Detalhe da pesquisa
1.
Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain.
Cell
; 151(3): 483-96, 2012 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-23101622
2.
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.
Genome Res
; 27(8): 1323-1335, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28630177
3.
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.
Am J Hum Genet
; 96(5): 709-19, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25865492
4.
Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort.
Am J Med Genet A
; 152A(11): 2736-42, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20949537
5.
Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain.
Cell Rep
; 8(5): 1280-9, 2014 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-25159146
6.
Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain.
Cell Rep
; 10(4): 645, 2015 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25832109