Detalhe da pesquisa
1.
Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.
Am J Hum Genet
; 108(4): 535-548, 2021 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33798442
2.
Gene-specific features enhance interpretation of mutational impact on acid α-glucosidase enzyme activity.
Hum Mutat
; 40(9): 1507-1518, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31228295
3.
VIPdb, a genetic Variant Impact Predictor Database.
Hum Mutat
; 40(9): 1202-1214, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31283070
4.
Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay.
Hum Mutat
; 40(9): 1280-1291, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31106481
5.
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
Hum Mutat
; 40(9): 1373-1391, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31322791
6.
Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.
N Engl J Med
; 375(22): 2165-2176, 2016 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27959755
7.
Even with nonnative interactions, the updated folding transition states of the homologs Proteins G & L are extensive and similar.
Proc Natl Acad Sci U S A
; 112(27): 8302-7, 2015 Jul 07.
Artigo
Inglês
| MEDLINE | ID: mdl-26100906
8.
Lessons from the CAGI-4 Hopkins clinical panel challenge.
Hum Mutat
; 38(9): 1155-1168, 2017 09.
Artigo
Inglês
| MEDLINE | ID: mdl-28397312
9.
De novo prediction of protein folding pathways and structure using the principle of sequential stabilization.
Proc Natl Acad Sci U S A
; 109(43): 17442-7, 2012 Oct 23.
Artigo
Inglês
| MEDLINE | ID: mdl-23045636
10.
Simplified protein models: predicting folding pathways and structure using amino acid sequences.
Phys Rev Lett
; 111(2): 028103, 2013 Jul 12.
Artigo
Inglês
| MEDLINE | ID: mdl-23889448
11.
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden.
Genome Med
; 15(1): 51, 2023 Jul 13.
Artigo
Inglês
| MEDLINE | ID: mdl-37443081
12.
The landscape of tolerated genetic variation in humans and primates.
Science
; 380(6648): eabn8153, 2023 06 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37262156
13.
The landscape of tolerated genetic variation in humans and primates.
bioRxiv
; 2023 May 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37205491
14.
The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health.
Front Pediatr
; 9: 663752, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34350142
15.
Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.
Int J Neonatal Screen
; 6(2)2020 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-32802992
16.
The role of exome sequencing in newborn screening for inborn errors of metabolism.
Nat Med
; 26(9): 1392-1397, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32778825
17.
Aromatic claw: A new fold with high aromatic content that evades structural prediction.
Protein Sci
; 26(2): 208-217, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27750371
18.
Modeling large regions in proteins: applications to loops, termini, and folding.
Protein Sci
; 21(1): 107-21, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22095743
19.
The folding transition state of protein L is extensive with nonnative interactions (and not small and polarized).
J Mol Biol
; 420(3): 220-34, 2012 Jul 13.
Artigo
Inglês
| MEDLINE | ID: mdl-22522126
20.
Heterogeneous dynamics and dynamic heterogeneities at the glass transition probed with single molecule spectroscopy.
J Chem Phys
; 127(11): 114508, 2007 Sep 21.
Artigo
Inglês
| MEDLINE | ID: mdl-17887858