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Genome research, ISSN 1549-5469, 2017, Volume 27, Issue 5, pp. 757 - 767
Determining the genome sequence of an organism is challenging, yet fundamental to understanding its biology. Over the past decade, thousands of human genomes... 
GENETIC-VARIATION | IN-VITRO | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | DNA | INFORMATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | DISCOVERY | Method
Journal Article
Genome research, 05/2017, Volume 27, Issue 5, p. 757
Determining the genome sequence of an organism is challenging, yet fundamental to understanding its biology. Over the past decade, thousands of human genomes... 
Diploidy | Humans | Genomic Library | Software | Genome, Human | Microfluidics - methods | Sequence Analysis, DNA - methods | Contig Mapping - methods
Journal Article
The Journal of pediatrics, ISSN 0022-3476, 2014, Volume 164, Issue 5, pp. 1121 - 1127.e1
Journal Article
Genome research, ISSN 1088-9051, 04/2018, Volume 28, Issue 4, pp. 606.1 - 606.1
Journal Article
BMC genomics, ISSN 1471-2164, 2016, Volume 17, Issue 1, p. 187
Journal Article
Cell (Cambridge), ISSN 0092-8674, 2018, Volume 172, Issue 5, pp. 897 - 909.e21
X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative disease that is endemic to the Philippines and is associated with a founder haplotype. We... 
DYT3 | XDP | dystonia | transcriptome assembly | retrotransposon | Parkinson’s disease | genome assembly | intron retention | SVA | TAF1 | Parkinson's disease | II ELONGATION RATE | STEM-CELLS | HUMAN-DISEASE | RNA | BIOCHEMISTRY & MOLECULAR BIOLOGY | INTRON RETENTION | GENE-EXPRESSION | INTERFERENCE | SEQUENCING DATA | VARIATION DISCOVERY | CELL BIOLOGY | TATA-Binding Protein Associated Factors - metabolism | Humans | Histone Acetyltransferases - genetics | Nerve Degeneration - genetics | Male | Genetic Loci | Transcription Factor TFIID - metabolism | RNA, Messenger - metabolism | Transcription Factor TFIID - genetics | Haplotypes - genetics | Short Interspersed Nucleotide Elements | Base Sequence | Histone Acetyltransferases - metabolism | Minisatellite Repeats - genetics | Female | Genetic Diseases, X-Linked - genetics | Neurons - metabolism | Alu Elements - genetics | Induced Pluripotent Stem Cells - metabolism | Dystonic Disorders - genetics | Introns - genetics | Alternative Splicing - genetics | RNA, Messenger - genetics | Transcriptome - genetics | TATA-Binding Protein Associated Factors - genetics | CRISPR-Cas Systems - genetics | Nerve Degeneration - pathology | Family | High-Throughput Nucleotide Sequencing | Models, Genetic | Genome, Human | Neural Stem Cells - metabolism | Cohort Studies | Nervous system diseases | Analysis | Genomics | Genetic research | Genetic aspects | Dystonia
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2010, Volume 42, Issue 2, pp. 101 - 106
Normal-appearing white matter has been shown via diffusion tensor imaging to be affected in tuberous sclerosis complex. Under the hypothesis that some systems... 
Pediatrics | Neurology | COMPLEX | HUMAN BRAIN | AUTISM | CORTEX | TRACKING | PEDIATRICS | MATURATION | CLINICAL NEUROLOGY | Diffusion Tensor Imaging - methods | Tuberous Sclerosis - pathology | Young Adult | Nerve Fibers, Myelinated - pathology | Humans | Adolescent | Child, Preschool | Adult | Infant | Child
Journal Article
BMC pediatrics, ISSN 1471-2431, 2013, Volume 13, Issue 1, p. 25
Journal Article
Journal Article
Pediatric neurology, ISSN 0887-8994, 2/2013, Volume 48, Issue 2, pp. 105 - 110
The cerebellum plays an important role in motor learning and cognition, and structural cerebellar abnormalities have been associated with cognitive impairment.... 
Journal Article