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Sara Loddo | Researchclopedia

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Sara Loddo

Bambino Gesù Children's Hospital ORCID

54

Works

1,128

Citations

18

h-index

24

i10-index

Research Topics

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

Affiliations

Thomas Jefferson University2009–2009

Casa Sollievo della Sofferenza2010–2015

Copenhagen University Hospital2018–2018

Rigshospitalet2018–2018

Laboratory of Molecular Genetics2018–2018

Top Works

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features

Agatino Battaglia,Viola Doccini,et al.

2013206 citations

Genomics and Rare Diseases

Chromosomal and Genetic Variations

A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial Partial Lipodystrophy

Sali M.K. Farhan,John F. Robinson,et al.

201472 citations

Copy number variants in autism spectrum disorders

Stefano Vicari,Eleonora Napoli,et al.

201970 citations

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

Laura Bernardini,Viola Alesi,et al.

200967 citations

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes

Lorena Travaglini,Chiara Aiello,et al.

201862 citations

A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum

Valentina Guida,Lorenzo Sinibaldi,et al.

201556 citations

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

Alessandro Ferraris,Laura Bernardini,et al.

201355 citations

Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients

Marilena Briguglio,Lorenzo Pinelli,et al.

201149 citations

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

DDD study,Rosalind Verheije,et al.

201849 citations