Published in Am J Med Genet A on June 15, 2008
Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. Pediatr Cardiol (2009) 2.54
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet (2013) 2.44
Energetics, epigenetics, mitochondrial genetics. Mitochondrion (2009) 2.08
Arthrogryposis: a review and update. J Bone Joint Surg Am (2009) 2.04
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. Biomed Res Int (2014) 1.50
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord (2014) 1.42
Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization. PLoS Genet (2014) 1.13
A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism. J Clin Endocrinol Metab (2010) 1.07
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Circ Cardiovasc Genet (2009) 0.96
Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. Acta Myol (2013) 0.89
Left ventricular noncompaction in a family with lamin A/C gene mutation. Tex Heart Inst J (2015) 0.88
Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy. Eur J Hum Genet (2014) 0.87
Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24. PLoS One (2012) 0.86
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet (2016) 0.86
Cytoplasmic localization of PML particles in laminopathies. Histochem Cell Biol (2012) 0.85
Low and high expressing alleles of the LMNA gene: implications for laminopathy disease development. PLoS One (2011) 0.85
Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all. Expert Rev Mol Diagn (2010) 0.85
LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset. Am J Med Genet A (2013) 0.85
Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy. Hum Genet (2010) 0.83
Concordance rates of Wilson's disease phenotype among siblings. J Inherit Metab Dis (2013) 0.83
The Drosophila nuclear lamina protein otefin is required for germline stem cell survival. Dev Cell (2013) 0.79
Clinical Utility Gene Card for: Familial partial lipodystrophy. Eur J Hum Genet (2016) 0.77
From zebrafish heart jogging genes to mouse and human orthologs: using Gene Ontology to investigate mammalian heart development. F1000Res (2013) 0.76
Current insights into LMNA cardiomyopathies: Existing models and missing LINCs. Nucleus (2017) 0.75
Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology. Neuromuscul Disord (2016) 0.75
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies. Mol Syndromol (2011) 0.75
Lamin A/C mutations do not cause left ventricular hypertrabeculation/noncompaction. Tex Heart Inst J (2015) 0.75
LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes. Front Genet (2017) 0.75
Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T LMNA mutation. Endocrinol Diabetes Metab Case Rep (2017) 0.75
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science (2007) 37.88
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science (2007) 32.97
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet (2007) 12.62
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med (2004) 8.62
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med (2006) 7.31
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet (2010) 6.66
Phosphorylation of HuR by Chk2 regulates SIRT1 expression. Mol Cell (2007) 5.29
Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children. PLoS Med (2011) 3.94
Teenage pregnancy and adverse birth outcomes: a large population based retrospective cohort study. Int J Epidemiol (2007) 3.88
Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes (2007) 3.84
Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab (2008) 3.80
Association analysis of 6,736 U.K. subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk. Diabetes (2006) 3.79
Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A (2007) 3.77
Combining information from common type 2 diabetes risk polymorphisms improves disease prediction. PLoS Med (2006) 3.75
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet (2004) 3.72
Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet (2007) 3.58
No evidence of association of ENPP1 variants with type 2 diabetes or obesity in a study of 8,089 U.K. Caucasians. Diabetes (2006) 3.58
Significant linkage of BMI to chromosome 10p in the U.K. population and evaluation of GAD2 as a positional candidate. Diabetes (2006) 3.51
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet (2007) 3.26
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet (2003) 3.22
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med (2007) 3.17
AIP mutation in pituitary adenomas in the 18th century and today. N Engl J Med (2011) 3.14
Selective serotonin reuptake inhibitors and adverse pregnancy outcomes. Am J Obstet Gynecol (2006) 3.09
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet (2008) 3.06
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes (2007) 3.00
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet (2004) 3.00
Chk1 is required for spindle checkpoint function. Dev Cell (2007) 2.90
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain (2006) 2.77
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Nat Genet (2011) 2.73
Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function. Diabetes (2007) 2.73
An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets. Nat Genet (2005) 2.66
