Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering

Journal of Neurology

Volumn 262, Issue 7, 2015, Pages 1673-1677

  Daud, Daniyal ^a,b   Griffin, Helen ^a   Douroudis, Konstantinos ^a   Kleinle, Stephanie ^c   Eglon, Gail ^a   Pyle, Angela ^a   Chinnery, Patrick F ^a   Horvath, Rita ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b JAMES COOK UNIVERSITY HOSPITAL   (United Kingdom)

^c Center of Medical Genetics   (Germany)

Author keywords

Genetics; Motor neuropathy; Spastic paraplegia; Whole exome sequencing

Indexed keywords

CREATINE KINASE; DYNACTIN; DYNACTIN P150 SUBUNIT; GAMMA GLUTAMYLTRANSFERASE; KIF5A PROTEIN; KINESIN; NEUROFILAMENT HEAVY CHAIN PROTEIN; NEUROFILAMENT PROTEIN; UNCLASSIFIED DRUG; DCTN1 PROTEIN, HUMAN; KIF5A PROTEIN, HUMAN; MICROTUBULE ASSOCIATED PROTEIN; NEUROFILAMENT PROTEIN H;

AGED; ANTERIOR HORN CELL DISEASE; ARTICLE; ATAXIA; AXONAL INJURY; CASE REPORT; CEREBELLUM ATROPHY; CERVICAL SPONDYLOSIS; CREATINE KINASE BLOOD LEVEL; DYSTONIA; ELECTROMYOGRAPHY; EXOME; EXTRAPYRAMIDAL SYNDROME; FACE DISORDER; GAIT DISORDER; GAMMA GLUTAMYL TRANSFERASE BLOOD LEVEL; GENE MUTATION; GENE SEQUENCE; GENE VARIANT FILTERING; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; MALE; MOTOR NEUROPATHY; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE RIGIDITY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TREMOR; WHOLE EXOME SEQUENCING; WRIST DISEASE; BACKACHE; COMPLICATION; DISEASE COURSE; DNA SEQUENCE; GENETICS; MOTOR DYSFUNCTION; MUTATION; SCIATICA;

AGED; BACK PAIN; BASAL GANGLIA DISEASES; DISEASE PROGRESSION; DYNACTIN COMPLEX; HUMANS; KINESIN; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MOVEMENT DISORDERS; MUTATION; NEUROFILAMENT PROTEINS; SCIATICA; SEQUENCE ANALYSIS, DNA;

EID: 84937970566     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-015-7755-y     Document Type: Article

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