Concepedia

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Mohammad Ali Farazi Fard, Adriana Rebelo, Elena Buglo, Hamid Nemati, Hassan Dastsooz, Ina Gehweiler, Selina Reich, Jennifer Reichbauer, Beatriz Quintáns, Andrés Ordóñez‐Ugalde,

The American Journal of Human Genetics · 2019 · 62 citations · 11 references

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11

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 30K citations · Full text

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Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

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Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

Rebecca Schüle, Sarah Wiethoff, Peter Martus et al. · Annals of Neurology · 2016 · 311 citations

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UBAP1 Is a Component of an Endosome-Specific ESCRT-I Complex that Is Essential for MVB Sorting

Flavia Stefani, Ling Zhang, Sandra Taylor et al. · Current Biology · 2011 · 125 citations · Full text

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