What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH)
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology
Reference128 articles.
1. Exome sequencing identifies the cause of a mendelian disorder;Ng;Nat. Genet.,2010
2. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders;Soden;Sci. Transl. Med.,2014
3. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families;Alazami;Cell. Rep.,2015
4. Congenital microcephaly;Alcantara;Am. J. Med. Genet. C Semin. Med. Genet.,2014
5. Many roads lead to primary autosomal recessive microcephaly;Kaindl;Prog. Neurobiol.,2010
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