Detalhe da pesquisa
1.
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Am J Hum Genet;
2024 May 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38776926
2.
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Nature;
586(7831): 757-762, 2020 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33057194
3.
Predicting the impact of rare variants on RNA splicing in CAGI6.
Hum Genet;
2024 Jan 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38170232
4.
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
J Med Genet;
59(8): 737-747, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34716235
5.
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
J Med Genet;
59(12): 1151-1164, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35764379
6.
Pathogenicity and selective constraint on variation near splice sites.
Genome Res;
29(2): 159-170, 2019 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30587507
7.
Fetal central nervous system anomalies: When should we offer exome sequencing?
Prenat Diagn;
42(6): 736-743, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35411553
8.
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.
Hum Genet;
140(4): 593-607, 2021 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33095315
9.
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genet Med;
23(7): 1315-1324, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33864021
10.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lancet;
393(10173): 747-757, 2019 02 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30712880
11.
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Genet Med;
22(6): 1005-1014, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32123317
12.
Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Genet Med;
22(6): 1129, 2020 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32235935
13.
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.
Nature;
505(7484): 550-554, 2014 Jan 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24336208
14.
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Genet Med;
21(5): 1065-1073, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30293990
15.
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.
Genet Med;
20(10): 1216-1223, 2018 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29323667
16.
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genet Med;
23(7): 1376-1377, 2021 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34040196
17.
Markers of adipose tissue fibrogenesis associate with clinically significant liver fibrosis and are unchanged by synbiotic treatment in patients with NAFLD.
Metabolism;
151: 155759, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38101770
18.
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
medRxiv;
2024 Apr 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38645094
19.
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
medRxiv;
2023 Sep 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37745552
20.
CI-SpliceAI-Improving machine learning predictions of disease causing splicing variants using curated alternative splice sites.
PLoS One;
17(6): e0269159, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35657932