Published in PLoS One on October 29, 2013
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet (2016) 1.35
Monitoring G Protein Activation in Cells with BRET. Methods Mol Biol (2015) 0.86
Beat-to-beat cycle length variability of spontaneously beating guinea pig sinoatrial cells: relative contributions of the membrane and calcium clocks. PLoS One (2014) 0.80
Absence of the Regulator of G-protein Signaling, RGS4, Predisposes to Atrial Fibrillation and Is Associated with Abnormal Calcium Handling. J Biol Chem (2015) 0.77
RGS6, but not RGS4, is the dominant regulator of G protein signaling (RGS) modulator of the parasympathetic regulation of mouse heart rate. J Biol Chem (2013) 0.77
Dominant-negative Gα subunits are a mechanism of dysregulated heterotrimeric G protein signaling in human disease. Sci Signal (2016) 0.76
The agonist-specific voltage dependence of M2 muscarinic receptors modulates the deactivation of the acetylcholine-gated K(+) current (I KACh). Pflugers Arch (2016) 0.76
Stable G protein-effector complexes in striatal neurons: mechanism of assembly and role in neurotransmitter signaling. Elife (2015) 0.75
Regulator of G Protein Signaling 6 Protects the Heart from Ischemic Injury. J Pharmacol Exp Ther (2016) 0.75
Genetic loci associated with heart rate variability and their effects on cardiac disease risk. Nat Commun (2017) 0.75
Heart rate variability: standards of measurement, physiological interpretation and clinical use. Task Force of the European Society of Cardiology and the North American Society of Pacing and Electrophysiology. Circulation (1996) 37.54
Power spectrum analysis of heart rate fluctuation: a quantitative probe of beat-to-beat cardiovascular control. Science (1981) 10.62
Decreased heart rate variability and its association with increased mortality after acute myocardial infarction. Am J Cardiol (1987) 9.10
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res (2009) 6.83
The G-protein-gated atrial K+ channel IKACh is a heteromultimer of two inwardly rectifying K(+)-channel proteins. Nature (1995) 4.96
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet (2012) 4.45
A coupled SYSTEM of intracellular Ca2+ clocks and surface membrane voltage clocks controls the timekeeping mechanism of the heart's pacemaker. Circ Res (2010) 3.99
Absence epilepsy and sinus dysrhythmia in mice lacking the pacemaker channel HCN2. EMBO J (2003) 3.02
Genesis and regulation of the heart automaticity. Physiol Rev (2008) 2.71
Functional role of L-type Cav1.3 Ca2+ channels in cardiac pacemaker activity. Proc Natl Acad Sci U S A (2003) 2.60
Engineered luciferase reporter from a deep sea shrimp utilizing a novel imidazopyrazinone substrate. ACS Chem Biol (2012) 2.53
RGS proteins reconstitute the rapid gating kinetics of gbetagamma-activated inwardly rectifying K+ channels. Proc Natl Acad Sci U S A (1997) 2.43
Abnormal heart rate regulation in GIRK4 knockout mice. Neuron (1998) 2.27
Insights from the study of heart rate variability. Annu Rev Med (1999) 2.16
Endogenous RGS proteins and Galpha subtypes differentially control muscarinic and adenosine-mediated chronotropic effects. Circ Res (2006) 2.15
HCN4 provides a 'depolarization reserve' and is not required for heart rate acceleration in mice. EMBO J (2007) 2.13
RGS6, RGS7, RGS9, and RGS11 stimulate GTPase activity of Gi family G-proteins with differential selectivity and maximal activity. J Biol Chem (2003) 1.91
An unexpected requirement for brain-type sodium channels for control of heart rate in the mouse sinoatrial node. Proc Natl Acad Sci U S A (2003) 1.86
The G protein-gated potassium current I(K,ACh) is constitutively active in patients with chronic atrial fibrillation. Circulation (2005) 1.77
Evaluation of the role of I(KACh) in atrial fibrillation using a mouse knockout model. J Am Coll Cardiol (2001) 1.73
Phenotypic screening for heart rate variability in the mouse. Am J Physiol Heart Circ Physiol (2000) 1.64
RGS4 regulates parasympathetic signaling and heart rate control in the sinoatrial node. Circ Res (2008) 1.61
