Detalhe da pesquisa
1.
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Cell
; 149(3): 525-37, 2012 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-22521361
2.
Mapping and characterization of structural variation in 17,795 human genomes.
Nature
; 583(7814): 83-89, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32460305
3.
Author Correction: Exome sequencing of Finnish isolates enhances rare-variant association power.
Nature
; 575(7783): E4, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31686056
4.
Exome sequencing of Finnish isolates enhances rare-variant association power.
Nature
; 572(7769): 323-328, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31367044
5.
Association of structural variation with cardiometabolic traits in Finns.
Am J Hum Genet
; 108(4): 583-596, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33798444
6.
Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes.
Genome Res
; 31(12): 2249-2257, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34544830
7.
The impact of rare variation on gene expression across tissues.
Nature
; 550(7675): 239-243, 2017 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29022581
8.
Mutations in DCHS1 cause mitral valve prolapse.
Nature
; 525(7567): 109-13, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26258302
9.
svtools: population-scale analysis of structural variation.
Bioinformatics
; 35(22): 4782-4787, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31218349
10.
The genome of the vervet (Chlorocebus aethiops sabaeus).
Genome Res
; 25(12): 1921-33, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26377836
11.
SpeedSeq: ultra-fast personal genome analysis and interpretation.
Nat Methods
; 12(10): 966-8, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26258291
12.
Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
Am J Med Genet A
; 173(2): 395-406, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27759917
13.
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.
Am J Hum Genet
; 92(3): 375-86, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23472757
14.
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Am J Hum Genet
; 92(2): 210-20, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23332918
15.
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.
Am J Hum Genet
; 91(6): 1128-34, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23217328
16.
Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.
Am J Hum Genet
; 88(4): 469-81, 2011 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21473983
17.
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Am J Hum Genet
; 89(4): 551-63, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21981781
18.
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.
Hum Genet
; 132(5): 537-52, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23354975
19.
Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate stabilizing selection.
medRxiv
; 2023 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38106023
20.
Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate stabilizing selection.
Res Sq
; 2023 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168385