Detalhe da pesquisa
1.
Molecular and cellular basis of genetically inherited skeletal muscle disorders.
Nat Rev Mol Cell Biol
; 22(11): 713-732, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34257452
2.
Selective control of parasitic nematodes using bioactivated nematicides.
Nature
; 618(7963): 102-109, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37225985
3.
Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy.
Hum Mol Genet
; 2024 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38493359
4.
Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy.
Hum Mol Genet
; 33(3): 254-269, 2024 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37930228
5.
Trio RNA sequencing in a cohort of medically complex children.
Am J Hum Genet
; 110(5): 895-900, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36990084
6.
Methylenetetrahydrofolate reductase deficiency and high-dose FA supplementation disrupt embryonic development of energy balance and metabolic homeostasis in zebrafish.
Hum Mol Genet
; 32(9): 1575-1588, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36637428
7.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 601-617, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395208
8.
Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy.
Hum Mol Genet
; 31(5): 733-747, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34568901
9.
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Genet Med
; 26(2): 101012, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924259
10.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain
; 146(6): 2285-2297, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36477332
11.
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.
Genet Med
; 25(8): 100863, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37125634
12.
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
em Inglês
| MEDLINE | ID: mdl-36353900
13.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Am J Hum Genet
; 104(3): 466-483, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827497
14.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet
; 104(6): 1210-1222, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079897
15.
X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition.
Acta Neuropathol
; 144(3): 537-563, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35844027
16.
Insights into wild-type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish.
Hum Mol Genet
; 28(24): 4186-4196, 2019 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31691805
17.
Mouse model of severe recessive RYR1-related myopathy.
Hum Mol Genet
; 28(18): 3024-3036, 2019 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31107960
18.
Genetic therapy for congenital myopathies.
Curr Opin Neurol
; 34(5): 727-737, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34267051
19.
Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease Caused by TTC7A Deficiency.
Gastroenterology
; 158(4): 1000-1015, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31743734
20.
Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations.
Can J Neurol Sci
; 48(4): 504-511, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33059774