Search Results - Hugo Bellen

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  1. 1

    O24: Heterozygous de novo variants in CDKL1 and CDKL2 cause neuroregressive phenotypes in Human and Drosophila and are dominant negative alleles by Ali H. Bereshneh, Jonathan Andrews, Daniel Eberl, Guney Bademci, Nicholas Borja, Stephanie Bivona, Shinya Yamamoto, Michael F. Wangler, Shane McKee, Mustafa Tekin, Wendy Chung, Hugo Bellen, Oguz Kanca

    Published in Genetics in Medicine Open (2025-01-01)
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  2. 2

    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 in Genetics in Medicine Open (2025-01-01)
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  3. 3

    P495: Improving access to exome sequencing in medically underserved populations through the Texome Project: A summary of the first 74 cases by Blake Vuocolo, Ryan German, Carlos Bacino, Chaya Murali, Seema Lalani, Stephanie Baskin, Elizabeth Roeder, Carrie Schmid, Scott McLean, Rebecca Littlejohn, Olivia Juarez, Melissa Stuebben, Liesbeth Vossaert, Nichole Owen, Christine Eng, Pengfei Liu, Zhandong Liu, Dongxue Mao, Seon Young Kim, Sasidhar Pasupuleti, Shinya Yamamoto, Hugo Bellen, Michael Wangler

    Published in Genetics in Medicine Open (2024-01-01)
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  4. 4

    P173: Precision animal modeling and VUS-resolution in a novel AXIN2-related disorder by Lindsay Burrage, Denise Lanza, Paul Marcogliese, Di Lu, Chih-Wei Logan Hsu, Nathalie Aceves, Matthew Gonzalez, Audrey Christiansen, Tara Rasmussen, Angelina Gaspero, John Seavitt, Mary Dickinson, Brian Shayota, Stephanie Pachter, Debra-Lynn Day-Salvatore, Oguz Kanca, Michael Wangler, Lorraine Potocki, Jill Rosenfeld, Brendan Lee, Shinya Yamamoto, Hugo Bellen, Jason Heaney

    Published in Genetics in Medicine Open (2024-01-01)
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  5. 5

    P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature by Kevin Booth, Sharayu Jangam, Martin Man Chun Chui, Kayla Treat, Lorenzo Graziani, Alessia Soldano, Kerry White, Celanie Christensen, Ty Lynnes, Shinya Yamamoto, Oguz Kanca, Mandy Tsang, Sally Lynch, Sureni Mullegama, Julia Baptista, Daniela Iancu, Shelag Joss, Christopher CY Mak, Anna Kwong, Hugo Bellen, Erin Conboy, Remo Sanges, Michael F. Wangler, Brian Hon-Yin Chung, Francesco Vetrini

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