Detalhe da pesquisa
1.
Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes.
Nature
; 611(7934): 105-114, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36198798
2.
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Brain
; 146(12): 5098-5109, 2023 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37516995
3.
Multisystem pathology in McLeod syndrome.
Neuropathology
; 44(2): 109-114, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-37438874
4.
Mitochondrial Diseases: A Diagnostic Revolution.
Trends Genet
; 36(9): 702-717, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32674947
5.
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Brain
; 145(4): 1507-1518, 2022 05 24.
Artigo
Inglês
| MEDLINE | ID: mdl-34791078
6.
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly.
J Med Genet
; 59(4): 358-365, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33820834
7.
MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.
Nucleic Acids Res
; 49(17): 9686-9695, 2021 09 27.
Artigo
Inglês
| MEDLINE | ID: mdl-34428295
8.
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Ann Neurol
; 85(2): 170-180, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30549301
9.
Clinical implications of germline mutations in breast cancer: TP53.
Breast Cancer Res Treat
; 167(2): 417-423, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29039119
10.
Whole-genome sequencing for mitochondrial disorders identifies unexpected mimics.
Pract Neurol
; 23(1): 2-3, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36253087
11.
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.
Neurogenetics
; 18(1): 49-55, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28063088
12.
Evidence for sodium valproate toxicity in mitochondrial diseases: a systematic analysis.
BMJ Neurol Open
; 6(1): e000650, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38860231
13.
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.
J Neuromuscul Dis
; 2024 May 13.
Artigo
Inglês
| MEDLINE | ID: mdl-38759022
14.
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
medRxiv
; 2024 May 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38854136
15.
Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.
Front Neurol
; 14: 1292320, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-38107630
16.
An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.
bioRxiv
; 2023 Aug 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37609196
17.
Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts.
Cancer Med
; 12(13): 14663-14673, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37264737
18.
An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank.
Nat Genet
; 53(7): 982-993, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34002094
19.
White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-Telangiectasia.
Neurol Genet
; 7(6): e640, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34859152
20.
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1).
Eur J Hum Genet
; 29(9): 1348-1353, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34075209