Poincaré plot of heart rate variability allows quantitative display of parasympathetic nervous activity in humans. Clin Sci (Lond) (1996) 1.60
Identification of a Kir3.4 mutation in congenital long QT syndrome. Am J Hum Genet (2010) 1.57
The c-terminus of GRK3 indicates rapid dissociation of G protein heterotrimers. Cell Signal (2009) 1.40
Heart rate variability and myocardial infarction: systematic literature review and metanalysis. Eur Rev Med Pharmacol Sci (2009) 1.39
Poincaré plot interpretation using a physiological model of HRV based on a network of oscillators. Am J Physiol Heart Circ Physiol (2002) 1.39
RGS6, a modulator of parasympathetic activation in heart. Circ Res (2010) 1.32
Endogenous RGS proteins modulate SA and AV nodal functions in isolated heart: implications for sick sinus syndrome and AV block. Am J Physiol Heart Circ Physiol (2007) 1.21
RGS6/Gβ5 complex accelerates IKACh gating kinetics in atrial myocytes and modulates parasympathetic regulation of heart rate. Circ Res (2010) 1.18
Pacemaker channels and sinus node arrhythmia. Trends Cardiovasc Med (2004) 1.18
Changes in I K, ACh single-channel activity with atrial tachycardia remodelling in canine atrial cardiomyocytes. Cardiovasc Res (2007) 1.01
Origin of heart rate variability and turbulence: an appraisal of autonomic modulation of cardiovascular function. Front Physiol (2011) 0.98
Genome scan linkage results for heart rate variability (the Framingham Heart Study). Am J Cardiol (2002) 0.96
The complex of G protein regulator RGS9-2 and Gβ(5) controls sensitization and signaling kinetics of type 5 adenylyl cyclase in the striatum. Sci Signal (2012) 0.95
Constitutive activity of the M1-M4 subtypes of muscarinic receptors in transfected CHO cells and of muscarinic receptors in the heart cells revealed by negative antagonists. FEBS Lett (1995) 0.95
Characterization of in vivo and in vitro electrophysiological and antiarrhythmic effects of a novel IKACh blocker, NIP-151: a comparison with an IKr-blocker dofetilide. J Cardiovasc Pharmacol (2008) 0.94
Absence of the inhibitory G-protein Galphai2 predisposes to ventricular cardiac arrhythmia. Circ Arrhythm Electrophysiol (2010) 0.90
Structure, G protein activation, and functional relevance of the cardiac G protein-gated K+ channel, IKACh. Ann N Y Acad Sci (1999) 0.90
Detection of cardiac variability in the isolated rat heart. Biol Res Nurs (2006) 0.89
RGS Proteins in Heart: Brakes on the Vagus. Front Physiol (2012) 0.86
Controlling Parasympathetic Regulation of Heart Rate: A Gatekeeper Role for RGS Proteins in the Sinoatrial Node. Front Physiol (2012) 0.80
Heart rate variability in isolated rabbit hearts. Pacing Clin Electrophysiol (1996) 0.80
Cardiac lesions in dairy cows with idiopathic atrial fibrillation. J Vet Med Sci (2001) 0.79
Sympathetic rhythmicity in cardiac transplant recipients. Circulation (1999) 0.77
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med (2013) 22.73
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med (2011) 8.26
Genomic inheritances: disclosing individual research results from whole-exome sequencing to deceased participants' relatives. Am J Bioeth (2012) 7.50
Addressing the ethical challenges in genetic testing and sequencing of children. Am J Bioeth (2014) 7.34
Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. Circ Cardiovasc Genet (2010) 6.74
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res (2010) 5.76
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet (2012) 4.45
Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med (2012) 4.04
Mutations in GNAL cause primary torsion dystonia. Nat Genet (2012) 3.66
RGS expression rate-limits recovery of rod photoresponses. Neuron (2006) 3.48
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet (2011) 3.43
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet (2010) 3.09
ATP binding to PAN or the 26S ATPases causes association with the 20S proteasome, gate opening, and translocation of unfolded proteins. Mol Cell (2005) 2.82
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet (2004) 2.72
