Michael Wangler, MD

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Ma M, Ganapathi M, Zheng Y, et al. (2024) Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101125
Pan X, Tao AM, Lu S, et al. (2024) De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. American Journal of Human Genetics
Vuocolo B, German RJ, Lalani SR, et al. (2024) Improving access to exome sequencing in a medically underserved population through the Texome Project. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101102
Dutta D, Kanca O, Shridharan RV, et al. (2024) Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability. Proceedings of the National Academy of Sciences of the United States of America. 121: e2322582121
Ma M, Zheng Y, Lu S, et al. (2024) variants in are associated with hearing impairment, ocular pathology, and cardiac defects. Medrxiv : the Preprint Server For Health Sciences
Nil Z, Deshwar AR, Huang Y, et al. (2023) Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies. American Journal of Human Genetics
Yamamoto S, Kanca O, Wangler MF, et al. (2023) Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans. Nature Reviews. Genetics
Guichard A, Lu S, Kanca O, et al. (2023) A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins. Cell Reports. 42: 112842
Jangam SV, Briere LC, Jay KL, et al. (2023) A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. Genetics
Tepe B, Macke EL, Niceta M, et al. (2023) Bi-allelic variants in INTS11 are associated with a complex neurological disorder. American Journal of Human Genetics