Published in Hum Mol Genet on January 15, 2009
Childhood obesity. Lancet (2010) 5.47
The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. Cell (2010) 3.83
The primary cilium as a complex signaling center. Curr Biol (2009) 3.73
Trafficking to the ciliary membrane: how to get across the periciliary diffusion barrier? Annu Rev Cell Dev Biol (2010) 3.38
Obesity and leptin resistance: distinguishing cause from effect. Trends Endocrinol Metab (2010) 2.79
The primary cilium at a glance. J Cell Sci (2010) 2.55
Recent advances in understanding leptin signaling and leptin resistance. Am J Physiol Endocrinol Metab (2009) 2.27
Bardet-Biedl syndrome. Eur J Hum Genet (2012) 2.15
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc Natl Acad Sci U S A (2010) 2.09
The role of primary cilia in neuronal function. Neurobiol Dis (2010) 1.69
Cilia in the CNS: the quiet organelle claims center stage. Neuron (2011) 1.59
Genetic approaches to understanding human obesity. J Clin Invest (2011) 1.50
Leptin-promoted cilia assembly is critical for normal energy balance. J Clin Invest (2014) 1.49
Role of primary cilia in brain development and cancer. Curr Opin Neurobiol (2010) 1.49
Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice. Cell Metab (2014) 1.42
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. J Biol Chem (2012) 1.42
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. Proc Natl Acad Sci U S A (2011) 1.32
Primary cilia and coordination of receptor tyrosine kinase (RTK) signalling. J Pathol (2011) 1.27
Cut-like homeobox 1 (CUX1) regulates expression of the fat mass and obesity-associated and retinitis pigmentosa GTPase regulator-interacting protein-1-like (RPGRIP1L) genes and coordinates leptin receptor signaling. J Biol Chem (2010) 1.26
Alström syndrome: insights into the pathogenesis of metabolic disorders. Nat Rev Endocrinol (2010) 1.25
Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model. Proc Natl Acad Sci U S A (2011) 1.22
Pediatric obesity: etiology and treatment. Endocrinol Metab Clin North Am (2009) 1.22
The dynamic cilium in human diseases. Pathogenetics (2009) 1.13
Endothelial cells from humans and mice with polycystic kidney disease are characterized by polyploidy and chromosome segregation defects through survivin down-regulation. Hum Mol Genet (2010) 1.11
Primary cilia in the developing and mature brain. Neuron (2014) 1.11
Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance. J Clin Endocrinol Metab (2011) 1.10
TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice. Invest Ophthalmol Vis Sci (2012) 1.09
The blind leading the obese: the molecular pathophysiology of a human obesity syndrome. Trans Am Clin Climatol Assoc (2010) 1.09
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking. J Cell Sci (2013) 1.08
Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model. Nat Med (2012) 1.08
Leptin signaling and leptin resistance. Front Med (2013) 1.08
Molecular basis of the obesity associated with Bardet-Biedl syndrome. Trends Endocrinol Metab (2011) 1.01
Update on the genetics of bardet-biedl syndrome. Mol Syndromol (2013) 1.00
BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Hum Mol Genet (2013) 0.99
Leptin resistance is a secondary consequence of the obesity in ciliopathy mutant mice. Proc Natl Acad Sci U S A (2013) 0.98
Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development. Organogenesis (2013) 0.98
New structural and functional contexts of the Dx[DN]xDG linear motif: insights into evolution of calcium-binding proteins. PLoS One (2011) 0.98
Mouse models of ciliopathies: the state of the art. Dis Model Mech (2012) 0.94
Hyperactive neuroendocrine secretion causes size, feeding, and metabolic defects of C. elegans Bardet-Biedl syndrome mutants. PLoS Biol (2011) 0.93
Ciliopathies: the trafficking connection. Traffic (2014) 0.93
The neuropathology of obesity: insights from human disease. Acta Neuropathol (2013) 0.91
The primary cilium in different tissues-lessons from patients and animal models. Pediatr Nephrol (2010) 0.91
A role for the vesicle-associated tubulin binding protein ARL6 (BBS3) in flagellum extension in Trypanosoma brucei. Biochim Biophys Acta (2012) 0.89
GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance. PLoS One (2014) 0.89
A complex of BBS1 and NPHP7 is required for cilia motility in zebrafish. PLoS One (2013) 0.88
Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. Hum Mol Genet (2014) 0.88
Circannual transitions in gene expression: lessons from seasonal adaptations. Curr Top Dev Biol (2013) 0.86
New pharmacological perspectives for the leptin receptor in the treatment of obesity. Front Endocrinol (Lausanne) (2014) 0.86
Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat. Int J Obes (Lond) (2015) 0.86
Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice. PLoS One (2013) 0.84
Bariatric surgery in hypothalamic obesity. Front Endocrinol (Lausanne) (2012) 0.84
Magel2 is required for leptin-mediated depolarization of POMC neurons in the hypothalamic arcuate nucleus in mice. PLoS Genet (2013) 0.84
