Detalhe da pesquisa
1.
De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency.
iScience;
27(6): 109984, 2024 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38868186
2.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Hum Genomics;
18(1): 44, 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38685113
3.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Am J Hum Genet;
111(5): 863-876, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565148
4.
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Ann Clin Transl Neurol;
11(3): 629-640, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38311799
5.
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets.
medRxiv;
2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38405995
6.
Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.
medRxiv;
2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38293186
7.
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
medRxiv;
2023 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873196
8.
Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency.
medRxiv;
2023 Aug 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37662408
9.
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Am J Hum Genet;
110(9): 1454-1469, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37595579
10.
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
medRxiv;
2023 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37577678
11.
Phenotype and genetic analysis of data collected within the first year of NeuroDev.
Neuron;
111(18): 2800-2810.e5, 2023 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37463579
12.
DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia.
J Pediatr Neurol;
21(6): 475-478, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38481935
13.
Publisher Correction: Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Nat Commun;
13(1): 5767, 2022 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36180445
14.
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Nat Commun;
13(1): 5106, 2022 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36042188
15.
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
Genet Med;
24(8): 1732-1742, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35507016
16.
JAK inhibition in a patient with a STAT1 gain-of-function variant reveals STAT1 dysregulation as a common feature of aplastic anemia.
Med;
3(1): 42-57.e5, 2022 01 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35590143
17.
Best practices for the interpretation and reporting of clinical whole genome sequencing.
NPJ Genom Med;
7(1): 27, 2022 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395838
18.
Monogenic and Polygenic Contributions to QTc Prolongation in the Population.
Circulation;
145(20): 1524-1533, 2022 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35389749
19.
seqr: A web-based analysis and collaboration tool for rare disease genomics.
Hum Mutat;
43(6): 698-707, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266241
20.
Harmonizing variant classification for return of results in the All of Us Research Program.
Hum Mutat;
43(8): 1114-1121, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34923710