PubRank

Laura Crisponi

Author PubWeight™ 84.05‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet 2010 17.89
2 Variants in MTNR1B influence fasting glucose levels. Nat Genet 2008 10.85
3 Common variants in the GDF5-UQCC region are associated with variation in human height. Nat Genet 2008 7.31
4 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
5 Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet 2009 4.10
6 Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet 2010 3.37
7 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
8 The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts. PLoS Genet 2007 3.21
9 Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development. Hum Mol Genet 2004 2.15
10 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet 2012 2.12
11 Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. Hum Mol Genet 2009 1.87
12 Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function. Am J Hum Genet 2008 1.77
13 IRAK-M is involved in the pathogenesis of early-onset persistent asthma. Am J Hum Genet 2007 1.77
14 A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One 2012 1.72
15 Foxl2 is required for commitment to ovary differentiation. Hum Mol Genet 2005 1.38
16 Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling. Dev Biol 2002 1.24
17 Genes and translocations involved in POF. Am J Med Genet 2002 1.23
18 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
19 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
20 Neuroticism, depressive symptoms, and serum BDNF. Psychosom Med 2011 0.96
21 Determination and stability of sex. Bioessays 2007 0.95
22 Association of adiposity genetic variants with menarche timing in 92,105 women of European descent. Am J Epidemiol 2013 0.93
23 Determination and stability of gonadal sex. J Androl 2009 0.91
24 A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population. BMC Cancer 2009 0.90
25 Aging of oocyte, ovary, and human reproduction. Ann N Y Acad Sci 2004 0.90
26 Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. Eur J Hum Genet 2011 0.89
27 Reproductive aging-associated common genetic variants and the risk of breast cancer. Breast Cancer Res 2012 0.87
28 SUMOylation of the Forkhead transcription factor FOXL2 promotes its stabilization/activation through transient recruitment to PML bodies. PLoS One 2011 0.86
29 Genetics of serum BDNF: meta-analysis of the Val66Met and genome-wide association study. World J Biol Psychiatry 2011 0.83
30 Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action. Dev Med Child Neurol 2010 0.83
31 The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity. PLoS One 2010 0.82
32 Crisponi syndrome: a new case with additional features and new mutation in CRLF1. Am J Med Genet A 2008 0.81
33 Transcriptional control of ovarian development in somatic cells. Semin Reprod Med 2007 0.79
34 Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome. Hum Mutat 2014 0.79
35 Crisponi syndrome in an Indian patient: a rare differential diagnosis for neonatal tetanus. Am J Med Genet A 2008 0.79
36 A new case series of Crisponi syndrome in a Turkish family and review of the literature. Clin Dysmorphol 2016 0.75
37 Corrigendum: Rare coding variants and X-linked loci associated with age at menarche. Nat Commun 2015 0.75