Michael Wangler, MD

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Jay KL, Gogate N, Ezell K, et al. (2024) Resolution of variable expressivity in a multi-generational family using deep clinical phenotyping and models. Medrxiv : the Preprint Server For Health Sciences
Manor J, Jangam SV, Chung HL, et al. (2024) Genetic analysis of the X-linked Adrenoleukodystrophy in uncovers a role in Peroxisomal dynamics. Biorxiv : the Preprint Server For Biology
Huang Y, Jay KL, Huang AY, et al. (2024) Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101218
Mao D, Liu C, Wang L, et al. (2024) AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders. Nejm Ai. 1
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