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
Inglês
| MEDLINE | ID: mdl-34793697
2.
CRaTER enrichment for on-target gene editing enables generation of variant libraries in hiPSCs.
J Mol Cell Cardiol
; 179: 60-71, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37019277
3.
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
Am J Hum Genet
; 104(1): 76-93, 2019 01 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30609409
4.
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.
Genet Med
; 21(3): 622-630, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30209271
5.
The BabySeq project: implementing genomic sequencing in newborns.
BMC Pediatr
; 18(1): 225, 2018 07 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29986673
6.
Robertsonian translocations modify genomic distribution of γH2AFX and H3.3 in mouse germ cells.
Mamm Genome
; 27(5-6): 225-36, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27090237
7.
Defining and Reducing Variant Classification Disparities.
medRxiv
; 2024 Apr 12.
Artigo
Inglês
| MEDLINE | ID: mdl-38645101
8.
Multiplexed Functional Assessments of MYH7 Variants in Human Cardiomyocytes.
Circ Genom Precis Med
; 17(2): e004377, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38362799
9.
Assigning credit where it's due: An information content score to capture the clinical value of Multiplexed Assays of Variant Effect.
bioRxiv
; 2023 Oct 20.
Artigo
Inglês
| MEDLINE | ID: mdl-37905042
10.
CRaTER enrichment for on-target gene-editing enables generation of variant libraries in hiPSCs.
bioRxiv
; 2023 Jan 26.
Artigo
Inglês
| MEDLINE | ID: mdl-36747685
11.
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023.
Eur J Hum Genet
; 32(5): 593-600, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38433264
12.
Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report.
Cold Spring Harb Mol Case Stud
; 4(4)2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29728376
13.
Dynamics of response to asynapsis and meiotic silencing in spermatocytes from Robertsonian translocation carriers.
PLoS One
; 8(9): e75970, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-24066189