Risultati della ricerca - Jin, Sheng Chih

Unique features in the intracellular transport of typhoid toxin revealed by a genome-wide screen di Chang, Shu-Jung, Jin, Sheng Chih, Jiao, Xuyao, Galán, Jorge E.

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Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease di Xie, Yuhan, Jiang, Wei, Dong, Weilai, Li, Hongyu, Jin, Sheng Chih, Brueckner, Martina, Zhao, Hongyu

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A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9 di Antwi, Prince, Hong, Christopher S., Duran, Daniel, Jin, Sheng Chih, Dong, Weilai, DiLuna, Michael, Kahle, Kristopher T.

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Analysis workflow to assess de novo genetic variants from human whole-exome sequencing di Diab, Nicholas S., King, Spencer, Dong, Weilai, Allington, Garrett, Sheth, Amar, Peters, Samuel T., Kahle, Kristopher T., Jin, Sheng Chih

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Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort di Jin, Sheng Chih, Pastor, Pau, Cooper, Breanna, Cervantes, Sebastian, Benitez, Bruno A, Razquin, Cristina, Goate, Alison, Cruchaga, Carlos

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Exome Sequencing as a Potential Diagnostic Adjunct in Sporadic Congenital Hydrocephalus di Sullivan, William, Reeves, Benjamin C., Duy, Phan Q., Nelson-Williams, Carol, Dong, Weilai, Jin, Sheng Chih, Kahle, Kristopher T.

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Molecular Genetics and Complex Inheritance of Congenital Heart Disease di Diab, Nicholas S., Barish, Syndi, Dong, Weilai, Zhao, Shujuan, Allington, Garrett, Yu, Xiaobing, Kahle, Kristopher T., Brueckner, Martina, Jin, Sheng Chih

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Integrative modeling of transmitted and de novo variants identifies novel risk genes for congenital heart disease di Li, Mo, Zeng, Xue, Jin, Chentian, Jin, Sheng Chih, Dong, Weilai, Brueckner, Martina, Lifton, Richard, Lu, Qiongshi, Zhao, Hongyu

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Alzheimer's disease-associated TREM2 variants exhibit either decreased or increased ligand-dependent activation di Song, Wilbur, Hooli, Basavaraj, Mullin, Kristina, Jin, Sheng Chih, Cella, Marina, Ulland, Tyler K., Wang, Yaming, Tanzi, Rudolph, Colonna, Marco

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Quantifying concordant genetic effects of de novo mutations on multiple disorders di Guo, Hanmin, Hou, Lin, Shi, Yu, Jin, Sheng Chih, Zeng, Xue, Li, Boyang, Lifton, Richard P, Brueckner, Martina, Zhao, Hongyu, Lu, Qiongshi

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Insights From Genetic Studies of Cerebral Palsy di Lewis, Sara A., Shetty, Sheetal, Wilson, Bryce A., Huang, Aris J., Jin, Sheng Chih, Smithers-Sheedy, Hayley, Fahey, Michael C., Kruer, Michael C.

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Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy di Bakhtiari, Somayeh, Tafakhori, Abbas, Jin, Sheng Chih, Guida, Brandon S., Alehabib, Elham, Firouzbadi, Saghar, Bilguvar, Kaya, Fahey, Michael C., Darvish, Hossein, Kruer, Michael C.

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Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson’s Disease di Benitez, Bruno A., Davis, Albert A., Jin, Sheng Chih, Ibanez, Laura, Ortega-Cubero, Sara, Pastor, Pau, Choi, Jiyoon, Cooper, Breanna, Perlmutter, Joel S., Cruchaga, Carlos

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Brain ventricles as windows into brain development and disease di Duy, Phan Q., Rakic, Pasko, Alper, Seth L., Butler, William E., Walsh, Christopher A., Sestan, Nenad, Geschwind, Daniel H., Jin, Sheng Chih, Kahle, Kristopher T.

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SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus di Jin, Sheng Chih, Furey, Charuta G., Zeng, Xue, Allocco, August, Nelson‐Williams, Carol, Dong, Weilai, Karimy, Jason K., Wang, Kevin, Ma, Shaojie, Delpire, Eric, Kahle, Kristopher T.

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Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability di Lewis, Sara A., Bakhtiari, Somayeh, Heim, Jennifer, Cornejo, Patricia, Liu, James, Huang, Aris, Musmacker, Andrew, Jin, Sheng Chih, Bilguvar, Kaya, Padilla-Lopez, Sergio R., Kruer, Michael C.

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Mutation spectrum of congenital heart disease in a consanguineous Turkish population di Dong, Weilai, Kaymakcalan, Hande, Jin, Sheng Chih, Diab, Nicholas S., Tanıdır, Cansaran, Yalcin, Ali Seyfi Yalim, Ercan‐Sencicek, A. Gulhan, Mane, Shrikant, Gunel, Murat, Lifton, Richard P., Bilguvar, Kaya, Brueckner, Martina

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Coding variants in TREM2 increase risk for Alzheimer's disease di Jin, Sheng Chih, Benitez, Bruno A., Karch, Celeste M., Cooper, Breanna, Skorupa, Tara, Carrell, David, Norton, Joanne B., Hsu, Simon, Harari, Oscar, Cai, Yefei, Bertelsen, Sarah, Goate, Alison M., Cruchaga, Carlos

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De novo MYH9 mutation in congenital scalp hemangioma di Fomchenko, Elena I., Duran, Daniel, Jin, Sheng Chih, Dong, Weilai, Erson-Omay, E. Zeynep, Antwi, Prince, Allocco, August, Gaillard, Jonathan R., Huttner, Anita, Gunel, Murat, DiLuna, Michael L., Kahle, Kristopher T.

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Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility di Robson, Andrew, Makova, Svetlana Z., Barish, Syndi, Zaidi, Samir, Mehta, Sameet, Drozd, Jeffrey, Jin, Sheng Chih, Gelb, Bruce D., Seidman, Christine E., Chung, Wendy K., Lifton, Richard P., Khokha, Mustafa K., Brueckner, Martina

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