Detalhe da pesquisa
1.
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
Hum Mol Genet
; 32(1): 46-54, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35913761
2.
Maintenance of cellular vitamin B6 levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis protein.
J Biol Chem
; 299(9): 105047, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37451483
3.
Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?
Genet Med
; 26(2): 101033, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38007624
4.
Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada.
Genet Med
; 26(4): 101069, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38205742
5.
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Genet Med
; 26(6): 101104, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411040
6.
Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen.
Mol Genet Metab
; 142(1): 108347, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38401382
7.
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
J Med Genet
; 60(11): 1092-1104, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37316189
8.
A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).
Graefes Arch Clin Exp Ophthalmol
; 2024 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38847892
9.
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
BMC Pediatr
; 24(1): 37, 2024 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38216926
10.
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Am J Hum Genet
; 106(2): 143-152, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32032513
11.
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Genet Med
; 25(1): 125-134, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36350326
12.
Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects.
Mol Genet Metab
; 139(1): 107582, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37087816
13.
Viral, Bacterial, Metabolic, and Autoimmune Causes of Severe Acute Encephalopathy in Sub-Saharan Africa: A Multicenter Cohort Study.
J Pediatr
; 258: 113360, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36828342
14.
Exploring genotype-phenotype correlations in glutaric aciduria type 1.
J Inherit Metab Dis
; 46(3): 371-390, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37020324
15.
Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.
J Inherit Metab Dis
; 46(5): 956-971, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37340906
16.
MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.
J Inherit Metab Dis
; 46(2): 313-325, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651519
17.
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Brain
; 145(7): 2602-2616, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35104841
18.
Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
Brain
; 145(1): 45-63, 2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34849584
19.
Hospital-to-home transitions for children with medical complexity: part 2-a core outcome set.
Eur J Pediatr
; 182(9): 3833-3843, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37338690
20.
Hospital-to-home transitions for children with medical complexity: part 1, a systematic review of reported outcomes.
Eur J Pediatr
; 182(9): 3805-3831, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37318656