Detalhe da pesquisa
1.
Evaluation of C4 Gene Copy Number in Pediatric Acute Neuropsychiatric Syndrome.
Dev Neurosci;
45(6): 315-324, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37379808
2.
Integrated functional genomic analyses of Klinefelter and Turner syndromes reveal global network effects of altered X chromosome dosage.
Proc Natl Acad Sci U S A;
117(9): 4864-4873, 2020 03 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32071206
3.
Comprehensive, integrated, and phased whole-genome analysis of the primary ENCODE cell line K562.
Genome Res;
29(3): 472-484, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30737237
4.
Haplotype-resolved and integrated genome analysis of the cancer cell line HepG2.
Nucleic Acids Res;
47(8): 3846-3861, 2019 05 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30864654
5.
One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin.
Genome Res;
27(4): 512-523, 2017 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28235832
6.
Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis.
J Med Genet;
55(11): 735-743, 2018 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30061371
7.
Hyperexcitable arousal circuits drive sleep instability during aging.
Science;
375(6583): eabh3021, 2022 02 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35201886
8.
Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability.
Science;
377(6605): 511-517, 2022 07 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35901164
9.
Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons.
Biol Psychiatry;
89(5): 497-509, 2021 03 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32919612
10.
Increased activation product of complement 4 protein in plasma of individuals with schizophrenia.
Transl Psychiatry;
11(1): 486, 2021 09 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34552056
11.
Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia.
Nat Neurosci;
24(2): 186-196, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33432196
12.
Comprehensive identification of somatic nucleotide variants in human brain tissue.
Genome Biol;
22(1): 92, 2021 03 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33781308
13.
Extensive and deep sequencing of the Venter/HuRef genome for developing and benchmarking genome analysis tools.
Sci Data;
5: 180261, 2018 12 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30561434
14.
Detection and Quantification of Mosaic Genomic DNA Variation in Primary Somatic Tissues Using ddPCR: Analysis of Mosaic Transposable-Element Insertions, Copy-Number Variants, and Single-Nucleotide Variants.
Methods Mol Biol;
1768: 173-190, 2018.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29717444
15.
1q21.1 microduplication: large verbal-nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number.
NPJ Genom Med;
3: 24, 2018.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30155272
16.
Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis.
Science;
359(6375): 550-555, 2018 02 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29217587
17.
Author Correction: Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia.
Nat Neurosci;
26(10): 1833, 2023 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37648813
18.
Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15.
Hum Mutat;
27(1): 44-54, 2006 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16278823
19.
Associations of allelic variants of the multidrug resistance gene (ABCB1 or MDR1) and inflammatory bowel disease and their effects on disease behavior: a case-control and meta-analysis study.
Inflamm Bowel Dis;
12(4): 263-71, 2006 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16633048
20.
Investigation of association of the DLG5 gene with phenotypes of inflammatory bowel disease in the British population.
Int J Colorectal Dis;
22(4): 419-24, 2007 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16944184