Motivators for participation in a whole-genome sequencing study: implications for translational genomics research. Eur J Hum Genet (2011) 2.64
Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. Arthritis Rheum (2013) 2.60
Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. Nature (2004) 2.48
VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer. Bioinformatics (2011) 2.47
Exome sequencing makes medical genomics a reality. Nat Genet (2010) 2.47
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40
Elements of morphology: introduction. Am J Med Genet A (2009) 2.39
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am J Hum Genet (2005) 2.25
Regulation of mitochondrial structure and function by the F1Fo-ATPase inhibitor protein, IF1. Cell Metab (2008) 2.22
Vesicular dopamine release elicits an inhibitory postsynaptic current in midbrain dopamine neurons. Neuron (2004) 2.20
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder. Am J Med Genet A (2008) 2.17
Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. Am J Med Genet A (2007) 2.16
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Am J Hum Genet (2013) 2.15
Differential effects of stable prostacyclin analogs on smooth muscle proliferation and cyclic AMP generation in human pulmonary artery. Am J Respir Cell Mol Biol (2002) 2.06
Schizophrenia susceptibility pathway neuregulin 1-ErbB4 suppresses Src upregulation of NMDA receptors. Nat Med (2011) 2.05
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet (2010) 1.96
T (brachyury) gene duplication confers major susceptibility to familial chordoma. Nat Genet (2009) 1.95
Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study. Eur J Hum Genet (2012) 1.91
Heterotrimeric G proteins precouple with G protein-coupled receptors in living cells. Proc Natl Acad Sci U S A (2005) 1.91
Cutaneous manifestations of proteus syndrome: correlations with general clinical severity. Arch Dermatol (2004) 1.91
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat (2010) 1.88
Retracted The large-conductance Ca2+-activated K+ channel is essential for innate immunity. Nature (2004) 1.85
Molecular and cellular diversity of neuronal G-protein-gated potassium channels. J Neurosci (2005) 1.85
The R7 RGS protein family: multi-subunit regulators of neuronal G protein signaling. Cell Biochem Biophys (2009) 1.79
Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. Am J Med Genet A (2004) 1.77
Next-generation sequencing demands next-generation phenotyping. Hum Mutat (2012) 1.75
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet (2012) 1.74
Standard terminology for phenotypic variations: the elements of morphology project, its current progress, and future directions. Hum Mutat (2012) 1.71
The heart rate decrease caused by acute FTY720 administration is mediated by the G protein-gated potassium channel I. Am J Transplant (2005) 1.70
Femtosecond laser cataract surgery: technology and clinical practice. Clin Experiment Ophthalmol (2012) 1.70
Radiologic manifestations of Proteus syndrome. Radiographics (2004) 1.66
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Am J Hum Genet (2011) 1.65
Proteus syndrome: misdiagnosis with PTEN mutations. Am J Med Genet A (2003) 1.62
Absence of the RGS9.Gbeta5 GTPase-activating complex in photoreceptors of the R9AP knockout mouse. J Biol Chem (2003) 1.60
RGS2 modulates coupling between GABAB receptors and GIRK channels in dopamine neurons of the ventral tegmental area. Nat Neurosci (2007) 1.58
PKC-delta sensitizes Kir3.1/3.2 channels to changes in membrane phospholipid levels after M3 receptor activation in HEK-293 cells. Am J Physiol Cell Physiol (2005) 1.56
Control of late off-center cone bipolar cell differentiation and visual signaling by the homeobox gene Vsx1. Proc Natl Acad Sci U S A (2004) 1.56
Immunolocalization of KATP channel subunits in mouse and rat cardiac myocytes and the coronary vasculature. BMC Physiol (2005) 1.53
Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional. JAMA (2013) 1.48
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet (2011) 1.48
