Citation Impact
Citing Papers
Lamin A/C–mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy
2009
Prevalence of the Congenital Long-QT Syndrome
2009
Simultaneous prediction of protein folding and docking at high resolution
2009 StandoutNobel
Non-muscle myosin II takes centre stage in cell adhesion and migration
2009 Standout
Cell mechanics and the cytoskeleton
2010 StandoutNature
Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients
2006
Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome
2003 StandoutNature
The Human Obesity Gene Map: The 2005 Update
2006
Primary myopathies and the heart
2008
The human keratins: biology and pathology
2008 Standout
The muscular dystrophies
2002 Standout
Genetic Linkage Analysis in the Presence of Germline Mosaicism
2011
Structural Insight into KCNQ (Kv7) Channel Assembly and Channelopathy
2007
Laminopathies: Multiple disorders arising from defects in nuclear architecture
2006
A Structural Requirement for Processing the Cardiac K+ Channel KCNQ1
2004
The genetic basis of long QT and short QT syndromes: A mutation update
2009
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study
2011 Standout
The very small-conductance K+ channel KVLQT1 and epithelial function
2000
Prevalence of Muscular Dystrophies: A Systematic Literature Review
2014 Standout
Lipodystrophy Syndromes
2008
Muscular dystrophies
2013
Coiled Coils Direct Assembly of a Cold-Activated TRP Channel
2006 StandoutNobel
A systematic review of population based epidemiological studies in Myasthenia Gravis
2010 Standout
Expression of the myodystrophic R453W mutation of lamin A in C2C12 myoblasts causes promoter-specific and global epigenetic defects
2008
Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)
2009
Dynamics and functions of lipid droplets
2018 Standout
In vitro pharmacologic testing using human induced pluripotent stem cell-derived cardiomyocytes
2009 StandoutNobel
Prospects forde novophasing withde novoprotein models
2009 StandoutNobel
Non-invasive testing of acquired long QT syndrome Evidence for multiple arrhythmogenic substrates
2001
Intermediate Filament Proteins and Their Associated Diseases
2004
Acquired and Inherited Lipodystrophies
2004
Influence of <formula formulatype="inline"><tex Notation="TeX">${I_{Ks}}$</tex></formula> Heterogeneities on the Genesis of the T-wave: A Computational Evaluation
2011
Laminopathies and the long strange trip from basic cell biology to therapy
2009
The Human Obesity Gene Map: The 2003 Update
2004
A Novel Rule-Based Algorithm for Assigning Myocardial Fiber Orientation to Computational Heart Models
2012 Standout
Impact of Informing Overweight Individuals about the Role of Genetics in Obesity: An Online Experimental Study
2013 Standout
Epigenetic modifications and human disease
2010 Standout
Wavelet transforms and the ECG: a review
2005 Standout
The long QT syndromes: genetic basis and clinical implications
2000
Assessing the proarrhythmic potential of drugs: Current status of models and surrogate parameters of torsades de pointes arrhythmias
2006
Nesprins: intracellular scaffolds that maintain cell architecture and coordinate cell function?
2005
A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly
2000
Genetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities
2013 Standout
The Human Obesity Gene Map: The 2004 Update
2005
The effects of cardioactive drugs on cardiomyocytes derived from human induced pluripotent stem cells
2009 StandoutNobel
Pathophysiology of Human Visceral Obesity: An Update
2013 Standout
Obesity and Cardiovascular Disease: Pathophysiology, Evaluation, and Effect of Weight Loss
2005 Standout
The muscular dystrophies
2012
Histone variant macroH2A confers resistance to nuclear reprogramming
2011 StandoutNobel
A promiscuous biotin ligase fusion protein identifies proximal and interacting proteins in mammalian cells
2012 Standout
2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death
2015 Standout
Recent Stem Cell Advances: Induced Pluripotent Stem Cells for Disease Modeling and Stem Cell–Based Regeneration
2010 StandoutNobel
Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture
2011 StandoutNobel
Spectrum of Mutations in Long-QT Syndrome Genes
2000
The Nuclear Envelope and Human Disease
2004
cAMP-mediated regulation of murine intestinal/pancreatic Na+/HCO 3 − cotransporter subtype pNBC1
2003 StandoutNobel
The Metabolic Syndrome
2008 Standout
Insulin Resistance and the Polycystic Ovary Syndrome Revisited: An Update on Mechanisms and Implications
2012 Standout
featureCounts: an efficient general purpose program for assigning sequence reads to genomic features
2013 Standout
Works of L. Demay being referenced
Extreme Variability of Phenotype in Patients With an Identical Missense Mutation in the Lamin A/C Gene
2004
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy
2008
Genetics of Laminopathies
2005
Heart involvement in lamin A/C related diseases.
2006
Genomic Organization of the KCNQ1 K + Channel Gene and Identification of C-Terminal Mutations in the Long-QT Syndrome
1999
C-terminal HERG Mutations
1999
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy
2002
Notched T Waves on Holter Recordings Enhance Detection of Patients With LQT2 ( HERG ) Mutations
2001