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Nature Genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 941 - 945
Journal Article
Science, ISSN 0036-8075, 2014, Volume 343, Issue 6170, pp. 506 - 511
Journal Article
Science, ISSN 0036-8075, 10/2012, Volume 338, Issue 6105, pp. 394 - 397
Autism spectrum disorders are a genetically heterogeneous constellation of syndromes characterized by impairments in reciprocal social interaction. Available... 
Phenotypes | Autistic disorder | Diet | Branched chain amino acids | Epilepsy | REPORTS | Stem cells | Amino acids | Pluripotent stem cells | Genetic mutation | Blood plasma | SYRUP-URINE-DISEASE | DEHYDROGENASE KINASE | TRANSPORT | METABOLISM | AMINO-ACIDS | MULTIDISCIPLINARY SCIENCES | MICE | EXPRESSION | 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) - administration & dosage | Autistic Disorder - diet therapy | Phosphorylation | Humans | Child, Preschool | Molecular Sequence Data | 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) - deficiency | Male | RNA, Messenger - metabolism | Epilepsy - diet therapy | Intellectual Disability - genetics | Brain - metabolism | Young Adult | Amino Acids, Branched-Chain - administration & dosage | Autistic Disorder - enzymology | Arginine - genetics | Base Sequence | Intellectual Disability - enzymology | Epilepsy - genetics | Female | Child | Intellectual Disability - diet therapy | Autistic Disorder - genetics | Epilepsy - enzymology | Protein Structure, Tertiary | Protein Folding | Mice, Knockout | Homozygote | Animals | Pedigree | Adolescent | 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) - genetics | Mice | Mutation | Amino Acids, Branched-Chain - blood | Amino Acids, Branched-Chain - deficiency | Autism | Care and treatment | Gene mutations | Genetic aspects | Properties | Identification and classification | Genes | Index Medicus | Mutations | Disabilities | Kinases | Patients
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 | Index Medicus
Journal Article
Cell, ISSN 0092-8674, 04/2014, Volume 157, Issue 3, pp. 651 - 663
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2009, Volume 41, Issue 9, pp. 1032 - 1036
Journal Article
Cell, ISSN 0092-8674, 07/2010, Volume 142, Issue 2, pp. 203 - 217
Journal Article
Nature Medicine, ISSN 1078-8956, 06/2011, Volume 17, Issue 6, pp. 726 - 731
The ciliopathy Joubert syndrome is marked by cerebellar vermis hypoplasia, a phenotype for which the pathogenic mechanism is unclear(1-3). To investigate... 
RETINAL DEGENERATION | MEDICINE, RESEARCH & EXPERIMENTAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISORDERS | CENTROSOMAL PROTEIN | PRIMARY CILIUM | CELL BIOLOGY | MORPHOGENESIS | MUTATIONS CAUSE | PROGENITOR POOL | AHI1 GENE | CEP290 | MEDULLOBLASTOMA | Cerebellar Diseases - etiology | Humans | Cerebellum - abnormalities | Cerebellum - physiology | Kidney Diseases, Cystic - etiology | Wnt Proteins - genetics | Cerebellar Diseases - pathology | Mice, Mutant Strains | Eye Abnormalities - etiology | Kidney Diseases, Cystic - genetics | Nuclear Proteins - genetics | Disease Models, Animal | Lithium - pharmacology | Abnormalities, Multiple | Proto-Oncogene Proteins - genetics | Eye Abnormalities - genetics | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Magnetic Resonance Imaging | Phenotype | Animals | Cerebellar Diseases - genetics | Eye Abnormalities - pathology | Signal Transduction - drug effects | Proto-Oncogene Proteins - physiology | Retina - abnormalities | Cerebellum - growth & development | Signal Transduction - physiology | Mice | Nuclear Proteins - physiology | Wnt Proteins - physiology | Retina - pathology | Brain | Joubert syndrome | Physiological aspects | Cellular signal transduction | Research | Diagnosis | Risk factors | Genotype & phenotype | Biomedical research | Mutation | Pathogenesis | Rodents | Developmental disabilities | Index Medicus | Ahi1 | Neuroscience | Jouberin | signaling | ataxia | cilia | Wnt | cerebellum
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2008, Volume 83, Issue 2, pp. 170 - 179
Journal Article