Detalhe da pesquisa
1.
Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping.
Am J Hum Genet
; 108(8): 1423-1435, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34237281
2.
Optical genome mapping enables constitutional chromosomal aberration detection.
Am J Hum Genet
; 108(8): 1409-1422, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34237280
3.
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.
Hum Mol Genet
; 29(12): 2022-2034, 2020 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32246154
4.
Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing.
Mol Psychiatry
; 25(9): 2047-2057, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30116028
5.
Transposons passively and actively contribute to evolution of the two-speed genome of a fungal pathogen.
Genome Res
; 26(8): 1091-100, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27325116
6.
Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration.
Ophthalmology
; 125(7): 1064-1074, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29398083
7.
Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane.
Ophthalmology
; 125(9): 1433-1443, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706360
8.
Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.
Clin Genet
; 94(6): 569-574, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30215852
9.
Long-read trio sequencing of individuals with unsolved intellectual disability.
Eur J Hum Genet
; 29(4): 637-648, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33257779
10.
DNA methylation associated with persistent ADHD suggests TARBP1 as novel candidate.
Neuropharmacology
; 184: 108370, 2021 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33137342
11.
Genome-wide association study reveals novel genetic locus associated with intra-individual variability in response time.
Transl Psychiatry
; 8(1): 207, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287865
12.
A case-control genome-wide association study of ADHD discovers a novel association with the tenascin R (TNR) gene.
Transl Psychiatry
; 8(1): 284, 2018 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30563984
13.
Association of Genetic Variants With Response to Anti-Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration.
JAMA Ophthalmol
; 136(8): 875-884, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29852030
14.
The Functional Effect of Rare Variants in Complement Genes on C3b Degradation in Patients With Age-Related Macular Degeneration.
JAMA Ophthalmol
; 135(1): 39-46, 2017 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27918759
15.
Correction: Long-read trio sequencing of individuals with unsolved intellectual disability.
Eur J Hum Genet
; 29(4): 720, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33772160