Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye

Author:

Evers Christina1ORCID,Seitz Angelika2,Assmann Birgit3,Opladen Thomas3,Karch Stephanie3,Hinderhofer Katrin1,Granzow Martin1,Paramasivam Nagarajan45,Eils Roland46,Diessl Nicolle7,Bartram Claus R.1,Moog Ute1

Affiliation:

1. Institute of Human Genetics; Heidelberg University; Heidelberg Germany

2. Department of Neuroradiology; University Hospital Heidelberg; Heidelberg Germany

3. Center for Child and Adolescent Medicine; Pediatric Neurology; Heidelberg University Hospital; Heidelberg Germany

4. Division of Theoretical Bioinformatics; German Cancer Research Center (DKFZ); Heidelberg Germany

5. Medical Faculty Heidelberg; Heidelberg University; Germany

6. Department for Bioinformatics and Functional Genomics; Institute for Pharmacy and Molecular Biotechnology (IPMB) and BioQuant; Heidelberg University; Heidelberg Germany

7. Genomics and Proteomics Core Facility (GPCF); High Throughput Sequencing; German Cancer Research Center (DKFZ); Heidelberg Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference39 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010

2. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome;Alazami;American Journal of Human Genetics,2008

3. Mutational analysis of COASY in an Italian patient with NBIA;Annesi;Parkinsonism & Related Disorders,2016

4. Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: Unifying theories;Arber;Neuropathology and Applied Neurobiology 10.1111/nan.,2015

5. Predicting the functional effect of amino acid substitutions and indels;Choi;PLoS ONE,2012

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