Detalhe da pesquisa
1.
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
Hum Mutat
; 43(6): 708-716, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35192731
2.
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.
Hum Mutat
; 42(4): 378-384, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33502047
3.
Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.
J Pediatr
; 228: 240-251.e2, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32827528
4.
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
J Hum Genet
; 66(10): 995-1008, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875766
5.
Loqusdb: added value of an observations database of local genomic variation.
BMC Bioinformatics
; 21(1): 273, 2020 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32611382
6.
Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study.
Epilepsia
; 61(11): 2486-2499, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32964447
7.
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Am J Hum Genet
; 99(3): 735-743, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545679
8.
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
Am J Hum Genet
; 97(5): 761-8, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26522469
9.
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
J Med Genet
; 52(11): 779-83, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26084283
10.
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.
BMC Genomics
; 15: 1090, 2014 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-25495354
11.
Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.
Mol Genet Genomic Med
; 11(7): e2167, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36967109
12.
Comparison of total and cytoplasmic mRNA reveals global regulation by nuclear retention and miRNAs.
BMC Genomics
; 13: 574, 2012 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-23110385
13.
Classification of DNA sequences using Bloom filters.
Bioinformatics
; 26(13): 1595-600, 2010 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20472541
14.
Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy.
Neurol Genet
; 7(2): e566, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33732874
15.
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Genome Med
; 13(1): 40, 2021 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33726816
16.
SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia.
Neurol Genet
; 6(4): e478, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32754646
17.
A comparison between protein profiles of B cell subpopulations and mantle cell lymphoma cells.
Proteome Sci
; 7: 43, 2009 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-19930641
18.
SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation.
Stem Cell Reports
; 12(4): 696-711, 2019 04 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827875
19.
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Genome Med
; 11(1): 68, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31694722
20.
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.
Orphanet J Rare Dis
; 12(1): 73, 2017 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28427446