Detalhe da pesquisa
1.
STIGMA: Single-cell tissue-specific gene prioritization using machine learning.
Am J Hum Genet;
111(2): 338-349, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38228144
2.
Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset.
Brain;
146(3): 1075-1082, 2023 03 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35481544
3.
Comparative single-cell analysis of the adult heart and coronary vasculature.
Mamm Genome;
34(2): 276-284, 2023 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36401619
4.
STIGMA: Single-cell tissue-specific gene prioritization using machine learning.
Am J Hum Genet;
111(3): 618, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38458167
5.
Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon.
Int J Mol Sci;
23(4)2022 Feb 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35216353
6.
The importance of genetic testing for dystonia patients and translational research.
J Neural Transm (Vienna);
128(4): 473-481, 2021 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33876307
7.
A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.
Ann Neurol;
85(6): 812-822, 2019 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30973967
8.
DNA Methylation as a Potential Molecular Mechanism in X-linked Dystonia-Parkinsonism.
Mov Disord;
35(12): 2220-2229, 2020 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32914507
9.
Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.
PLoS Genet;
13(12): e1007137, 2017 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29261648
10.
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Hum Genet;
136(3): 307-320, 2017 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28120103
11.
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
Epilepsia;
58(4): 565-575, 2017 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28166369
12.
First Case of Parkinsonian-Pyramidal Syndrome Associated with a TBK1 Mutation.
Mov Disord;
36(2): 523-525, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33245169
13.
Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.
Hum Mutat;
36(1): 26-9, 2015 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25196272
14.
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Hum Mutat;
36(4): 454-62, 2015 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25655089
15.
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Hum Genet;
134(6): 553-68, 2015 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25724810
16.
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
Nat Genet;
56(6): 1080-1089, 2024 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38684900
17.
Single-Cell Sequencing in Neurodegenerative Disorders.
Mol Diagn Ther;
27(5): 553-561, 2023 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37552451
18.
Factors influencing reduced penetrance and variable expressivity in X-linked dystonia-parkinsonism.
Med Genet;
34(2): 97-102, 2022 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38835911
19.
Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing.
Genes (Basel);
13(1)2022 01 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35052466
20.
X-linked dystonia-parkinsonism: over and above a repeat disorder.
Med Genet;
33(4): 319-324, 2021 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38835428