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Pseudoexon activation in disease by non‐splice site deep intronic sequence variation — wild type pseudoexons constitute high‐risk sites in the human genome

Human mutation, 2022-02, Vol.43 (2), p.103-127

2022

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Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans

Nature (London), 2017-01, Vol.541 (7635), p.102-106

2017

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All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing

Nucleic acids research, 2024-05, Vol.52 (8), p.4588-4603

2024

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Proteomics analysis of melanoma metastases: association between S100A13 expression and chemotherapy resistance

British journal of cancer, 2014-05, Vol.110 (10), p.2489-2495

2014

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Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site

PLoS genetics, 2018-04, Vol.14 (4), p.e1007360-e1007360

2018

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descriptive epidemiology of accelerometer-measured physical activity in older adults

The international journal of behavioral nutrition and physical activity, 2016-01, Vol.13 (1), p.2-2, Article 2

2016

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Global identification of hnRNP A1 binding sites for SSO-based splicing modulation

BMC biology, 2016-07, Vol.14 (1), p.54-54, Article 54

2016

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VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria

Molecular genetics and metabolism, 2016-08, Vol.118 (4), p.282-287

2016

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Reliability and validity of the combined heart rate and movement sensor Actiheart

European journal of clinical nutrition, 2005-04, Vol.59 (4), p.561-570

2005

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Essential role of CK2α for the interaction and stability of replication fork factors during DNA synthesis and activation of the S-phase checkpoint

Cellular and molecular life sciences : CMLS, 2022-06, Vol.79 (6), p.339-339, Article 339

2022

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Adiposity and grip strength as long-term predictors of objectively measured physical activity in 93 015 adults: the UK Biobank study

International Journal of Obesity, 2017-09, Vol.41 (9), p.1361-1368

2017

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A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

Scientific reports, 2019-01, Vol.9 (1), p.645-645, Article 645

2019

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Independent associations of physical activity and cardiorespiratory fitness with metabolic risk factors in children: the European youth heart study

Diabetologia, 2007-09, Vol.50 (9), p.1832-1840

2007

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Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers

Human mutation, 2022-02, Vol.43 (2), p.253-265

2022

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The descriptive epidemiology of the diurnal profile of bouts and breaks in sedentary time in older English adults

International journal of epidemiology, 2017-12, Vol.46 (6), p.1871-1881

2017

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Molecular subtype and tumor characteristics of breast cancer metastases as assessed by gene expression significantly influence patient post-relapse survival

Annals of oncology, 2015-01, Vol.26 (1), p.81-88

2015

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Cardiorespiratory fitness levels and associations with physical activity and body composition in young South African adults from Soweto

BMC public health, 2017-04, Vol.17 (1), p.301-301, Article 301

2017

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Effect of glucocorticoids for the management of immune-related adverse events on outcome in melanoma patients treated with immunotherapy—a retrospective and biomarker study

Immuno-oncology technology, 2024-06, Vol.22, p.100713, Article 100713

2024

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Rate of weight gain predicts change in physical activity levels: a longitudinal analysis of the EPIC-Norfolk cohort

International Journal of Obesity, 2013-03, Vol.37 (3), p.404-409

2013

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A systematic review of methods to measure family co‐participation in physical activity

Obesity reviews, 2017-12, Vol.18 (12), p.1454-1472

2017

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Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing

Frontiers in genetics, 2022-10, Vol.13, p.969895-969895

2022

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Criterion validity of the Physical Activity Scale (PAS2) in Danish adults

Scandinavian journal of public health, 2018-11, Vol.46 (7), p.726-734

2018

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Efficient well placement optimization under uncertainty using a virtual drilling procedure

Computational geosciences, 2022-08, Vol.26 (4), p.739-756

2022

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An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Molecular genetics and metabolism, 2017-12, Vol.122 (4), p.182-188

2017

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Splice-Switching Antisense Oligonucleotides Correct Phenylalanine Hydroxylase Exon 11 Skipping Defects and Rescue Enzyme Activity in Phenylketonuria

Nucleic acid therapeutics, 2024-06, Vol.34 (3), p.134-142

2024

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Pseudoexon activation in disease by non‐splice site deep intronic sequence variation — wild type pseudoexons constitute high‐risk sites in the human genome

Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans

All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing

Proteomics analysis of melanoma metastases: association between S100A13 expression and chemotherapy resistance

Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site

descriptive epidemiology of accelerometer-measured physical activity in older adults

Global identification of hnRNP A1 binding sites for SSO-based splicing modulation

VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria

Reliability and validity of the combined heart rate and movement sensor Actiheart

Essential role of CK2α for the interaction and stability of replication fork factors during DNA synthesis and activation of the S-phase checkpoint

Adiposity and grip strength as long-term predictors of objectively measured physical activity in 93 015 adults: the UK Biobank study

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

Independent associations of physical activity and cardiorespiratory fitness with metabolic risk factors in children: the European youth heart study

Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers

The descriptive epidemiology of the diurnal profile of bouts and breaks in sedentary time in older English adults

Molecular subtype and tumor characteristics of breast cancer metastases as assessed by gene expression significantly influence patient post-relapse survival

Cardiorespiratory fitness levels and associations with physical activity and body composition in young South African adults from Soweto

Effect of glucocorticoids for the management of immune-related adverse events on outcome in melanoma patients treated with immunotherapy—a retrospective and biomarker study

Rate of weight gain predicts change in physical activity levels: a longitudinal analysis of the EPIC-Norfolk cohort

A systematic review of methods to measure family co‐participation in physical activity

Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing

Criterion validity of the Physical Activity Scale (PAS2) in Danish adults

Efficient well placement optimization under uncertainty using a virtual drilling procedure

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Splice-Switching Antisense Oligonucleotides Correct Phenylalanine Hydroxylase Exon 11 Skipping Defects and Rescue Enzyme Activity in Phenylketonuria

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