Citation Impact
Citing Papers
High burden and pervasive positive selection of somatic mutations in normal human skin
2015 StandoutScience
Hyperplasia and Carcinomas in Pten-Deficient Mice and Reduced PTEN Protein in Human Bladder Cancer Patients
2006 StandoutNobel
MiRP1 Forms IKr Potassium Channels with HERG and Is Associated with Cardiac Arrhythmia
1999 Standout
Origins and Divergence of the Roma (Gypsies)
2001 Standout
Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients
2006
Mouse models to study inner ear development and hereditary hearing loss
2007
The FGF family: biology, pathophysiology and therapy
2009 Standout
Mutational Analysis of the Shab-encoded Delayed Rectifier K+ Channels in Drosophila
1999
Many facets of the peripheral myelin protein PMP22 in myelination and disease
1998
Phenotypic clustering in MPZ mutations
2004
The genetic basis of long QT and short QT syndromes: A mutation update
2009
CaV1.2 Calcium Channel Dysfunction Causes a Multisystem Disorder Including Arrhythmia and Autism
2004
A genetic approach to understanding auditory function
2001
The very small-conductance K+ channel KVLQT1 and epithelial function
2000
Coiled Coils Direct Assembly of a Cold-Activated TRP Channel
2006 StandoutNobel
FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease
2002 Standout
Tissue Origins and Interactions in the Mammalian Skull Vault
2002 Standout
Fibroblast growth factor signalling: from development to cancer
2010 Standout
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
2001
Four potassium channel mutations account for 73% of the genetic spectrum underlying long‐QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland
2004
Chromosome 21 and Down syndrome: from genomics to pathophysiology
2004 Standout
Antibodies to myelin protein zero (P0) protein as markers of auto-immune inner ear diseases
2007 StandoutNobel
Genomic Structure of Three Long QT Syndrome Genes:KVLQT1, HERG,andKCNE1
1998
Portrait of PTEN: Messages from mutant mice
2008 StandoutNobel
Genetics of craniofacial development and malformation
2001
Neuroligins and neurexins link synaptic function to cognitive disease
2008 StandoutNatureNobel
A constitutively open potassium channel formed by KCNQ1 and KCNE3
2000 StandoutNature
p63 is a p53 homologue required for limb and epidermal morphogenesis
1999 StandoutNature
Further evidence of inherited long QT syndrome gene mutations in antiarrhythmic drug–associated torsades de pointes
2007
The long QT syndromes: genetic basis and clinical implications
2000
Cornerstones of CRISPR–Cas in drug discovery and therapy
2016 StandoutNobel
Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome
1999
Down syndrome
2020 Standout
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families
1999
10 Years ofGenomics,Chromosome 21, and Down Syndrome
1998
A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly
2000
Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans
2005
GREAT improves functional interpretation of cis-regulatory regions
2010 Standout
Neurosensory mechanotransduction
2008 StandoutNobel
Charcot‐Marie‐Tooth disease and related neuropathies: Mutation distribution and genotype‐phenotype correlation
2001
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
2003
The usual suspects in sudden cardiac death of the young: a focus on inherited arrhythmogenic diseases
2014
Importance of basolateral K+ conductance in maintaining Cl− secretion in murine nasal and colonic epithelia
1998
Uropathic Observations in Mice Expressing a Constitutively Active Point Mutation in the 5-HT3AReceptor Subunit
2004 StandoutNobel
The effects of cardioactive drugs on cardiomyocytes derived from human induced pluripotent stem cells
2009 StandoutNobel
The peripheral myelin protein 22 and epithelial membrane protein family
2000
The Fibroblast Growth Factor signaling pathway
2015 Standout
Gain of Function Mutants: Ion Channels and G Protein-Coupled Receptors
2000
Magnesium in Man: Implications for Health and Disease
2014 Standout
Development itself is the key to understanding developmental disorders
1998 Standout
Rho GTPases and their effector proteins
2000 Standout
Nonsyndromic Deafness DFNA1 Associated with Mutation of a Human Homolog of the Drosophila Gene diaphanous
1997 Science
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
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
2000 Standout
Biology of Oligodendrocyte and Myelin in the Mammalian Central Nervous System
2001 Standout
Spectrum of Mutations in Long-QT Syndrome Genes
2000
TRP ION CHANNELS AND TEMPERATURE SENSATION
2006 StandoutNobel
cAMP-mediated regulation of murine intestinal/pancreatic Na+/HCO 3 − cotransporter subtype pNBC1
2003 StandoutNobel
An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level
2013 Science
Claudins and the Modulation of Tight Junction Permeability
2013 Standout
Genetic and Molecular Basis of Cardiac Arrhythmias: Impact on Clinical Management Part III
1999
Pharmacogenomics: Translating Functional Genomics into Rational Therapeutics
1999 StandoutScience
Terminal 22q Deletion Syndrome: A Newly Recognized Cause of Speech and Language Disability in the Autism Spectrum
2004
Nonreciprocal homeostatic compensation in Drosophila potassium channel mutants
2017 StandoutNobel
Genetics of Sensory Mechanotransduction
2002 StandoutNobel
Works of Jess Tyson being referenced
Mapping of DFN2 to Xq22
1996
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome
2000
Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome
1997
No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome
2002
Determination of haplotypes at structurally complex regions using emulsion haplotype fusion PCR
2012
IsK and KvLQT1: Mutation in Either of the Two Subunits of the Slow Component of the Delayed Rectifier Potassium Channel Can Cause Jervell and Lange-Nielsen Syndrome
1997
Jervell and Lange-Nielsen syndrome: A Norwegian perspective
1999
Clinical and Biochemical Findings of a Patient With Thanatophoric Dysplasia Type I: Additional Finding of Dicarboxylic Aciduria
2002
Mapping of a locus for autosomal dominant Hemifacial Microsomia
2000