What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH)

Molecular and Cellular Probes

Volumn 29, Issue 5, 2015, Pages 271-281

  Morris Rosendahl, Deborah J ^a,b   Kaindl, Angela M ^c  

^a ROYAL BROMPTON AND HAREFIELD NHS FOUNDATION TRUST   (United Kingdom)

^b NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Centrosomes; Cilia; Gene identification; Neurogenesis; Next generation sequencing; Primary microcephaly; Primordial dwarfism

Indexed keywords

CASC5 PROTEIN; CELL PROTEIN; CENTROMERE PROTEIN E; CENTROMERE PROTEIN F; CEP63 PROTEIN; CYCLIN DEPENDENT KINASE 6; PHC1 PROTEIN; POLO LIKE KINASE 4; TUBGPC PROTEIN; UNCLASSIFIED DRUG; WDR62 PROTEIN; ZNF335 PROTEIN;

AUTOSOMAL RECESSIVE INHERITANCE; BRAIN GROWTH; BRAIN SIZE; CENTRIOLE; CENTROSOME; CHROMATIN ASSEMBLY AND DISASSEMBLY; CLINICAL FEATURE; DNA DAMAGE; DNA REPAIR; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MICROCEPHALY; MITOSIS SPINDLE; NEXT GENERATION SEQUENCING; PHENOTYPIC VARIATION; PRIORITY JOURNAL; REVIEW; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PROCEDURES;

GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MICROCEPHALY; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 84946488433     PISSN: 08908508     EISSN: 10961194     Source Type: Journal    
DOI: 10.1016/j.mcp.2015.05.015     Document Type: Review

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