Paramecium BBS genes are key to presence of channels in Cilia. Cilia (2012) 0.83
The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane. PLoS Genet (2016) 0.83
Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans. PLoS Genet (2011) 0.83
Structural defects in cilia of the choroid plexus, subfornical organ and ventricular ependyma are associated with ventriculomegaly. Fluids Barriers CNS (2012) 0.82
Appearance of leptin-HSP70 correlation, in type 2 diabetes. Meta Gene (2013) 0.81
Pediatric obesity. An introduction. Appetite (2015) 0.81
Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins. PLoS Genet (2015) 0.80
Hyperphagia: current concepts and future directions proceedings of the 2nd international conference on hyperphagia. Obesity (Silver Spring) (2014) 0.80
Eating behaviors in obese children with pseudohypoparathyroidism type 1a: a cross-sectional study. Int J Pediatr Endocrinol (2014) 0.80
Metabolic regulation and energy homeostasis through the primary Cilium. Cell Metab (2014) 0.80
Anorectal atresia and variants at predicted regulatory sites in candidate genes. Ann Hum Genet (2012) 0.80
Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes. Am J Physiol Heart Circ Physiol (2010) 0.79
Molecular signatures reveal circadian clocks may orchestrate the homeorhetic response to lactation. PLoS One (2009) 0.79
Primary cilia in energy balance signaling and metabolic disorder. BMB Rep (2015) 0.78
Bardet-Biedl Syndrome, Crohn Disease, Primary Sclerosing Cholangitis, and Autoantibody Positive Thyroiditis: A Case Report and A Review of a Cohort of BBS Patients. Case Rep Med (2012) 0.78
Pediatric obesity: etiology and treatment. Pediatr Clin North Am (2011) 0.78
Hippocampal and cortical primary cilia are required for aversive memory in mice. PLoS One (2014) 0.78
A novel form of ciliopathy underlies hyperphagia and obesity in Ankrd26 knockout mice. Brain Struct Funct (2014) 0.78
The cellular and molecular bases of leptin and ghrelin resistance in obesity. Nat Rev Endocrinol (2017) 0.77
Early-Life Nutritional Programming of Cognition-The Fundamental Role of Epigenetic Mechanisms in Mediating the Relation between Early-Life Environment and Learning and Memory Process. Adv Nutr (2017) 0.77
Hyperphagia among patients with Bardet-Biedl syndrome. Pediatr Obes (2013) 0.77
60 YEARS OF POMC: From POMC and α-MSH to PAM, molecular oxygen, copper, and vitamin C. J Mol Endocrinol (2015) 0.77
Bardet-Biedl Syndrome. Mol Syndromol (2016) 0.76
Genetic strategies to understand physiological pathways regulating body weight. Mamm Genome (2014) 0.76
Leptin Elongates Hypothalamic Neuronal Cilia via Transcriptional Regulation and Actin Destabilization. J Biol Chem (2015) 0.76
Dysfunction of intraflagellar transport-A causes hyperphagia-induced obesity and metabolic syndrome. Dis Model Mech (2016) 0.75
Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol (2016) 0.75
Obesity in patients with Bardet-Biedl syndrome: influence of appetite-regulating hormones. Pediatr Nephrol (2012) 0.75
Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alström Syndrome provides mechanistic insight into shared and divergent phenotypes. BMC Genomics (2016) 0.75
The Leptin Receptor Complex: Heavier Than Expected? Front Endocrinol (Lausanne) (2017) 0.75
A compendium of human genes regulating feeding behavior and body weight, its functional characterization and identification of GWAS genes involved in brain-specific PPI network. BMC Genet (2016) 0.75
Determination of the half life of circulating leptin in the mouse. Int J Obes (Lond) (2016) 0.75
BBS4 is necessary for ciliary localization of TrkB receptor and activation by BDNF. PLoS One (2014) 0.75
IL-6 Ameliorates Defective Leptin Sensitivity in DIO Ventromedial Hypothalamic Nucleus Neurons. Am J Physiol Regul Integr Comp Physiol (2016) 0.75
Inactivation of class II PI3K-C2α induces leptin resistance, age-dependent insulin resistance and obesity in male mice. Diabetologia (2016) 0.75
Genes and molecular pathways underpinning ciliopathies. Nat Rev Mol Cell Biol (2017) 0.75
Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods (2001) 414.27
Serum immunoreactive-leptin concentrations in normal-weight and obese humans. N Engl J Med (1996) 16.98
Leptin and the regulation of body weight in mammals. Nature (1998) 14.84
Central nervous system control of food intake and body weight. Nature (2006) 11.89
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell (2007) 10.75
Leptin levels in human and rodent: measurement of plasma leptin and ob RNA in obese and weight-reduced subjects. Nat Med (1995) 8.51
Abnormal splicing of the leptin receptor in diabetic mice. Nature (1996) 7.71
Evidence that the diabetes gene encodes the leptin receptor: identification of a mutation in the leptin receptor gene in db/db mice. Cell (1996) 7.45
Leptin receptor signaling in POMC neurons is required for normal body weight homeostasis. Neuron (2004) 7.15
