Search details
1.
Polygenic Risk Scores Validated in Patient-Derived Cells Stratify for Mitochondrial Subtypes of Parkinson's Disease.
Ann Neurol
; 2024 May 20.
Article
in English
| MEDLINE | ID: mdl-38767023
2.
binny: an automated binning algorithm to recover high-quality genomes from complex metagenomic datasets.
Brief Bioinform
; 23(6)2022 11 19.
Article
in English
| MEDLINE | ID: mdl-36239393
3.
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.
Bioinformatics
; 39(5)2023 05 04.
Article
in English
| MEDLINE | ID: mdl-37104749
4.
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.
Epilepsia
; 65(3): 779-791, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38088023
5.
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
6.
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes.
Brain
; 146(3): 923-934, 2023 03 01.
Article
in English
| MEDLINE | ID: mdl-36036558
7.
Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.
Brain
; 146(7): 2753-2765, 2023 07 03.
Article
in English
| MEDLINE | ID: mdl-36478228
8.
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Brain
; 146(12): 5198-5208, 2023 12 01.
Article
in English
| MEDLINE | ID: mdl-37647852
9.
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
10.
Comparison of two protocols for the generation of iPSC-derived human astrocytes.
Biol Proced Online
; 25(1): 26, 2023 Sep 20.
Article
in English
| MEDLINE | ID: mdl-37730545
11.
Functional meta-omics provide critical insights into long- and short-read assemblies.
Brief Bioinform
; 22(6)2021 11 05.
Article
in English
| MEDLINE | ID: mdl-34453168
12.
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers.
Mov Disord
; 38(4): 604-615, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36788297
13.
Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state.
Brain
; 145(3): 964-978, 2022 04 29.
Article
in English
| MEDLINE | ID: mdl-34919646
14.
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
15.
Benchmarking of univariate pleiotropy detection methods applied to epilepsy.
Hum Mutat
; 43(9): 1314-1332, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35620985
16.
Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family history.
Genet Med
; 24(3): 576-585, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34906469
17.
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study.
Mov Disord
; 37(4): 857-864, 2022 04.
Article
in English
| MEDLINE | ID: mdl-34997937
18.
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited.
Mov Disord
; 37(9): 1929-1937, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35810454
19.
Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.
Epilepsia
; 63(3): 723-735, 2022 03.
Article
in English
| MEDLINE | ID: mdl-35032048
20.
Auditory cortex modelled as a dynamical network of oscillators: understanding event-related fields and their adaptation.
Biol Cybern
; 116(4): 475-499, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35718809