Search details
1.
Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes.
Brain
; 146(11): 4608-4621, 2023 11 02.
Article
in English
| MEDLINE | ID: mdl-37394881
2.
Delineation of functionally essential protein regions for 242 neurodevelopmental genes.
Brain
; 146(2): 519-533, 2023 02 13.
Article
in English
| MEDLINE | ID: mdl-36256779
3.
Identification of pathogenic variant enriched regions across genes and gene families.
Genome Res
; 30(1): 62-71, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31871067
4.
Characterization of intrinsically disordered regions in proteins informed by human genetic diversity.
PLoS Comput Biol
; 18(3): e1009911, 2022 03.
Article
in English
| MEDLINE | ID: mdl-35275927
5.
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants.
Proc Natl Acad Sci U S A
; 117(45): 28201-28211, 2020 11 10.
Article
in English
| MEDLINE | ID: mdl-33106425
6.
Circuit topology predicts pathogenicity of missense mutations.
Proteins
; 90(9): 1634-1644, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35394672
7.
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Am J Hum Genet
; 105(3): 509-525, 2019 09 05.
Article
in English
| MEDLINE | ID: mdl-31422817
8.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genet Med
; 24(3): 681-693, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34906499
9.
Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
Ann Neurol
; 89(3): 573-586, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33325057
10.
MISCAST: MIssense variant to protein StruCture Analysis web SuiTe.
Nucleic Acids Res
; 48(W1): W132-W139, 2020 07 02.
Article
in English
| MEDLINE | ID: mdl-32402084
11.
Variant Score Ranker-a web application for intuitive missense variant prioritization.
Bioinformatics
; 35(21): 4478-4479, 2019 11 01.
Article
in English
| MEDLINE | ID: mdl-31086968
12.
PBRpredict-Suite: a suite of models to predict peptide-recognition domain residues from protein sequence.
Bioinformatics
; 34(19): 3289-3299, 2018 10 01.
Article
in English
| MEDLINE | ID: mdl-29726965
13.
RBSURFpred: Modeling protein accessible surface area in real and binary space using regularized and optimized regression.
J Theor Biol
; 441: 44-57, 2018 03 14.
Article
in English
| MEDLINE | ID: mdl-29305182
14.
Discriminate protein decoys from native by using a scoring function based on ubiquitous Phi and Psi angles computed for all atom.
J Theor Biol
; 398: 112-21, 2016 06 07.
Article
in English
| MEDLINE | ID: mdl-27029514
15.
A balanced secondary structure predictor.
J Theor Biol
; 389: 60-71, 2016 Jan 21.
Article
in English
| MEDLINE | ID: mdl-26549467
16.
Improved prediction of accessible surface area results in efficient energy function application.
J Theor Biol
; 380: 380-91, 2015 Sep 07.
Article
in English
| MEDLINE | ID: mdl-26092374
17.
Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders.
Sci Rep
; 14(1): 2798, 2024 02 02.
Article
in English
| MEDLINE | ID: mdl-38307912
18.
Genomics 2 Proteins portal: A resource and discovery tool for linking genetic screening outputs to protein sequences and structures.
bioRxiv
; 2024 Jan 02.
Article
in English
| MEDLINE | ID: mdl-38260256
19.
Activating point mutations in the MET kinase domain represent a unique molecular subset of lung cancer and other malignancies targetable with MET inhibitors.
Cancer Discov
; 2024 Apr 03.
Article
in English
| MEDLINE | ID: mdl-38564707
20.
Predictors of protein losing enteropathy after Fontan completion: An 8-year retrospective study at Sheikh Khalifa Medical City.
Glob Cardiol Sci Pract
; 2023(3): e202317, 2023 Aug 01.
Article
in English
| MEDLINE | ID: mdl-37575289