Laura Crisponi

发表

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia

Gonçalo R. Abecasis, Stuart H. Orkin, Ramaiah Nagaraja, 2008, Proceedings of the National Academy of Sciences.

A Genome-Wide Association Scan on the Levels of Markers of Inflammation in Sardinians Reveals Associations That Underpin Its Complex Regulation

Paul Scheet, Gonçalo R. Abecasis, James Strait, 2012, PLoS genetics.

Common variants in the GDF5-UQCC region are associated with variation in human height

Shah Ebrahim, Debbie A Lawlor, Yoav Ben-Shlomo, 2008, Nature Genetics.

A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

Flavia Palombo, Marco Seri, Tommaso Pippucci, 2013, PloS one.

Common variants at ten loci modulate the QT interval duration in the QTSCD Study

Christian Gieger, Thomas Meitinger, Raimund Erbel, 2009, Nature Genetics.

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Christian Gieger, Alex Doney, Inês Barroso, 2010, Nature Genetics.

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.

Robert Kleta, Bernd Wollnik, G. Usala, 2007, American journal of human genetics.

Variants in MTNR1B influence fasting glucose levels

Inês Barroso, Paul Scheet, Nicole Soranzo, 2009, Nature Genetics.

Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.

Ramaiah Nagaraja, David Schlessinger, Andrea Maschio, 2008, American journal of human genetics.

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

Christian Gieger, Inês Barroso, Peter Kraft, 2010, Nature Genetics.