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Targeted genome editing in vivo corrects a Dmd duplication restoring wild‐type dystrophin expression.
- Published in:
- EMBO Molecular Medicine, 2021, v. 13, n. 5, p. 1, doi. 10.15252/emmm.202013228
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- Publication type:
- Article
Genome sequencing among children with medical complexity: What constitutes value from parents' perspective?
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- Journal of Genetic Counseling, 2022, v. 31, n. 2, p. 523, doi. 10.1002/jgc4.1522
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- Publication type:
- Article
Treating pediatric neuromuscular disorders: The future is now.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 804, doi. 10.1002/ajmg.a.38418
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- Publication type:
- Article
Saturation variant interpretation using CRISPR prime editing.
- Published in:
- Nature Biotechnology, 2022, v. 40, n. 6, p. 885, doi. 10.1038/s41587-021-01201-1
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- Publication type:
- Article
Corrigendum: Angiotensin II type 1 receptor blockade attenuates TGF-β–induced failure of muscle regeneration in multiple myopathic states.
- Published in:
- 2007
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- Publication type:
- Correction Notice
Angiotensin II type 1 receptor blockade attenuates TGF-β–induced failure of muscle regeneration in multiple myopathic states.
- Published in:
- Nature Medicine, 2007, v. 13, n. 2, p. 204, doi. 10.1038/nm1536
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- Publication type:
- Article
LARGE can functionally bypass a-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.
- Published in:
- Nature Medicine, 2004, v. 10, n. 7, p. 696, doi. 10.1038/nm1059
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- Publication type:
- Article
Genome sequencing as a diagnostic test.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Role of TGF-β signaling in inherited and acquired myopathies.
- Published in:
- Skeletal Muscle, 2011, v. 1, n. 1, p. 1, doi. 10.1186/2044-5040-1-19
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- Publication type:
- Article
Impaired Skeletal Muscle Regeneration in the Absence of Fibrosis during Hibernation in 13-Lined Ground Squirrels.
- Published in:
- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0048884
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- Publication type:
- Article
Professional opportunity for pharmacists to integrate pharmacogenomics in medication therapy.
- Published in:
- Canadian Pharmacists Journal, 2018, v. 151, n. 3, p. 167, doi. 10.1177/1715163518766376
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- Publication type:
- Article
Molecular basis of muscular dystrophies.
- Published in:
- 2000
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- Publication type:
- journal article
Genetic evaluation of the pediatric patient with hypotonia: perspective from a hypotonia specialty clinic and review of the literature.
- Published in:
- Developmental Medicine & Child Neurology, 2011, v. 53, n. 7, p. 586, doi. 10.1111/j.1469-8749.2011.03918.x
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- Publication type:
- Article
STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00196-7
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- Publication type:
- Article
Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.
- Published in:
- NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0021-8
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- Publication type:
- Article
Respiratory Failure Secondary to Human Metapneumovirus Requiring Extracorporeal Membrane Oxygenation in a 32-Month-Old Child.
- Published in:
- Case Reports in Pediatrics, 2012, p. 1, doi. 10.1155/2012/268074
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- Publication type:
- Article
Urgent call for guidance supporting gene-based drug dosing in children and adolescents.
- Published in:
- Paediatrics & Child Health (1205-7088), 2023, v. 28, n. 4, p. 205, doi. 10.1093/pch/pxad003
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- Publication type:
- Article
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
- Published in:
- JAMA Neurology, 2022, v. 79, n. 4, p. 405, doi. 10.1001/jamaneurol.2022.0067
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- Publication type:
- Article
The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free mice.
- Published in:
- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1183273
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- Publication type:
- Article
Genetic Testing and Primary Care.
- Published in:
- 2008
- By:
- Publication type:
- Letter
The Genetics Revolution and Primary Care Pediatrics.
- Published in:
- 2008
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- Publication type:
- Editorial
Clinically relevant copy number variations detected in cerebral palsy.
- Published in:
- Nature Communications, 2015, v. 6, n. 8, p. 7949, doi. 10.1038/ncomms8949
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- Publication type:
- Article
A Critical Role for Muscle Ring Finger-1 in Acute Lung Injury--associated Skeletal Muscle Wasting.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2012, v. 185, n. 8, p. 825, doi. 10.1164/rccm.201106-1150OC
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- Publication type:
- Article
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.
- Published in:
- Nature, 2002, v. 418, n. 6896, p. 417, doi. 10.1038/nature00837
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- Publication type:
- Article
Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.
- Published in:
- Nature, 2002, v. 418, n. 6896, p. 422, doi. 10.1038/nature00838
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- Publication type:
- Article
ERCC6L2-associated inherited bone marrow failure syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 3, p. 463, doi. 10.1002/mgg3.388
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- Publication type:
- Article
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 12, p. 2207, doi. 10.1093/hmg/ddx110
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- Publication type:
- Article
Losartan Restores Skeletal Muscle Remodeling and Protects Against Disuse Atrophy in Sarcopenia.
- Published in:
- Science Translational Medicine, 2011, v. 3, n. 82, p. 1, doi. 10.1126/scitranslmed.3002227
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- Publication type:
- Article
Editorial: Current Insights Into LAMA2 Disease.
- Published in:
- Frontiers in Molecular Neuroscience, 2021, v. 14, p. 1, doi. 10.3389/fnmol.2021.780635
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- Publication type:
- Article
An optimized toolkit for prime editing.
- Published in:
- Nature Biotechnology, 2024, v. 42, n. 2, p. 187, doi. 10.1038/s41587-023-02091-1
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- Publication type:
- Article
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.
- Published in:
- JAMA Network Open, 2020, v. 3, n. 9, p. e2018109, doi. 10.1001/jamanetworkopen.2020.18109
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- Publication type:
- Article
Maintaining skeletal muscle mass: lessons learned from hibernation.
- Published in:
- Experimental Physiology, 2014, v. 99, n. 4, p. 632, doi. 10.1113/expphysiol.2013.074344
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- Publication type:
- Article
Consensus Statement on Standard of Care for Congenital Muscular Dystrophies.
- Published in:
- Journal of Child Neurology, 2010, v. 25, n. 12, p. 1559, doi. 10.1177/0883073810381924
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- Publication type:
- Article
The Genome Clinic: A Multidisciplinary Approach to Assessing the Opportunities and Challenges of Integrating Genomic Analysis into Clinical Care.
- Published in:
- Human Mutation, 2014, v. 35, n. 5, p. 513, doi. 10.1002/humu.22536
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- Publication type:
- Article
SARS-CoV-2 antibodies in Ontario health care workers during and after the first wave of the pandemic: a cohort study.
- Published in:
- CMAJ Open, 2021, v. 9, n. 4, p. E929, doi. 10.9778/cmajo.20210044
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- Publication type:
- Article
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome
- Published in:
- BMC Genomics, 2015, v. 16, p. S12, doi. 10.1186/1471-2164-16-S1-S12
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- Publication type:
- Article
Outcome of Patients With Inherited Neurotransmitter Disorders.
- Published in:
- Canadian Journal of Neurological Sciences, 2018, v. 45, n. 5, p. 571, doi. 10.1017/cjn.2018.266
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- Publication type:
- Article