Search Results - Elizabeth Blue

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    P364: Mosaic copy gain of 16p with supernumerary chromosome formation: An emerging phenotype by Arthur Lenahan, Ian Glass, Andrew Stergachis, Cate Paschal, Elizabeth Blue, Aimee Allworth, Ingrid Cristian, Danny Miller, Jennifer Morrison

    Published in Genetics in Medicine Open (2024-01-01)
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  2. 2

    P099: Mosaic variant in RHOA in an adolescent with a multisystem disorder composed of congenital and progressive anomalies by Aimee Allworth, Ian Glass, Anne Hing, Elizabeth Blue, Elisabeth Rosenthal, Sam Strohbehn, Gail Jarvik, Katrina Dipple, Andrew Stergachis, Virginia Sybert, Jane Ranchalis, Martha Horike-Pyne, Sirisak Chanprasert, Fuki Hisama, Michael Bamshad, James Bennett, Heather Brandling-Bennett, Michelle Cabrera, Mark Wener

    Published in Genetics in Medicine Open (2023-01-01)
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  3. 3

    Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function by Mengqi Ma, Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Xi Luo, Michelle Etoundi, David Li-Kroeger, Kim C Worley, Lindsay C Burrage, Lauren S Blieden, Aimee Allworth, Wei-Liang Chen, Giuseppe Merla, Barbara Mandriani, Catherine E Otten, Pierre Blanc, Jill A Rosenfeld, Debdeep Dutta, Shinya Yamamoto, Michael F Wangler, Ian A Glass, Jingheng Chen, Elizabeth Blue, Paolo Prontera, Jeremie Rosain, Sandrine Marlin, Seema R Lalani, Hugo J Bellen, Undiagnosed Diseases Network

    Published in eLife (2025-08-01)
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