Anatomy and regulation of the central melanocortin system. Nat Neurosci (2005) 6.60
Leptin levels reflect body lipid content in mice: evidence for diet-induced resistance to leptin action. Nat Med (1995) 5.45
EEA1, an early endosome-associated protein. EEA1 is a conserved alpha-helical peripheral membrane protein flanked by cysteine "fingers" and contains a calmodulin-binding IQ motif. J Biol Chem (1995) 5.45
Adipose tissue as an endocrine organ. Trends Endocrinol Metab (2000) 4.07
Identification of SOCS-3 as a potential mediator of central leptin resistance. Mol Cell (1998) 3.84
Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease. Curr Biol (2007) 3.76
Neuronal PTP1B regulates body weight, adiposity and leptin action. Nat Med (2006) 3.66
The hormonal control of food intake. Cell (2007) 3.61
Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia. Proc Natl Acad Sci U S A (2008) 3.21
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. Proc Natl Acad Sci U S A (2004) 3.11
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Proc Natl Acad Sci U S A (2004) 3.01
Molecular and anatomical determinants of central leptin resistance. Nat Neurosci (2005) 2.98
Collective and individual functions of leptin receptor modulated neurons controlling metabolism and ingestion. Endocrinology (2007) 2.95
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proc Natl Acad Sci U S A (2007) 2.36
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Hum Mol Genet (2006) 2.32
Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport. Cell Mol Life Sci (2006) 2.19
Role of melanocortin-4 receptors in mediating renal sympathoactivation to leptin and insulin. J Neurosci (2003) 2.14
Bardet-Biedl syndrome: beyond the cilium. Pediatr Nephrol (2007) 2.14
Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome. J Clin Invest (2008) 2.07
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Hum Mol Genet (2005) 2.04
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A (2005) 2.03
The Creb1 coactivator Crtc1 is required for energy balance and fertility. Nat Med (2008) 1.87
Regulation of neuronal and glial proteins by leptin: implications for brain development. Endocrinology (1999) 1.87
Primate homologues of rat TGN38: primary structure, expression and functional implications. J Cell Sci (1996) 1.44
Low levels of expression of leptin receptor at the cell surface result from constitutive endocytosis and intracellular retention in the biosynthetic pathway. J Biol Chem (2004) 1.16
Leptin and its receptors are present in the rat olfactory mucosa and modulated by the nutritional status. Brain Res (2006) 1.13
Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians. Diabetes (2006) 1.11
Leptin receptor immunoreactivity is associated with the Golgi apparatus of hypothalamic neurons and glial cells. J Neuroendocrinol (1998) 0.99
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell (2007) 10.75
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc Natl Acad Sci U S A (2006) 4.16
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell (2011) 3.95
A guide to analysis of mouse energy metabolism. Nat Methods (2011) 3.82
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
A BBSome subunit links ciliogenesis, microtubule stability, and acetylation. Dev Cell (2008) 3.17
Missense variations in the fibulin 5 gene and age-related macular degeneration. N Engl J Med (2004) 3.15
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. Proc Natl Acad Sci U S A (2004) 3.11
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Proc Natl Acad Sci U S A (2004) 3.01
The central melanocortin system directly controls peripheral lipid metabolism. J Clin Invest (2007) 2.97
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet (2002) 2.94
Regulation of gene expression in the mammalian eye and its relevance to eye disease. Proc Natl Acad Sci U S A (2006) 2.91
Hypothalamic AMPK and fatty acid metabolism mediate thyroid regulation of energy balance. Nat Med (2010) 2.76
Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). Am J Hum Genet (2004) 2.67
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. Nat Genet (2002) 2.63
Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46
Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome. Proc Natl Acad Sci U S A (2011) 2.44
LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. Am J Ophthalmol (2007) 2.43
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proc Natl Acad Sci U S A (2007) 2.36
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Hum Mol Genet (2006) 2.32
The brain Renin-angiotensin system controls divergent efferent mechanisms to regulate fluid and energy balance. Cell Metab (2010) 2.26
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am J Hum Genet (2005) 2.25
Role of selective leptin resistance in diet-induced obesity hypertension. Diabetes (2005) 2.24
Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology (2012) 2.21
BMP8B increases brown adipose tissue thermogenesis through both central and peripheral actions. Cell (2012) 2.20
