Search Results - "Pipko, Neta"

P103: Operationalizing structured curated scientific literature (CIViC and Hypothesis) in developing gene-specific recommendations of the ClinGen VHL Variant Curation Expert Panel by Ritter, Deborah, Badduke, Chansonette, Anderson, Michael, Danos, Arpad, Doonanco, Kurston, Farncombe, Kirsten, Gallinger, Bailey, Giles, Rachel, Griffith, Malachi, Griffith, Obi, Horton, Carolyn, Hruska, Kathleen, Kang, Hio Chung, Krysiak, Kilannin, Luo, Minjie, Machado, Jerry, Maher, Eamonn, McGoldrick, Kelly, Pesaran, Tina, Pipko, Neta, Ridd, Sarah, Saliba, Jason, Sheen, Clare, Kim, Raymond

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Genome sequencing reveals novel IKBKG structural variants associated with incontinentia pigmenti by Pipko, Neta, Oh, Rachel Youjin, Kaplan, Aiyana, Shugar, Andrea, Szuto, Anna, Weinstein, Miriam, Yoon, Grace, Mendoza-Londono, Roberto, Pope, Elena, Young, Ted, Marshall, Christian R, Costain, Gregory, Lara-Corrales, Irene, Wang, Yiming

“…Through genome sequencing, we identified novel structural variants in the IKBKG gene in two patients affected by incontinentia pigmenti (IP). As a large…”
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Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies by Murtaza, Nadeem, Cheng, Annie A, Brown, Chad O, Meka, Durga Praveen, Hong, Shuai, Uy, Jarryll A, El-Hajjar, Joelle, Pipko, Neta, Unda, Brianna K, Schwanke, Birgit, Xing, Sansi, Thiruvahindrapuram, Bhooma, Engchuan, Worrawat, Trost, Brett, Deneault, Eric, Calderon de Anda, Froylan, Doble, Bradley W, Ellis, James, Anagnostou, Evdokia, Bader, Gary D, Scherer, Stephen W, Lu, Yu, Singh, Karun K

“…There are hundreds of risk genes associated with autism spectrum disorder (ASD), but signaling networks at the protein level remain unexplored. We use…”
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