A globally optimal k-anonymity method for the de-identification of health data. J Am Med Inform Assoc (2009) 2.66
Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care (2007) 2.62
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. Lancet Neurol (2010) 2.60
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med (2009) 2.53
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Nat Genet (2002) 2.50
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet (2004) 2.50
Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia. N Engl J Med (2014) 2.47
Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans. Diabetes (2010) 2.44
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mutat (2009) 2.29
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet (2009) 2.22
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. Diabetes (2011) 2.21
Lamin A/C-dependent localization of Nesprin-2, a giant scaffolder at the nuclear envelope. Mol Biol Cell (2005) 2.15
Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genet Test Mol Biomarkers (2010) 2.09
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat (2009) 2.07
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci (2012) 1.97
Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young. Diabetes Care (2012) 1.95
Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet (2011) 1.94
Ethnic subgroup differences in hypertension in Pakistan. J Hypertens (2003) 1.94
An international trial of antioxidants in the prevention of preeclampsia (INTAPP). Am J Obstet Gynecol (2010) 1.90
The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development. Diabetes (2008) 1.88
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Hum Mutat (2006) 1.88
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. J Clin Endocrinol Metab (2011) 1.87
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet (2012) 1.85
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science (2008) 1.84
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum Mol Genet (2006) 1.83
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet (2011) 1.77
Transcription factor HNF1beta and novel partners affect nephrogenesis. Kidney Int (2008) 1.73
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet (2013) 1.72
A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One (2012) 1.72
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet (2007) 1.72
Definition, epidemiology and classification of diabetes in children and adolescents. Pediatr Diabetes (2009) 1.69
The fetal alert network: an innovative program of access to care, surveillance, and education for birth defects in Ontario. J Obstet Gynaecol Can (2006) 1.69
Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. Diabet Med (2011) 1.68
Shedding light on the decision to retain an interview for medical student selection. N Z Med J (2012) 1.67
HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months. Diabetes (2006) 1.66
Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data. Diabetes (2008) 1.64
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry (2013) 1.64
Variation in the ADIPOQ gene promoter is associated with carotid intima media thickness independent of plasma adiponectin levels in healthy subjects. Eur Heart J (2007) 1.63
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. Hum Mol Genet (2005) 1.61
Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes. Hum Mol Genet (2009) 1.61
Targeted suppression of calpain-10 expression impairs insulin-stimulated glucose uptake in cultured primary human skeletal muscle cells. Mol Genet Metab (2007) 1.60
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. J Clin Invest (2009) 1.60
Risk of birth defects increased in pregnancies conceived by assisted human reproduction. Fertil Steril (2008) 1.58
Gestational age-specific severe maternal morbidity associated with labor induction. Am J Obstet Gynecol (2013) 1.57
Maternal exposure to moderate ambient carbon monoxide is associated with decreased risk of preeclampsia. Am J Obstet Gynecol (2012) 1.56
Altered pre-lamin A processing is a common mechanism leading to lipodystrophy. Hum Mol Genet (2005) 1.54
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. Am J Hum Genet (2010) 1.52
Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum Mol Genet (2005) 1.52
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol (2008) 1.52
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet (2013) 1.51
The association between fetal sex and preterm birth in twin pregnancies. Obstet Gynecol (2004) 1.51
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain (2010) 1.51
Mesangiocapillary glomerulonephritis type 2 associated with familial partial lipodystrophy (Dunnigan-Kobberling syndrome). Nephron Clin Pract (2004) 1.51
Subclinical cardiac involvement in myotonic dystrophy manifesting as decreased myocardial Doppler velocities. Neuromuscul Disord (2004) 1.50
Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes. Diabetes Care (2003) 1.50
Insulin resistance, insulin response, and obesity as indicators of metabolic risk. J Clin Endocrinol Metab (2007) 1.49
Incidence, risk factors, and associated complications of eclampsia. Obstet Gynecol (2011) 1.49