Showing 1 - 6 results of 6 for search 'Jennifer Posey', query time: 0.02s Refine Results
  1. 1
    P197: Examining the phenotypic depth of the U03 genomic research to elucidate the genetics of rare disease (GREGoR) dataset

    P197: Examining the phenotypic depth of the U03 genomic research to elucidate the genetics of rare disease (GREGoR) dataset by Priya Yelemali, Jennifer Posey

    Published 2025-01-01
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  2. 2
    P722: VariantMatcher and the variant-level matching network to facilitate variant classification and disease gene discovery

    P722: VariantMatcher and the variant-level matching network to facilitate variant classification and disease gene discovery by Nara Sobreira, Marcelo Szeremeta, Darine Villela, Renan Martin, Sean Griffith, Laura Vail, Jennifer Posey, Kimberly Doheny, James Lupski, David Valle, Ada Hamosh, Corina Antonescu

    Published 2025-01-01
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  3. 3
    P330: Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 gene

    P330: Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 gene by Shruti Pande, Christopher Grochowski, Davut Pehlivan, Parneet Kaur, Zain Dardas, Haowei Du, Chelsi Rose, Josephine Wincent, Shalini Jhangiani, Lorraine Potocki, Philip Hastings, Jennifer Posey, Anna Lindstrand, Claudia Carvalho, James Lupski

    Published 2025-01-01
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  4. 4
    O34: Precision medicine models for rare and undiagnosed Mendelian disorders

    O34: Precision medicine models for rare and undiagnosed Mendelian disorders by Lindsay Burrage, Denise Lanza, Jill Rosenfeld, Shinya Yamamoto, Michael F. Wangler, Hugo Bellen, Oguz Kanca, Jeffrey Rogers, Matthew Roth, Ramin Zahedi Darshoori, Vivek Ramanathan, Uma Ramamurthy, Jennifer Posey, Sandesh Nagamani, Aleksandar Milosavljevic, Jason Heaney

    Published 2025-01-01
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  5. 5
    O28: GREGoR: Accelerating genomics for rare diseases

    O28: GREGoR: Accelerating genomics for rare diseases by Moez Dawood, Ben Heavner, Marsha Wheeler, Rachel Ungar, Jonathan LoTempio, Laurens Wiel, Seth Berger, Jonathan Bernstein, Jessica Chong, Emmanuèle Délot, Evan Eichler, Richard Gibbs, James Lupski, Ali Shojaie, Michael Talkowski, Chia-Lin Wei, Matthew Wheeler, Eric Vilain, Fritz Sedlazeck, Danny Miller, Casey Gifford, Susanne May, Heidi Rehm, Anne O'Donnell-Luria, Jennifer Posey, Lisa Chadwick, Michael Bamshad, Stephen Montgomery

    Published 2025-01-01
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  6. 6
    Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder

    Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder by Bobby G. Ng, Erik A. Eklund, Jill A. Rosenfeld, Abdallah F. Elias, Aya Abu-El-Haija, Celine Bris, Magalie Barth, Jong-Hee Chae, Murim Choi, Holly A. Dubbs, Carl Fratter, Nicola Foulds, Candace Gamble, Ralitza H. Gavrilova, Jaclyn Haven, Trevor L. Hoffman, Jill V. Hunter, Austin Larson, Timothy Edward Lotze, Pilar Magoulas, Emily C. Magness, Debra M. Bootin, Eric D. Marsh, Victoria Nesbitt, Matthew T. Pastore, Joanna Poulton, Shamima Rahman, Fernando Scaglia, Chaya Murali, Jennifer Posey, Joshua Rotenberg, Betsy Schmalz, Deepali N. Shinde, Zöe Powis, Rivka Sukenik-Halevy, Kristen V. Truxal, Tami Uster, Matheus Vernet Machado Bressan Wilke, Erik Klee, Hyewon Woo, Donald Younkin, Jianhua Zhao, Jorge Granadillo, Seema Lalani, David Chitayat, Wendy K. Chung, Hudson H. Freeze, Volkan Okur

    Published 2025-01-01
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