Published in Mol Cell Probes on October 18, 2011
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet (2008) 25.83
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. PLoS Genet (2007) 14.99
Variants in MTNR1B influence fasting glucose levels. Nat Genet (2008) 10.85
Heritability of cardiovascular and personality traits in 6,148 Sardinians. PLoS Genet (2006) 8.19
Common variants in the GDF5-UQCC region are associated with variation in human height. Nat Genet (2008) 7.31
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proc Natl Acad Sci U S A (2008) 5.27
DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad Sci U S A (2008) 4.46
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes (2010) 4.07
Diagnosis and phenotypic classification of Wilson disease. Liver Int (2003) 3.63
Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels. J Clin Invest (2008) 3.51
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
The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts. PLoS Genet (2007) 3.21
A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron. Haematologica (2008) 2.92
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet (2011) 2.16
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development. Hum Mol Genet (2004) 2.15
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. N Engl J Med (2016) 2.15
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. Hum Mol Genet (2009) 1.87
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet (2012) 1.82
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med (2010) 1.81
Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function. Am J Hum Genet (2008) 1.77
IRAK-M is involved in the pathogenesis of early-onset persistent asthma. Am J Hum Genet (2007) 1.77
A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One (2012) 1.72
KLF1 gene mutations cause borderline HbA(2). Blood (2011) 1.71
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet A (2004) 1.66
Genotype-phenotype correlation in Italian children with Wilson's disease. J Hepatol (2008) 1.63
Amelioration of Sardinian beta0 thalassemia by genetic modifiers. Blood (2009) 1.62
Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells. Hum Mol Genet (2007) 1.59
Fetal HLA typing in beta thalassaemia: implications for haemopoietic stem-cell transplantation. Lancet (2003) 1.48
Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism. Respiration (2017) 1.39
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet (2011) 1.34
The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population. Eur J Hum Genet (2013) 1.27
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. Am J Hum Genet (2007) 1.27
Foxl2 functions in sex determination and histogenesis throughout mouse ovary development. BMC Dev Biol (2009) 1.23
Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin. Haematologica (2011) 1.23
A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. PLoS Genet (2012) 1.23
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C Semin Med Genet (2012) 1.23
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. Best Pract Res Clin Rheumatol (2008) 1.22
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. Am J Hum Genet (2009) 1.21
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. Am J Med Genet A (2010) 1.17
COL4A1 is associated with arterial stiffness by genome-wide association scan. Circ Cardiovasc Genet (2009) 1.16
Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients. Br J Haematol (2004) 1.15
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. Am J Hum Genet (2008) 1.15
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. Am J Hum Genet (2011) 1.12
Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy. Rheumatol Int (2003) 1.12
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat (2010) 1.11
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet (2013) 1.11
The central arterial burden of the metabolic syndrome is similar in men and women: the SardiNIA Study. Eur Heart J (2009) 1.10
Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. J Bone Miner Res (2007) 1.09
High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs. J Pediatr Gastroenterol Nutr (2008) 1.08
FAM111A mutations result in hypoparathyroidism and impaired skeletal development. Am J Hum Genet (2013) 1.06
Effect of consanguinity on screening for thalassemia. N Engl J Med (2002) 1.05
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. Am J Med Genet A (2004) 1.03
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. J Clin Endocrinol Metab (2012) 1.03
Gene test review. Alpha-thalassemia. Genet Med (2011) 1.02
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder. Am J Med Genet A (2006) 1.02
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). Am J Med Genet A (2011) 1.02
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. Am J Hum Genet (2011) 1.02
Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study. Mol Genet Metab (2005) 1.01
FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences. Genomics (2004) 1.00
Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis. Pediatr Nephrol (2008) 1.00
Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area. Eur J Hum Genet (2008) 1.00
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. Am J Med Genet A (2003) 0.98
Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. J Biol Chem (2009) 0.97
Genetic isolates in Corsica (France): linkage disequilibrium extension analysis on the Xq13 region. Eur J Hum Genet (2004) 0.96
A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. Br J Haematol (2002) 0.96
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. Am J Med Genet A (2005) 0.95
Reliable detection of beta-thalassemia and G6PD mutations by a DNA microarray. Clin Chem (2002) 0.95
Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail. Hum Mutat (2009) 0.95
Determination and stability of sex. Bioessays (2007) 0.95
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. Am J Med Genet A (2006) 0.94
HLA-DQB1*0201 homozygosis predisposes to severe intestinal damage in celiac disease. Scand J Gastroenterol (2007) 0.93
Antitissue transglutaminase antibodies outside celiac disease. J Pediatr Gastroenterol Nutr (2002) 0.91
A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening. J Mol Diagn (2006) 0.91
Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity. Mol Immunol (2007) 0.90
Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly. Biochim Biophys Acta (2007) 0.89
Regulation of the human HBA genes by KLF4 in erythroid cell lines. Br J Haematol (2010) 0.89
The unsolved puzzle of neuropathogenesis in glutaric aciduria type I. Mol Genet Metab (2011) 0.88
The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease. J Gastroenterol (2006) 0.88
Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH. Eur J Med Genet (2010) 0.87
Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I. PLoS One (2013) 0.87
Allan-Herndon-Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels. Eur J Med Genet (2013) 0.87
Chronic inflammatory demyelinating polyneuropathy as a possible novel component of autoimmune poly-endocrine-candidiasis-ectodermal dystrophy. Eur J Pediatr (2008) 0.87
Klf1 affects DNase II-alpha expression in the central macrophage of a fetal liver erythroblastic island: a non-cell-autonomous role in definitive erythropoiesis. Mol Cell Biol (2011) 0.86
Trisomy 8 mosaicism in a patient born to a mother with 47,XXX. Am J Med Genet A (2003) 0.86