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Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

Laura S. Kremer, Felix Distelmaier, Bader Alhaddad, Maja Hempel, Arcangela Iuso, Clemens Küpper, Chris Mühlhausen, Réka Kovács-Nagy, Robin Satanovskij, Elisabeth Graf,

The American Journal of Human Genetics · 2016 · 110 citations · 9 references

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9

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

Vincent Plagnol, James Curtis, Michael P. Epstein et al. · Bioinformatics · 2012 · 753 citations · Full text

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Functional genomics reveals genes involved in protein secretion and Golgi organization

Frédéric Bard, Laetitia Casano, Arrate Mallabiabarrena et al. · Nature · 2006 · 380 citations

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Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

Robert W. Taylor, Angela Pyle, Helen Griffin et al. · JAMA · 2014 · 365 citations · Full text

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Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Tobias B. Haack, Penelope Hogarth, Michael C. Kruer et al. · The American Journal of Human Genetics · 2012 · 359 citations · Full text

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Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Tobias B. Haack, Birgit Haberberger, Eva-Maria Frisch et al. · Journal of Medical Genetics · 2012 · 185 citations · Full text

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