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Stefania Gimelli | Researchclopedia

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Stefania Gimelli

University Hospital of Geneva

95

Works

4,902

Citations

33

h-index

61

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Chromosomal and Genetic Variations Congenital heart defects research

Affiliations

University of Geneva2008–2018

University of Pavia2005–2010

Istituto Giannina Gaslini2005–2011

Laboratoire de Génie Électrique et Électronique de Paris2011–2011

Hôpital Beau-Séjour2011–2011

Top Works

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford,Andrew J. Sharp,et al.

2008807 citations

Genetics and Neurodevelopmental Disorders

Genomics and Rare Diseases

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont,Alexandre Reymond,et al.

2011476 citations

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Manuela De Gregori,Roberto Ciccone,et al.

2007355 citations

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

María Clara Bonaglia,Roberto Giorda,et al.

2011229 citations

Characterization of a recurrent 15q24 microdeletion syndrome

Andrew J. Sharp,Rebecca R. Selzer,et al.

2007189 citations

Modelling and rescuing neurodevelopmental defect of <scp>D</scp> own syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

Youssef Hibaoui,Iwona Grad,et al.

2013164 citations

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

Elena Rossi,Mariluce Riegel,et al.

2007155 citations

Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

María Clara Bonaglia,Roberto Ciccone,et al.

2008147 citations

13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients

Lucia Ballarati,Elena Rossi,et al.

2007144 citations