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Sara Loddo

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features
2013 · Agatino Battaglia, Viola Doccini, et al. · European Journal of Paediatric Neurology · 205
A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial Partial Lipodystrophy
2014 · Sali M.K. Farhan, John F. Robinson, et al. · Canadian Journal of Cardiology · 79
Copy number variants in autism spectrum disorders
2019 · Stefano Vicari, Eleonora Napoli, et al. · Progress in Neuro-Psychopharmacology and Biological Psychiatry · 75
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?
2009 · Laura Bernardini, Viola Alesi, et al. · European Journal of Human Genetics · 66
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The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes
2018 · Lorena Travaglini, Chiara Aiello, et al. · Neurogenetics · 61
A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum
2015 · Valentina Guida, Lorenzo Sinibaldi, et al. · American Journal of Medical Genetics Part A · 57
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions
2013 · Alessandro Ferraris, Laura Bernardini, et al. · Orphanet Journal of Rare Diseases · 55
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Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients
2011 · Marilena Briguglio, Lorenzo Pinelli, et al. · Orphanet Journal of Rare Diseases · 49
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Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
2018 · DDD study, Rosalind Verheije, et al. · European Journal of Human Genetics · 45
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Mutations in Extracellular Matrix GenesNID1andLAMC1Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles
2013 · Benjamin W. Darbro, Vinit B. Mahajan, et al. · Human Mutation · 44
Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome
2019 · Kyle W. Davis, Moises Serrano, et al. · International Journal of Molecular Sciences · 31
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Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients
2020 · Francesca Amati, Chiara Vancheri, et al. · Heliyon · 30
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Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications
2018 · Kate Wolfe, Andrew McQuillin, et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 28
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Homozygous deletion in TUSC3 causing syndromic intellectual disability: A new patient
2013 · Sara Loddo, Valentina Parisi, et al. · American Journal of Medical Genetics Part A · 22
TBX2 gene duplication associated with complex heart defect and skeletal malformations
2010 · Francesca Clementina Radio, Laura Bernardini, et al. · American Journal of Medical Genetics Part A · 22
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
2021 · Bradley Bowles, Alejandro Ferrer, et al. · American Journal of Medical Genetics Part A · 20
Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p
2012 · Armando Grossi, Alessia Palma, et al. · Gene · 19
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression
2019 · Maria Teresa Bonati, Chiara Castronovo, et al. · Neurogenetics · 18
Congenital heart defects in the recurrent 2q13 deletion syndrome
2021 · M.C. Digilio, M.L. Dentici, et al. · European Journal of Medical Genetics · 16
Atypical 7q11.23 deletions excluding ELN gene result in Williams–Beuren syndrome craniofacial features and neurocognitive profile
2020 · Viola Alesi, Sara Loddo, et al. · American Journal of Medical Genetics Part A · 16
Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange–like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome
2018 · Viola Alesi, Maria Lisa Dentici, et al. · Annals of Human Genetics · 16
Reassessment of the 12q15 deletion syndrome critical region
2017 · Viola Alesi, Sara Loddo, et al. · European Journal of Medical Genetics · 13
Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements
2023 · Viola Alesi, Silvia Genovese, et al. · Biomolecules · 11
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PPP1R21 ‐ related syndromic intellectual disability: Report of an adult patient and review
2020 · Sara Loddo, Viola Alesi, et al. · American Journal of Medical Genetics Part A · 11
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome
2019 · Viola Alesi, Sara Loddo, et al. · American Journal of Medical Genetics Part A · 11
Works count: 56
Citation count: 1,144
H-index: 18
I10-index: 27
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