Stefania Gimelli - Concepedia

Author

Stefania Gimelli

University Hospital of Geneva

Also Known As

Gimelli, S., Gimelli, Stefania, S Gimelli, S. Gimelli, Stefania Gimelli

Publications

4.9K

Citations

H-Index

Concepts

All Affiliations

University Hospital of Geneva Istituto Giannina Gaslini University of Pavia University of Geneva University of Genoa

About

Stefania Gimelli is an author at University Hospital of Geneva specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	17	27	1.4K
2	Public Health	3	3	85
3	Health Sciences	2	2	70
4	Natural Sciences	2	2	24
5	Education	1	1	21

Stefania Gimelli

Publications

4.4K

Citations

H-Index

Page 1

	Year	Citations
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes Heather C. Mefford, Andrew J. Sharp, Carl Baker, New England Journal of Medicine	2008	803
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Nature Gene DosageGeneticsHuman PolymorphismMolecular GeneticsChromosome 16P11.2	2011	474
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients Manuela De Gregori, Roberto Ciccone, Pamela Magini, Journal of Medical Genetics	2007	354
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome María Clara Bonaglia, Roberto Giorda, Silvana Beri, PLoS Genetics	2011	223
Characterization of a recurrent 15q24 microdeletion syndrome Andrew J. Sharp, Rebecca R. Selzer, Joris A. Veltman, Human Molecular Genetics	2007	188
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, Audrey Letourneau, EMBO Molecular Medicine	2013	164
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation Elena Rossi, Mariluce Riegel, Jole Messa, Journal of Medical Genetics	2007	155
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, Giorgio Gimelli, European Journal of Human Genetics Genetic DisorderGeneticsClinical GeneticsChromosome 6Q16Pathology	2008	146
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports Laura Bernardini, Stefania Gimelli, Cristina Gervasini, Orphanet Journal of Rare Diseases	2009	141
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation Renata Bocciardi, Roberto Giorda, Jens Buttgereit, Human Mutation	2007	130

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