Search details
1.
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Am J Hum Genet
; 111(4): 729-741, 2024 Apr 04.
Article
in English
| MEDLINE | ID: mdl-38579670
2.
Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics.
Bioinformatics
; 39(11)2023 11 01.
Article
in English
| MEDLINE | ID: mdl-37930895
3.
Diagnostic delay in monogenic disease: A scoping review.
Genet Med
; 26(4): 101074, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38243783
4.
Data from electronic healthcare records expand our understanding of X-linked genetic diseases.
Am J Med Genet A
; 194(5): e63527, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38229216
5.
Probable digenic inheritance of Diamond-Blackfan anemia.
Am J Med Genet A
; 194(3): e63454, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-37897121
6.
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.
Am J Med Genet A
; 194(7): e63597, 2024 Jul.
Article
in English
| MEDLINE | ID: mdl-38511854
7.
Phenotypic presentation of Mendelian disease across the diagnostic trajectory in electronic health records.
Genet Med
; 25(10): 100921, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37337966
8.
A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.
Am J Med Genet A
; 191(12): 2873-2877, 2023 12.
Article
in English
| MEDLINE | ID: mdl-37622199
9.
The contribution of mosaicism to genetic diseases and de novo pathogenic variants.
Am J Med Genet A
; 191(10): 2482-2492, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37246601
10.
Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis.
Mol Genet Metab
; 135(4): 342-349, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35216885
11.
Early reattenders to the paediatric emergency department: A prospective cohort study and multivariate analysis.
J Paediatr Child Health
; 58(9): 1616-1622, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35726728
12.
Intraoperative Vasopressor Usage in Free Tissue Transfer: Should We Be Worried?
J Reconstr Microsurg
; 38(1): 75-83, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34229352
13.
Norovirus strains in patients with acute gastroenteritis in rural and low-income urban areas in northern Brazil.
Arch Virol
; 166(3): 905-913, 2021 Mar.
Article
in English
| MEDLINE | ID: mdl-33462673
14.
Viral gastroenteritis in Tocantins, Brazil: characterizing the diversity of human adenovirus F through next-generation sequencing and bioinformatics.
J Gen Virol
; 101(12): 1280-1288, 2020 12.
Article
in English
| MEDLINE | ID: mdl-33044150
15.
Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder.
Am J Med Genet A
; 2020 Oct 08.
Article
in English
| MEDLINE | ID: mdl-33090716
16.
Phenotypic convergence: a novel phenomenon in the diagnostic process of Mendelian genetic disorders.
medRxiv
; 2023 Jan 18.
Article
in English
| MEDLINE | ID: mdl-36711865
17.
A novel, likely pathogenic variant in UBTF-related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype.
Mol Genet Genomic Med
; 10(12): e2054, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36106513
18.
Current and Emerging Clinical Treatment in Mitochondrial Disease.
Mol Diagn Ther
; 25(2): 181-206, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33646563
19.
Predictors of mortality and disability in stroke-associated pneumonia.
Acta Neurol Belg
; 121(2): 379-385, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-31037709
20.
Genomic Analyses of Potential Novel Recombinant Human Adenovirus C in Brazil.
Viruses
; 12(5)2020 05 04.
Article
in English
| MEDLINE | ID: mdl-32375411