From Disease Description and Gene Discovery to Functional Cell Pathway: A Decade-Long Journey for TMCO1
Batchelor-Regan, Helen, Xin, Baozhong, Zhou, Aimin, Wang, Heng
Published in Frontiers in genetics (20.05.2021)
Published in Frontiers in genetics (20.05.2021)
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Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I
He, Huiling, Liyanarachchi, Sandya, Akagi, Keiko, Nagy, Rebecca, Li, Jingfeng, Dietrich, Rosemary C., Li, Wei, Sebastian, Nikhil, Wen, Bernard, Xin, Baozhong, Singh, Jarnail, Yan, Pearlly, Alder, Hansjuerg, Haan, Eric, Wieczorek, Dagmar, Albrecht, Beate, Puffenberger, Erik, Wang, Heng, Westman, Judith A., Padgett, Richard A., Symer, David E., de la Chapelle, Albert
Published in Science (American Association for the Advancement of Science) (08.04.2011)
Published in Science (American Association for the Advancement of Science) (08.04.2011)
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Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke
Xin, Baozhong, Jones, Stephen, Puffenberger, Erik G., Hinze, Claas, Bright, Alicia, Tan, Haiyan, Zhou, Aimin, Wu, Guiyun, Vargus-Adams, Jilda, Agamanolis, Dimitris, Wang, Heng, Caskey, C. Thomas
Published in Proceedings of the National Academy of Sciences - PNAS (29.03.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (29.03.2011)
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Characterization of a novel variant in KCNJ16, encoding Kir5.1 channel
Xu, Biyang, Levchenko, Vladislav, Bohovyk, Ruslan, Ahrari, Ameneh, Geurts, Aron M., Sency, Valerie, Xin, Baozhong, Wang, Heng, Staruschenko, Alexander
Published in Physiological reports (01.10.2024)
Published in Physiological reports (01.10.2024)
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Genetic variations in NLRP3 and NLRP12 genes in adult-onset patients with autoinflammatory diseases: a comparative study
Yun, Mark, Deng, Zuoming, Navetta-Modrov, Brianne, Xin, Baozhong, Yang, Jie, Nomani, Hafsa, Aroniadis, Olga, Gorevic, Peter D, Yao, Qingping
Published in Frontiers in immunology (2023)
Published in Frontiers in immunology (2023)
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Subclinical echocardiographic abnormalities in phenotype-negative carriers of myosin-binding protein C3 gene mutation for hypertrophic cardiomyopathy
De, Sabe, MD, Borowski, Allen G., RDCS, Wang, Heng, MD, PhD, Nye, Leah, CNP, Xin, Baozhong, PhD, Thomas, James D., MD, Tang, W. H. Wilson, MD
Published in The American heart journal (01.08.2011)
Published in The American heart journal (01.08.2011)
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Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation
Xin, Baozhong, Puffenberger, Erik G, Turben, Susan, Tan, Haiyan, Zhou, Aimin, Wang, Heng
Published in Proceedings of the National Academy of Sciences - PNAS (05.01.2010)
Published in Proceedings of the National Academy of Sciences - PNAS (05.01.2010)
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PRL-3 Expression in Metastatic Cancers
BARDELLI, Alberto, SAHA, Saurabh, SAGER, Jason A, ROMANS, Kathy E, BAOZHONG XIN, MARKOWITZ, Sanford D, LENGAUER, Christoph, VELCULESCU, Victor E, KINZLER, Kenneth W, VOGELSTEIN, Bert
Published in Clinical cancer research (15.11.2003)
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Published in Clinical cancer research (15.11.2003)
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Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy
Xin, Baozhong, Puffenberger, Erik, Tumbush, John, Bockoven, J.R., Wang, Heng
Published in American journal of medical genetics. Part A (15.11.2007)
Published in American journal of medical genetics. Part A (15.11.2007)
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Colon cancer secreted protein-2 (CCSP-2), a novel candidate serological marker of colon neoplasia
BAOZHONG XIN, PLATZER, Petra, FINK, Stephen P, REESE, Lisa, NOSRATI, Arman, WILLSON, James K. V, WILSON, Keith, MARKOWITZ, Sanford
Published in Oncogene (20.01.2005)
Published in Oncogene (20.01.2005)
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Tissue-Biased Expansion of DNMT3A-Mutant Clones in a Mosaic Individual Is Associated with Conserved Epigenetic Erosion
Tovy, Ayala, Reyes, Jaime M., Gundry, Michael C., Brunetti, Lorenzo, Lee-Six, Henry, Petljak, Mia, Park, Hyun Jung, Guzman, Anna G., Rosas, Carina, Jeffries, Aaron R., Baple, Emma, Mill, Jonathan, Crosby, Andrew H., Sency, Valerie, Xin, Baozhong, Machado, Heather E., Castillo, Danielle, Weitzel, Jeffrey N., Li, Wei, Stratton, Michael R., Campbell, Peter J., Wang, Heng, Sanders, Mathijs A., Goodell, Margaret A.
Published in Cell stem cell (06.08.2020)
Published in Cell stem cell (06.08.2020)
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