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Repeat instability as the basis for human diseases and as a potential target for therapy

Nature reviews. Molecular cell biology, 2010-03, Vol.11 (3), p.165

2010

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Single cell transcriptomics reveals opioid usage evokes widespread suppression of antiviral gene program

Nature communications, 2020-05, Vol.11 (1), p.2611-10, Article 2611

2020

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Repeat instability: mechanisms of dynamic mutations

Nature reviews. Genetics, 2005-10, Vol.6 (10), p.729-742

2005

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Tumor-suppressor genes that escape from X-inactivation contribute to cancer sex bias

Nature genetics, 2017-01, Vol.49 (1), p.10-16

2017

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Impeding Transcription of Expanded Microsatellite Repeats by Deactivated Cas9

Molecular cell, 2017-11, Vol.68 (3), p.479-490.e5

2017

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Effect of Candida glabrata FKS1 and FKS2 Mutations on Echinocandin Sensitivity and Kinetics of 1,3-β-d-Glucan Synthase: Implication for the Existing Susceptibility Breakpoint

Antimicrobial Agents and Chemotherapy, 2009-09, Vol.53 (9), p.3690-3699

2009

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Repeat-associated non-ATG (RAN) translation in neurological disease

Human molecular genetics, 2013-10, Vol.22 (R1), p.R45-R51

2013

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A Review of Microfluidic Detection Strategies for Heavy Metals in Water

Chemosensors, 2021-04, Vol.9 (4), p.60

2021

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RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2

Neuron (Cambridge, Mass.), 2017-09, Vol.95 (6), p.1292-1305.e5

2017

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Intron retention induced by microsatellite expansions as a disease biomarker

Proceedings of the National Academy of Sciences - PNAS, 2018-04, Vol.115 (16), p.4234-4239

2018

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Global Lithium Sources—Industrial Use and Future in the Electric Vehicle Industry: A Review

Resources (Basel), 2018-09, Vol.7 (3), p.57

2018

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Non-contact heart rate monitoring utilizing camera photoplethysmography in the neonatal intensive care unit — A pilot study

Early human development, 2013-12, Vol.89 (12), p.943-948

2013

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Arsenic Monitoring in Water by Colorimetry Using an Optimized Leucomalachite Green Method

Molecules (Basel, Switzerland), 2019-01, Vol.24 (2), p.339

2019

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The alternative initiation factor eIF2A plays key role in RAN translation of myotonic dystrophy type 2 CCUG•CAGG repeats

Human molecular genetics, 2021-05, Vol.30 (11), p.1020-1029

2021

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Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Nature genetics, 2015-01, Vol.47 (1), p.73-77

2015

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Therapeutic strategies for C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia

Current opinion in neurology, 2021-10, Vol.34 (5), p.748

2021

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Mitigating RNA Toxicity in Myotonic Dystrophy using Small Molecules

International journal of molecular sciences, 2019-08, Vol.20 (16), p.4017

2019

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Alternative Splicing Outcomes Across an RNA-Binding Protein Concentration Gradient

Journal of molecular biology, 2023-08, Vol.435 (15), p.168156-168156, Article 168156

2023

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Repeat-associated non-ATG (RAN) translation

The Journal of biological chemistry, 2018-10, Vol.293 (42), p.16127-16141

2018

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A CTG repeat-selective chemical screen identifies microtubule inhibitors as selective modulators of toxic CUG RNA levels

Proceedings of the National Academy of Sciences - PNAS, 2019-10, Vol.116 (42), p.20991-21000

2019

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Antifungal-Associated Drug-Induced Cardiac Disease

Clinical infectious diseases, 2015-12, Vol.61 (suppl_6), p.S662-S668

2015

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All in the Family: Repeats and ALS/FTD

Trends in neurosciences (Regular ed.), 2018-05, Vol.41 (5), p.247-250

2018

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Therapeutic Genome Editing for Myotonic Dystrophy Type 1 Using CRISPR/Cas9

Molecular therapy, 2018-11, Vol.26 (11), p.2617-2630

2018

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Widespread alternative splicing dysregulation occurs presymptomatically in CAG expansion spinocerebellar ataxias

Brain (London, England : 1878), 2024-02, Vol.147 (2), p.486-504

2024

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Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing

Nature biotechnology, 2012-01, Vol.30 (1), p.61-68

2012

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Repeat instability as the basis for human diseases and as a potential target for therapy

Single cell transcriptomics reveals opioid usage evokes widespread suppression of antiviral gene program

Repeat instability: mechanisms of dynamic mutations

Tumor-suppressor genes that escape from X-inactivation contribute to cancer sex bias

Impeding Transcription of Expanded Microsatellite Repeats by Deactivated Cas9

Effect of Candida glabrata FKS1 and FKS2 Mutations on Echinocandin Sensitivity and Kinetics of 1,3-β-d-Glucan Synthase: Implication for the Existing Susceptibility Breakpoint

Repeat-associated non-ATG (RAN) translation in neurological disease

A Review of Microfluidic Detection Strategies for Heavy Metals in Water

RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2

Intron retention induced by microsatellite expansions as a disease biomarker

Global Lithium Sources—Industrial Use and Future in the Electric Vehicle Industry: A Review

Non-contact heart rate monitoring utilizing camera photoplethysmography in the neonatal intensive care unit — A pilot study

Arsenic Monitoring in Water by Colorimetry Using an Optimized Leucomalachite Green Method

The alternative initiation factor eIF2A plays key role in RAN translation of myotonic dystrophy type 2 CCUG•CAGG repeats

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Therapeutic strategies for C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia

Mitigating RNA Toxicity in Myotonic Dystrophy using Small Molecules

Alternative Splicing Outcomes Across an RNA-Binding Protein Concentration Gradient

Repeat-associated non-ATG (RAN) translation

A CTG repeat-selective chemical screen identifies microtubule inhibitors as selective modulators of toxic CUG RNA levels

Antifungal-Associated Drug-Induced Cardiac Disease

All in the Family: Repeats and ALS/FTD

Therapeutic Genome Editing for Myotonic Dystrophy Type 1 Using CRISPR/Cas9

Widespread alternative splicing dysregulation occurs presymptomatically in CAG expansion spinocerebellar ataxias

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing

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