., Xin, Winnie, Sims, Katherine B., Butler, Rita, Haas, Tammy S., Rowin, Ethan J., Desnick, Robert J., Maron, Barry J.
Published in The American journal of medicine (01.02.2018)
Published in The American journal of medicine (01.02.2018)
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Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers
Sleat, David E, Tannous, Abla, Sohar, Istvan, Wiseman, Jennifer A, Zheng, Haiyan, Qian, Meiqian, Zhao, Caifeng, Xin, Winnie, Barone, Rosemary, Sims, Katherine B, Moore, Dirk F, Lobel, Peter
Published in Journal of proteome research (06.10.2017)
Published in Journal of proteome research (06.10.2017)
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