Compartment-dependent colocalization of Kir3.2-containing K+ channels and GABAB receptors in hippocampal pyramidal cells. J Neurosci (2006) 1.45
A candidate gene for autoimmune myasthenia gravis. Neurology (2012) 1.44
Interpreting secondary cardiac disease variants in an exome cohort. Circ Cardiovasc Genet (2013) 1.43
Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients. Am J Med Genet A (2003) 1.43
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. Am J Hum Genet (2011) 1.40
Establishment of clonal cell lines of taste buds from a p53(-/-) mouse tongue. In Vitro Cell Dev Biol Anim (2011) 1.40
The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. Am J Hum Genet (2012) 1.40
Retina-specific GTPase accelerator RGS11/G beta 5S/R9AP is a constitutive heterotrimer selectively targeted to mGluR6 in ON-bipolar neurons. J Neurosci (2009) 1.38
Exome sequencing: the expert view. Genome Biol (2011) 1.37
Serotonin 2C receptor activates a distinct population of arcuate pro-opiomelanocortin neurons via TRPC channels. Neuron (2011) 1.36
G-protein-gated potassium channels containing Kir3.2 and Kir3.3 subunits mediate the acute inhibitory effects of opioids on locus ceruleus neurons. J Neurosci (2002) 1.35
Contribution of the Kir3.1 subunit to the muscarinic-gated atrial potassium channel IKACh. J Biol Chem (2002) 1.34
In situ maleimide bridging of disulfides and a new approach to protein PEGylation. Bioconjug Chem (2011) 1.33
Spinal G-protein-gated potassium channels contribute in a dose-dependent manner to the analgesic effect of mu- and delta- but not kappa-opioids. J Neurosci (2005) 1.33
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A (2014) 1.31
Validation of My Family Health Portrait for six common heritable conditions. Genet Med (2010) 1.31
Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. Hum Genet (2003) 1.31
The membrane anchor R7BP controls the proteolytic stability of the striatal specific RGS protein, RGS9-2. J Biol Chem (2006) 1.31
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. Am J Hum Genet (2012) 1.30
Hedgehog signaling regulates sensory cell formation and auditory function in mice and humans. J Neurosci (2008) 1.30
Human immunodeficiency virus protein Tat induces synapse loss via a reversible process that is distinct from cell death. J Neurosci (2008) 1.28
Expression and localization of RGS9-2/G 5/R7BP complex in vivo is set by dynamic control of its constitutive degradation by cellular cysteine proteases. J Neurosci (2007) 1.28
Anabaptist genealogy database. Am J Med Genet C Semin Med Genet (2003) 1.28
Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology (2013) 1.28
Spinal G-protein-gated K+ channels formed by GIRK1 and GIRK2 subunits modulate thermal nociception and contribute to morphine analgesia. J Neurosci (2004) 1.27
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet (2003) 1.27
Neto1 is an auxiliary subunit of native synaptic kainate receptors. J Neurosci (2011) 1.26
Regulators of G protein signaling RGS7 and RGS11 determine the onset of the light response in ON bipolar neurons. Proc Natl Acad Sci U S A (2012) 1.26
Targeting of RGS7/Gbeta5 to the dendritic tips of ON-bipolar cells is independent of its association with membrane anchor R7BP. J Neurosci (2008) 1.26
Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet (2002) 1.25
Diagnostic clinical genome and exome sequencing. N Engl J Med (2014) 1.24
Regulation of M(Kv7.2/7.3) channels in neurons by PIP(2) and products of PIP(2) hydrolysis: significance for receptor-mediated inhibition. J Physiol (2007) 1.24
Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study. Eur Heart J (2012) 1.24
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Am J Med Genet A (2003) 1.23
Gbeta5 recruits R7 RGS proteins to GIRK channels to regulate the timing of neuronal inhibitory signaling. Nat Neurosci (2010) 1.22
Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. Proc Natl Acad Sci U S A (2006) 1.21
Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndrome. J Am Acad Dermatol (2010) 1.21