Detalhe da pesquisa
1.
An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Cell
; 168(5): 830-842.e7, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28235197
2.
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
Cell
; 157(3): 636-50, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24766809
3.
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Am J Hum Genet
; 97(5): 691-707, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26544804
4.
SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data.
BMC Bioinformatics
; 18(1): 147, 2017 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28253855
5.
Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.
Am J Hum Genet
; 94(3): 462-9, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24530202
6.
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
Am J Hum Genet
; 93(2): 197-210, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23810381
7.
Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions.
Genet Med
; 17(4): 262-70, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25474345
8.
Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.
Am J Med Genet A
; 164A(2): 500-4, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24311450
9.
Chromosomal microarray analysis, or comparative genomic hybridization: A high throughput approach.
MethodsX
; 3: 8-18, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26862485
10.
ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.
Invest Ophthalmol Vis Sci
; 56(6): 3889-95, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26070061