Detalhe da pesquisa
1.
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.
Am J Hum Genet
; 108(12): 2248-2258, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34793697
2.
Clinical Validation of a Novel T-Cell Receptor Sequencing Assay for Identification of Recent or Prior Severe Acute Respiratory Syndrome Coronavirus 2 Infection.
Clin Infect Dis
; 75(12): 2079-2087, 2022 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35521791
3.
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Am J Hum Genet
; 104(2): 213-228, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639323
4.
Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".
Genet Med
; 22(5): 825-830, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31911673
5.
The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.
J Pediatr
; 226: 202-212.e1, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32553838
6.
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Genet Med
; 21(8): 1899, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30327536
7.
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Genet Med
; 21(3): 601-607, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245509
8.
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.
Am J Med Genet A
; 179(9): 1783-1790, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31294511
9.
Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy.
Am J Med Genet A
; 176(12): 2733-2739, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30513141
10.
Multimodal, broadly neutralizing antibodies against SARS-CoV-2 identified by high-throughput native pairing of BCRs from bulk B cells.
Cell Chem Biol
; 30(11): 1377-1389.e8, 2023 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586370
11.
A large-scale database of T-cell receptor beta (TCRß) sequences and binding associations from natural and synthetic exposure to SARS-CoV-2.
Res Sq
; 2020 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32793896
12.
Magnitude and Dynamics of the T-Cell Response to SARS-CoV-2 Infection at Both Individual and Population Levels.
medRxiv
; 2020 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32793919
13.
Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation.
Genome Med
; 11(1): 85, 2019 12 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31862013
14.
A Paradigm Shift: Considerations in Prenatal Cell-Free DNA Screening.
J Appl Lab Med
; 2(5): 784-796, 2018 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33636864
15.
Multiplex assessment of protein variant abundance by massively parallel sequencing.
Nat Genet
; 50(6): 874-882, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29785012
16.
Using Make for Reproducible and Parallel Neuroimaging Workflow and Quality-Assurance.
Front Neuroinform
; 10: 2, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26869916