Detalhe da pesquisa
1.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet
; 110(6): 963-978, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37196654
2.
Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors.
Am J Med Genet A
; 194(3): e63461, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37953071
3.
Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.
BMC Neurol
; 24(1): 87, 2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38438854
4.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
5.
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Ann Neurol
; 92(2): 304-321, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35471564
6.
Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency.
Am J Med Genet A
; 191(5): 1366-1372, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36751706
7.
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Brain
; 145(3): 909-924, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34605855
8.
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.
Mol Genet Metab
; 136(2): 101-110, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35637064
9.
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.
Am J Med Genet A
; 188(1): 259-268, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34510712
10.
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
Mol Genet Metab
; 131(1-2): 147-154, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32828637
11.
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.
Am J Med Genet A
; 182(11): 2781-2787, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32909658
12.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(4): 107647, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453860
13.
Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.
Brain
; 145(5): e36-e40, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35231119
14.
Reanalysis of Clinical Exome Sequencing Data.
N Engl J Med
; 380(25): 2478-2480, 2019 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31216405
15.
Clinical Untargeted Metabolomics as a Functional Screen to Improve Variant Classification.
Curr Protoc
; 3(4): e720, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37036266
16.
Rare target enrichment for ultrasensitive PCR detection using cot-rehybridization and duplex-specific nuclease.
Anal Biochem
; 421(1): 81-5, 2012 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22155054
17.
Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.
JAMA Netw Open
; 4(7): e2114155, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34251446
18.
Detection and typing of viruses using broadly sensitive cocktail-PCR and mass spectrometric cataloging: demonstration with dengue virus.
J Mol Diagn
; 14(4): 402-7, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22579629
19.
PCR detection of nearly any dengue virus strain using a highly sensitive primer 'cocktail'.
FEBS J
; 278(10): 1676-87, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21410643