Sara Loddo - Concepedia

Author

Sara Loddo

Istituti di Ricovero e Cura a Carattere Scientifico ORCID

Also Known As

Christèle Dubourg, S Loddo, S. Loddo, Sara Loddo

Publications

1.1K

Citations

H-Index

Concepts

All Affiliations

Istituti di Ricovero e Cura a Carattere Scientifico Bambino Gesù Children's Hospital Casa Sollievo della Sofferenza Sapienza University of Rome Fondazione Stella Maris

About

Sara Loddo is an author at Istituti di Ricovero e Cura a Carattere Scientifico specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	532
2	Molecular Genetics	2	2	117
3	Education	1	1	206
4	Social Sciences	1	1	31
5	Immunology	1	1	18

Sara Loddo

Publications

845

Citations

H-Index

Page 1

	Year	Citations
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, Laura Bernardini, European Journal of Paediatric Neurology Neurodevelopmental DisordersIntellectual ImpairmentPsychiatryMedicineGenetics	2013	206
A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial Partial Lipodystrophy Sali M.K. Farhan, John F. Robinson, Adam D. McIntyre, Canadian Journal of Cardiology Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseasePathology	2014	71
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? Laura Bernardini, Viola Alesi, Sara Loddo, European Journal of Human Genetics Intellectual ImpairmentNeuroimaging BiomarkersPsychiatryPsychiatric GeneticsSchizophrenia	2009	67
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, Fabrizia Stregapede, Neurogenetics Rare Hsp-related GenesRare DiseasesGenetic DisorderNext-generation SequencingGenetics	2018	62
A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum Valentina Guida, Lorenzo Sinibaldi, Mario Pagnoni, American Journal of Medical Genetics Part A	2015	56
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions Alessandro Ferraris, Laura Bernardini, Vesna Sabolic Avramovska, Orphanet Journal of Rare Diseases	2013	55
Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients Marilena Briguglio, Lorenzo Pinelli, Lucio Giordano, Orphanet Journal of Rare Diseases	2011	49
Mutations in Extracellular Matrix Genes<i>NID1</i>and<i>LAMC1</i>Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles Benjamin W. Darbro, Vinit B. Mahajan, Lokesh Gakhar, Human Mutation GeneticsPathologyMolecular GeneticsDisease Gene IdentificationMendelian Disorder	2013	46
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications Kate Wolfe, Andrew McQuillin, Viola Alesi, American Journal of Medical Genetics Part B Neuropsychiatric Genetics GeneticsDisease Gene IdentificationGenomicsPsychologySocial Sciences	2018	31
Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients Francesca Amati, Chiara Vancheri, Andrea Latini, Heliyon	2020	31

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