Detalhe da pesquisa
1.
A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1.
Nature
; 577(7788): 109-114, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31827280
2.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Am J Hum Genet
; 109(9): 1692-1712, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36055214
3.
Myopathy and Ophthalmologic Abnormalities in Association With Multiple Skeletal Muscle Mitochondrial DNA Deletions.
J Neuroophthalmol
; 2023 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37665646
4.
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
Hum Mutat
; 43(12): 1837-1843, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35870179
5.
Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy.
Hum Mutat
; 42(2): 177-188, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33259687
6.
Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.
Genet Med
; 23(8): 1514-1521, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33846581
7.
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
Clin Genet
; 100(4): 412-429, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34216016
8.
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
Hum Mutat
; 41(12): 2028-2057, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906214
9.
Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes.
Hum Mol Genet
; 27(21): 3710-3719, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30085106
10.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Am J Hum Genet
; 101(2): 239-254, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777931
11.
MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.
Hum Mutat
; 39(6): 806-810, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29539190
12.
Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.
Ann Neurol
; 79(3): 379-86, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26642834
13.
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
Neurogenetics
; 17(3): 173-8, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27094857
14.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Am J Hum Genet
; 102(4): 713, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29625026
15.
Clinical application of whole-exome sequencing across clinical indications.
Genet Med
; 18(7): 696-704, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26633542
16.
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
Am J Med Genet A
; 170(7): 1791-8, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27133397
17.
Comment on the criteria for interpretation of mitochondrial tRNA variants.
Genet Med
; 22(8): 1418-1419, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32418987
18.
Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.
Mol Genet Metab
; 114(3): 388-96, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25542617
19.
First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants.
Clin Genet
; 97(5): 793-794, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32133637
20.
Phenotypic continuum of NFU1-related disorders.
Ann Clin Transl Neurol
; 9(12): 2025-2035, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36256512