Concepedia

Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities

Chulaluck Kuptanon, Chalurmpon Srichomthong, Chupong Ittiwut, Thanin Wechapinan, Somjit Sri-udomkajorn, Orawan Iamopas, Chureerat Phokaew, Kanya Suphapeetiporn, Vorasuk Shotelersuk

Gene · 2019 · 19 citations · 11 references

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References

11

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test

Julien Thévenon, Yannis Duffourd, Alice Masurel‐Paulet et al. · Clinical Genetics · 2016 · 269 citations

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Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

Penelope E. Bonnen, John W. Yarham, Arnaud Besse et al. · The American Journal of Human Genetics · 2013 · 179 citations · Full text

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Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

Magnus Bjursell, Henk J. Blom, Jordi Asin Cayuela et al. · The American Journal of Human Genetics · 2011 · 135 citations · Full text

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Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

Christian Staufner, Martin Lindner, Carlo Dionisi‐Vici et al. · Journal of Inherited Metabolic Disease · 2015 · 67 citations · Full text

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<i>UNC80</i> mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel <i>NALCN</i>

Yonatan Perez, Rotem Kadir, Michael Volodarsky et al. · Journal of Medical Genetics · 2015 · 57 citations

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