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2. De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders

Qi, Hongjian; Yu, Lan; Zhou, Xueya; Wynn, Julia; Zhao, Haoquan; Guo, Yicheng; Zhu, Na; Kitaygorodsky, Alexander; Hernan, Rebecca Rose; Aspelund, Gudrun; Lim, Foong-Yen; Crombleholme, Timothy; Cusick, Robert; Azarow, Kenneth; Danko, Melissa E.; Chung, Dai; Warner, Brad W.; Mychaliska, George B.; Potoka, Douglas; Wagner, Amy J.; ElFiky, Mahmoud; Wilson, Jay M.; Nickerson, Debbie; Bamshad, Michael; High, Frances A.; Longoni, Mauro; Donahoe, Patricia K.; Chung, Wendy K.; Shen, Yufeng
2018
Articles
Diaphragmatic herniaGenetic disordersMyelin genes--Expression

5. Gene-Wise Association of Variants in Four Lysosomal Storage Disorder Genes in Neuropathologically Confirmed Lewy Body Disease

Clark, Lorraine N.; Chan, Robin Barry; Cheng, Rong; Liu, Xinmin; Park, Naeun; Parmalee, Nancy; Kisselev, Sergey; Cortes, Etty Paola; Torres, Paola A.; Pastores, Gregory M.; Vonsattel, Jean Paul; Alcalay, Roy Nissim; Marder, Karen; Honig, Lawrence S.; Fahn, Stanley; Mayeux, Richard Paul; Shelanski, Michael L.; Di Paolo, Gilbert; Lee, Joseph H.
2015
Articles
Nervous system--DiseasesBioinformaticsLysosomal storage diseasesNeurologyPathologyBiochemistry

7. Gene functional similarity search tool (GFSST)

Zhang, Peisen; Zhang, Jinghui; Sheng, Huitao; Russo, James J.; Osborne, Brian; Buetow, Kenneth
2006
Articles
GenesDatabase searchingBioinformaticsInformation storage and retrieval systems--ScienceGenetics