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Author Details

Karen S Ho
2013
19
12
PMIDPaper TitleJournal TitlePublished Year
37396808Efficacy and safety of CNM-Au8 in amyotrophic lateral sclerosis (RESCUE-ALS study): a phase 2, randomised, double-blind, placebo-controlled trial and open label extension.2023
36368308Genomic architecture of autism from comprehensive whole-genome sequence annotation.Cell2022
33431491Study protocol of RESCUE-ALS: A Phase 2, andomised, double-blind, placebo-controlled study in arly ymptomatic amyotrophic lateral sclerosis patients to assess bioenergetic atalysis with CNM-A8 as a mechanism to slow diseas progression.BMJ Open2021
32041968Nanocatalytic activity of clean-surfaced, faceted nanocrystalline gold enhances remyelination in animal models of multiple sclerosis.Scientific Reports2020
31769173International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.Am J Med Genet A2020
29729439Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders.European Journal of Medical Genetics2019
32042908Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders.Neurol Genet2019
29685812The CF Canada-Sick Kids Program in individual CF therapy: A resource for the advancement of personalized medicine in CF.J Cyst Fibros2019
29477837A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf-Hirschhorn syndrome.Epilepsy and Behavior2018
29395074OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.Am J Hum Genet2018
28102593A case for cannabidiol in Wolf-Hirschhorn syndrome seizure management.American Journal of Medical Genetics, Part A2017
28357155Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions.PLoS Curr2017
28087693<i>De Novo</i> Genome and Transcriptome Assembly of the Canadian Beaver (<i>Castor canadensis</i>).G3 (Bethesda)2017
28263302Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.Nat Neurosci2017
27975050Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.BioMed Research International2016
26747863Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.J Med Genet2016
27941670Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.International Journal of Molecular Sciences2016
24467814Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.Mol Autism2014
23341896Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.PLoS One2013
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Stephen W Scherer
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Christophe G Lambert
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Sarah T South
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Mark F Leppert
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Michael J Szego
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