Concepedia

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

Maolei Gong, Jiayi Li, Zailong Qin, Matheus Vernet Machado Bressan Wilke, Yijun Liu, Qian Li, Haoran Liu, Liang Chen, Joel A. Morales‐Rosado, Ana S.A. Cohen,

The American Journal of Human Genetics · 2024 · 17 citations · 61 references

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61

Highly accurate protein structure prediction with AlphaFold

John Jumper, Alexander Pritzel, Tim Green et al. · Nature · 2021 · 45.2K citations · Full text

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

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fastp: an ultra-fast all-in-one FASTQ preprocessor

Shifu Chen, Yanqing Zhou, Yaru Chen et al. · Bioinformatics · 2018 · 29.7K citations · Full text

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Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014

Jon Baio, Lisa D. Wiggins, Deborah Christensen et al. · MMWR Surveillance Summaries · 2018 · 5.5K citations · Full text

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Comparative Protein Structure Modeling Using Modeller

Narayanan Eswar, Ben Webb, Marc A. Martı́-Renom et al. · Current Protocols in Bioinformatics · 2006 · 4.6K citations · Full text

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