Drosophila models uncover substrate channeling effects on phospholipids and sphingolipids in peroxisomal biogenesis disorders. by Michael F Wangler, Yu-Hsin Chao, Mary Roth, Ruth Welti, James A McNew

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Drosophila models uncover substrate channeling effects on phospholipids and sphingolipids in peroxisomal biogenesis disorders by Michael F. Wangler, Yu-Hsin Chao, Mary Roth, Ruth Welti, James A. McNew

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Distinguishing PEX2 and PEX16 gene variant severity for mild, severe and atypical peroxisome biogenesis disorders by Vanessa A. Gomez, Oguz Kanca, Sharayu V. Jangam, Saurabh Srivastav, Jonathan C. Andrews, Michael F. Wangler

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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

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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

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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. by Michael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, Samantha Penney, Timothy Moss, Atul Chopra, Frank J Probst, Fan Xia, Yaping Yang, Steven Werlin, Ieva Eglite, Liene Kornejeva, Carlos A Bacino, Dustin Baldridge, Jeff Neul, Efrat Lev Lehman, Austin Larson, Joke Beuten, Donna M Muzny, Shalini Jhangiani, Baylor-Hopkins Center for Mendelian Genomics, Richard A Gibbs, James R Lupski, Arthur Beaudet

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