Detalhe da pesquisa
1.
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.
Genet Med
; 26(4): 101068, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38193396
2.
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Clin Genet
; 103(3): 288-300, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36353900
3.
Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report.
Am J Med Genet A
; 191(7): 1923-1928, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37024942
4.
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
J Inherit Metab Dis
; 46(2): 232-242, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36515074
5.
Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers-Danlos syndrome.
Am J Med Genet A
; 188(5): 1376-1383, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35128800
6.
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
J Med Genet
; 52(8): 541-7, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-26041762
7.
A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration.
Neurogenetics
; 16(3): 215-221, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25894286
8.
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Eur J Hum Genet
; 2024 Apr 27.
Artigo
Inglês
| MEDLINE | ID: mdl-38678163
9.
Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy.
medRxiv
; 2023 Jan 31.
Artigo
Inglês
| MEDLINE | ID: mdl-36778397
10.
Hereditary orotic aciduria identified by newborn screening.
Front Genet
; 14: 1135267, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36999056
11.
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.
HGG Adv
; 4(4): 100236, 2023 Oct 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37660254
12.
A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial-temporal regulation of histone arginine methylation in neurodevelopment.
Genome Biol
; 24(1): 216, 2023 09 29.
Artigo
Inglês
| MEDLINE | ID: mdl-37773136
13.
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
Eur J Hum Genet
; 31(8): 905-917, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37188825
14.
Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin?
Orphanet J Rare Dis
; 14(1): 156, 2019 06 27.
Artigo
Inglês
| MEDLINE | ID: mdl-31248428
15.
Primary ciliary dyskinesia: mechanisms and management.
Appl Clin Genet
; 10: 67-74, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29033599
16.
Severe phenotype of X-linked dominant chondrodysplasia punctata.
Clin Case Rep
; 5(9): 1435-1437, 2017 09.
Artigo
Inglês
| MEDLINE | ID: mdl-28878897
17.
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions.
Front Genet
; 5: 397, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25452764