Role of melanocortin-4 receptors in mediating renal sympathoactivation to leptin and insulin. J Neurosci (2003) 2.14
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc Natl Acad Sci U S A (2010) 2.09
Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome. J Clin Invest (2008) 2.07
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Hum Mol Genet (2005) 2.04
An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. Genes Dev (2011) 2.00
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum Mol Genet (2003) 1.98
The ion channel ASIC2 is required for baroreceptor and autonomic control of the circulation. Neuron (2009) 1.97
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. Proc Natl Acad Sci U S A (2011) 1.87
Hypothalamic PI3K and MAPK differentially mediate regional sympathetic activation to insulin. J Clin Invest (2004) 1.74
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Hum Mol Genet (2011) 1.74
The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proc Natl Acad Sci U S A (2002) 1.73
Hypothalamic arcuate nucleus mediates the sympathetic and arterial pressure responses to leptin. Hypertension (2006) 1.73
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma. J Clin Invest (2011) 1.69
SIRT1 deacetylase in POMC neurons is required for homeostatic defenses against diet-induced obesity. Cell Metab (2010) 1.64
Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene. Am J Med Genet B Neuropsychiatr Genet (2005) 1.64
Myocilin glaucoma. Surv Ophthalmol (2002) 1.63
Central melanin-concentrating hormone influences liver and adipose metabolism via specific hypothalamic nuclei and efferent autonomic/JNK1 pathways. Gastroenterology (2012) 1.58
Differential modulation of leptin-induced sympathoexcitation by baroreflex activation. J Hypertens (2002) 1.57
Direct control of peripheral lipid deposition by CNS GLP-1 receptor signaling is mediated by the sympathetic nervous system and blunted in diet-induced obesity. J Neurosci (2009) 1.54
ER stress in the brain subfornical organ mediates angiotensin-dependent hypertension. J Clin Invest (2012) 1.51
A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. PLoS Genet (2011) 1.49
Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. Am J Hum Genet (2011) 1.49
Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia. Proc Natl Acad Sci U S A (2008) 1.49
Amylin acts in the central nervous system to increase sympathetic nerve activity. Endocrinology (2013) 1.47
A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes. Proc Natl Acad Sci U S A (2009) 1.47
Selective leptin resistance: a new concept in leptin physiology with cardiovascular implications. J Hypertens (2002) 1.45
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. Hum Mol Genet (2008) 1.44
Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure. Hum Mol Genet (2007) 1.44
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. Am J Ophthalmol (2003) 1.43
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. J Biol Chem (2012) 1.42
Enhanced leptin-stimulated Pi3k activation in the CNS promotes white adipose tissue transdifferentiation. Cell Metab (2007) 1.39
Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Invest Ophthalmol Vis Sci (2006) 1.39
Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure. J Clin Invest (2008) 1.39
The concept of selective leptin resistance: evidence from agouti yellow obese mice. Diabetes (2002) 1.37
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. Hum Mol Genet (2004) 1.36
ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting. Proc Natl Acad Sci U S A (2012) 1.34
BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. Hum Mol Genet (2012) 1.33
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. Proc Natl Acad Sci U S A (2011) 1.32
A constrained-likelihood approach to marker-trait association studies. Am J Hum Genet (2005) 1.32
Intracellular mechanisms involved in leptin regulation of sympathetic outflow. Hypertension (2002) 1.31
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. Am J Ophthalmol (2003) 1.30
Direct control of brown adipose tissue thermogenesis by central nervous system glucagon-like peptide-1 receptor signaling. Diabetes (2012) 1.29
Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage. Invest Ophthalmol Vis Sci (2007) 1.28
Variations in the myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol (2002) 1.28
Genome-wide identification of pseudogenes capable of disease-causing gene conversion. Hum Mutat (2006) 1.27
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. Hum Mol Genet (2013) 1.27
Ablation of the leptin receptor in the hypothalamic arcuate nucleus abrogates leptin-induced sympathetic activation. Circ Res (2011) 1.27
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet (2003) 1.27
Glucose depletion in the airway surface liquid is essential for sterility of the airways. PLoS One (2011) 1.26
Evaluation of FOXP2 as an autism susceptibility gene. Am J Med Genet (2002) 1.25