Concepedia

TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study

Barbara Ogórek, Lana Hamieh, Hanna M. Hulshof, Kathryn D. Lasseter, Katarzyna Klonowska, Hugo J. Kuijf, Romina Moavero, Christoph Hertzberg, Bernhard Weschke, Kate Riney,

Genetics in Medicine · 2020 · 96 citations · 17 references

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17

Trimmomatic: a flexible trimmer for Illumina sequence data

Anthony Bolger, Marc Lohse, Björn Usadel · Bioinformatics · 2014 · 69.7K citations · Full text

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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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Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

Hope Northrup, Darcy A. Krueger, Hope Northrup et al. · Pediatric Neurology · 2013 · 1.5K citations · Full text

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Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs

Sandra L. Dabora, Sergiusz Jóźwiak, David Neal Franz et al. · The American Journal of Human Genetics · 2001 · 1K citations · Full text

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