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Science, ISSN 0036-8075, 1/2014, Volume 343, Issue 6170, pp. 506 - 511
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2014, Volume 94, Issue 1, pp. 80 - 86
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2012, Volume 90, Issue 3, pp. 457 - 466
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2013, Volume 12, Issue 12, pp. 1159 - 1169
Journal Article
Science Translational Medicine, ISSN 1946-6234, 2012, Volume 4, Issue 138, pp. 138ra78 - 138ra78
The translation of "next-generation" sequencing directly to the clinic is still being assessed but has the potential for genetic diseases to reduce costs,... 
MEDICINE, RESEARCH & EXPERIMENTAL | DE-NOVO | MISSENSE | GENE | STANDARDS | PONTOCEREBELLAR HYPOPLASIA | DISORDERS | MUTATIONS | ALPHA-MANNOSIDOSIS | MAP | COPY-NUMBER VARIATION | CELL BIOLOGY | Exome - genetics | Pedigree | Humans | Vesicular Transport Proteins - genetics | Female | Male | Mutation | Sequence Analysis, DNA
Journal Article
Elife, ISSN 2050-084X, 2015, Volume 4, Issue MAY, pp. e06602 - 37
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 03/2019, Volume 129, Issue 3, pp. 1240 - 1256
Sphingolipid imbalance is the culprit in a variety of neurological diseases, some affecting the myelin sheath. We have used whole-exome sequencing in patients... 
DIHYDROCERAMIDE DESATURASE | HYDROXYLASE | MEDICINE, RESEARCH & EXPERIMENTAL | INHIBITION | MYELINATION | CERAMIDE SYNTHESIS | DISEASE | ACCUMULATION | MUTATIONS | IDENTIFICATION | INSIGHTS | Fatty Acid Desaturases - genetics | Fingolimod Hydrochloride - pharmacology | Hereditary Central Nervous System Demyelinating Diseases - enzymology | Fatty Acid Desaturases - metabolism | Humans | Brain - enzymology | Animals, Genetically Modified - metabolism | Zebrafish - genetics | Oligodendroglia - pathology | Hereditary Central Nervous System Demyelinating Diseases - pathology | Animals | Animals, Genetically Modified - genetics | Zebrafish - metabolism | Brain - pathology | Oligodendroglia - enzymology | Zebrafish Proteins - genetics | Disease Models, Animal | Hereditary Central Nervous System Demyelinating Diseases - drug therapy | Hereditary Central Nervous System Demyelinating Diseases - genetics | Locomotion - drug effects | Usage | Care and treatment | Multiple sclerosis | Genetic disorders | Magnetic resonance imaging | Exome sequencing | Sphingolipids | Research | Risk factors | Cerebellum | Disease | Lipids | Biosynthesis | Desaturase | Autophagy | Atrophy | Oligodendrocytes | Cell cycle | Ceramide | Fibroblasts | Thalamus | Enzymes | Myelin | Leukodystrophy | Spasticity | Metabolism | Patients | Corpus callosum | Neurological diseases | Insects | FTY720 | Nystagmus | Dystonia | Endoplasmic reticulum | Life Sciences | Genetics | Human genetics
Journal Article
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 707 - 10
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2013, Volume 92, Issue 5, pp. 792 - 799
Journal Article