Giuseppe Pilia
National Institutes of Health(US)
Publications by Year
Research Areas
Genetic Syndromes and Imprinting, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, RNA modifications and cancer, Chromosomal and Genetic Variations, CRISPR and Genetic Engineering
Most-Cited Works
- → The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome(2001)974 cited
- → Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome(1996)763 cited
- → Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development(2004)579 cited
- → Heritability of Cardiovascular and Personality Traits in 6,148 Sardinians(2006)563 cited
- → X-linked situs abnormalities result from mutations in ZIC3(1997)416 cited
- → Foxl2 is required for commitment to ovary differentiation(2005)358 cited
- → Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28(2000)256 cited
- → IRAK-M Is Involved in the Pathogenesis of Early-Onset Persistent Asthma(2007)181 cited
- → Genes and translocations involved in POF(2002)161 cited
- → Simpson-Golabi-Behmel syndrome: Genotype/phenotype analysis of 18 affected males from 7 unrelated families(1996)136 cited