Detalhe da pesquisa
1.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Am J Hum Genet
; 108(11): 2130-2144, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34653363
2.
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Am J Hum Genet
; 108(11): 2195-2204, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34715011
3.
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Epilepsia
; 65(4): 1029-1045, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38135915
4.
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence.
J Med Genet
; 59(12): 1227-1233, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36041817
5.
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Brain
; 144(9): 2659-2669, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415322
6.
DLG4-related synaptopathy: a new rare brain disorder.
Genet Med
; 23(5): 888-899, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597769
7.
A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.
Hum Mutat
; 41(2): 420-431, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31608518
8.
POLR3A variants with striatal involvement and extrapyramidal movement disorder.
Neurogenetics
; 21(2): 121-133, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31940116
9.
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
Clin Genet
; 98(1): 91-98, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32335897
10.
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
Acta Neuropathol
; 140(6): 971-975, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33015733
11.
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children.
J Exp Med
; 221(2)2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38175961
12.
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.
J Clin Invest
; 133(14)2023 07 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37463447
13.
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Genome Med
; 15(1): 68, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37679823
14.
Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study.
EClinicalMedicine
; 50: 101515, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35770252
15.
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Neurology
; 98(9): e912-e923, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35012964
16.
A novel nonstop mutation in TYMP does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathy.
Hum Mutat
; 32(4): E2061-8, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21412940
17.
Epigenome-wide association study of COVID-19 severity with respiratory failure.
EBioMedicine
; 66: 103339, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33867313
18.
A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.
Ann Clin Transl Neurol
; 7(9): 1574-1579, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33245593