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Alessandra Ferrarini | Researchclopedia

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Alessandra Ferrarini

Ospedale San Giovanni Bellinzona ORCID

26

Works

1,564

Citations

12

h-index

12

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders Congenital heart defects research

Affiliations

University of Milan2003–2020

University Hospital of Lausanne2010–2020

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico2020–2020

Ospedale regionale di Lugano2019–2020

Ente Ospedaliero Cantonale2013–2013

Top Works

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Robin Walters,Sébastien Jacquemont,et al.

2010557 citations

Genomics and Rare Diseases

Autism Spectrum Disorder Research

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

Sébastien Jacquemont,Alexandre Reymond,et al.

2011476 citations

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Nathalie Van der Aa,Liesbeth Rooms,et al.

2009218 citations

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’Donnell‐Luria,Lynn Pais,et al.

201998 citations

Cornelia de Lange individuals with new and recurrent <i>SMC1A</i> mutations enhance delineation of mutation repertoire and phenotypic spectrum

Cristina Gervasini,Silvia Russo,et al.

201335 citations

A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf–Hirschhorn syndrome

Marcella Zollino,Rosetta Lecce,et al.

200435 citations

Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study

Gian Paolo Ramelli,Charlotte Silacci,et al.

200826 citations

Sporadic acute benign calf myositis: Systematic literature review

Gioele Capoferri,Gregorio P. Milani,et al.

201820 citations

A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

Christopher B. Jackson,Matthias Bauer,et al.

201517 citations