Detalhe da pesquisa
1.
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Hum Mol Genet
; 32(15): 2441-2454, 2023 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37133451
2.
Neuromuscular disorders: finding the missing genetic diagnoses.
Trends Genet
; 38(9): 956-971, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35908999
3.
Mitochondrial DNA variation across 56,434 individuals in gnomAD.
Genome Res
; 32(3): 569-582, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35074858
4.
MitoVisualize: a resource for analysis of variants in human mitochondrial RNAs and DNA.
Bioinformatics
; 38(10): 2967-2969, 2022 05 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35561159
5.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Genet Med
; 24(4): 784-797, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148959
6.
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
7.
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.
Hum Mutat
; 40(7): 893-898, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30981218
8.
Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases.
Genet Med
; 21(11): 2512-2520, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31105274
9.
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Brain
; 140(6): 1595-1610, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28549128
10.
TRAK2, a novel regulator of ABCA1 expression, cholesterol efflux and HDL biogenesis.
Eur Heart J
; 38(48): 3579-3587, 2017 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28655204
11.
Leigh syndrome: One disorder, more than 75 monogenic causes.
Ann Neurol
; 79(2): 190-203, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26506407
12.
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
13.
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases.
J Neuromuscul Dis
; 10(3): 381-387, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37005889
14.
Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF).
bioRxiv
; 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873263
15.
Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality.
Nat Commun
; 14(1): 6113, 2023 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37777527
16.
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Med
; 2(1): 49-73, 2021 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33575671
17.
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Ann Clin Transl Neurol
; 6(3): 515-524, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30911575
18.
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.
JIMD Rep
; 32: 117-124, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27344648
19.
Leigh syndrome: neuropathology and pathogenesis.
J Neuropathol Exp Neurol
; 74(6): 482-92, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25978847