Detalhe da pesquisa
1.
A cross-disorder dosage sensitivity map of the human genome.
Cell
; 185(16): 3041-3055.e25, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35917817
2.
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models.
Am J Hum Genet
; 109(11): 2049-2067, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36283406
3.
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
Am J Hum Genet
; 109(10): 1789-1813, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36152629
4.
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
Am J Hum Genet
; 111(3): 619, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38458168
5.
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.
Am J Med Genet A
; 182(1): 189-194, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31633297
6.
Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region.
Genome Res
; 26(11): 1453-1467, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27803192
7.
Transmission disequilibrium of small CNVs in simplex autism.
Am J Hum Genet
; 93(4): 595-606, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24035194
8.
Evolution and diversity of copy number variation in the great ape lineage.
Genome Res
; 23(9): 1373-82, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23825009
9.
Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos.
J Allergy Clin Immunol
; 135(6): 1502-10, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25488688
10.
Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries.
Cell Rep Methods
; 4(1): 100672, 2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38091988
11.
Chromatin alternates between A and B compartments at kilobase scale for subgenic organization.
Nat Commun
; 14(1): 3303, 2023 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37280210
12.
Excess of rare, inherited truncating mutations in autism.
Nat Genet
; 47(6): 582-8, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25961944
13.
Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma.
PLoS One
; 9(8): e104396, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25116239