Detalhe da pesquisa
1.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Am J Hum Genet
; 111(5): 863-876, 2024 May 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38565148
2.
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.
Am J Hum Genet
; 110(9): 1496-1508, 2023 09 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37633279
3.
Transcript expression-aware annotation improves rare variant interpretation.
Nature
; 581(7809): 452-458, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32461655
4.
The mutational constraint spectrum quantified from variation in 141,456 humans.
Nature
; 581(7809): 434-443, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32461654
5.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Hum Genomics
; 18(1): 44, 2024 Apr 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38685113
6.
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Genet Med
; 25(4): 100352, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36473599
7.
Variant interpretation using population databases: Lessons from gnomAD.
Hum Mutat
; 43(8): 1012-1030, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34859531
8.
Author Correction: Transcript expression-aware annotation improves rare variant interpretation.
Nature
; 590(7846): E54, 2021 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-33536626
9.
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.
Nature
; 597(7874): E3-E4, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34373650
10.
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.
Nature
; 590(7846): E53, 2021 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-33536625
11.
A missense mutation in damage-specific DNA binding protein 2 is a genetic risk factor for limbal squamous cell carcinoma in horses.
Int J Cancer
; 141(2): 342-353, 2017 07 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28425625
12.
Inferring compound heterozygosity from large-scale exome sequencing data.
Nat Genet
; 56(1): 152-161, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-38057443
13.
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
medRxiv
; 2024 Mar 26.
Artigo
Inglês
| MEDLINE | ID: mdl-38585811
14.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
HGG Adv
; 5(2): 100273, 2024 Apr 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38297832
15.
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data.
medRxiv
; 2023 Mar 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36945502
16.
Inferring compound heterozygosity from large-scale exome sequencing data.
bioRxiv
; 2023 Aug 21.
Artigo
Inglês
| MEDLINE | ID: mdl-36993580
17.
Phenotype and genetic analysis of data collected within the first year of NeuroDev.
Neuron
; 111(18): 2800-2810.e5, 2023 09 20.
Artigo
Inglês
| MEDLINE | ID: mdl-37463579
18.
The landscape of tolerated genetic variation in humans and primates.
Science
; 380(6648): eabn8153, 2023 06 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37262156
19.
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
medRxiv
; 2023 Aug 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37577678
20.
The landscape of tolerated genetic variation in humans and primates.
bioRxiv
; 2023 May 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37205491