Citation Impact
Citing Papers
PIEZO ion channel is required for root mechanotransduction in Arabidopsis thaliana
2021 StandoutNobel
The Ensembl Variant Effect Predictor
2016 Standout
Myasthenia Gravis
2016 Standout
Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways
2014
Nrf2-Keap1 signaling in oxidative and reductive stress
2018 Standout
The muscular dystrophies
2002 Standout
Prevalence of Muscular Dystrophies: A Systematic Literature Review
2014 Standout
Biological roles of glycans
2016 Standout
Structural Designs and Mechanogating Mechanisms of the Mechanosensitive Piezo Channels
2021
Fibrosis development in early-onset muscular dystrophies: Mechanisms and translational implications
2016
Molecular Mechanisms of Stress-Responsive Changes in Collagen and Elastin Networks in Skin
2016 Standout
Congenital disorders of glycosylation: Still “hot” in 2020
2020
Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity
2008
The Collagen Family
2010 Standout
Single-cell analysis uncovers fibroblast heterogeneity and criteria for fibroblast and mural cell identification and discrimination
2020
Remodelling the extracellular matrix in development and disease
2014 Standout
Myasthenia gravis
2019 Standout
Choice of transcripts and software has a large effect on variant annotation
2014
The evolving tumor microenvironment: From cancer initiation to metastatic outgrowth
2023 Standout
Myasthenia gravis and the neuromuscular junction
2013
Therapy of Collagen VI-Related Myopathies (Bethlem and Ullrich)
2008
Protein Sequence Editing of SKN-1A/Nrf1 by Peptide:N-Glycanase Controls Proteasome Gene Expression
2019 StandoutNobel
Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations
2009
Myasthenia gravis: subgroup classification and therapeutic strategies
2015 Standout
Wound repair and regeneration: Mechanisms, signaling, and translation
2014 Standout
Glycoproteomics
2022 StandoutNobel
The 2021 WHO Classification of Tumors of the Central Nervous System: a summary
2021 Standout
The muscular dystrophies
2012
Review of molecular classification and treatment implications of pediatric brain tumors
2017
Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type: Update and perspectives
2015
CBTRUS Statistical Report: Primary Brain and Other Central Nervous System Tumors Diagnosed in the United States in 2014–2018
2021 Standout
CBTRUS Statistical Report: Primary Brain and Other Central Nervous System Tumors Diagnosed in the United States in 2012–2016
2019 Standout
Congenital Disorders of Glycosylation from a Neurological Perspective
2021
Therapeutic strategies for congenital myasthenic syndromes
2018
Psychiatric and psychological aspects in the Ehlers–Danlos syndromes
2017 Standout
Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan
2007
Neurological Aspects of Human Glycosylation Disorders
2015
Natural history of Ullrich congenital muscular dystrophy
2009
The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes
2018
Biomarkers in tumors of the central nervous system – a review
2019
Congenital disorders of glycosylation: new defects and still counting
2014
Works of Debbie Hicks being referenced
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance
2008
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue
2008
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy
2017
Collagen Type VI Myopathies
2013
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy
2013
Novel molecular subgroups for clinical classification and outcome prediction in childhood medulloblastoma: a cohort study
2017
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice
2013
Congenital myasthenic syndromes due to mutations inALG2andALG14
2013
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations
2006
A refined diagnostic algorithm for Bethlem myopathy
2008