Alice Traversa | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Exploring non-coding genetic variability in ACE2: Functional annotation and in vitro validation of regulatory variants	GENE	2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline	AMERICAN JOURNAL OF HUMAN GENETICS	2024
Long-term consequences of reduced availability and compensatory supplementation of sialylated HMOs on cognitive capabilities	FRONTIERS IN CELLULAR NEUROSCIENCE	2023
Additional lesions identified by genomic microarrays are associated with an inferior outcome in low-risk chronic lymphocytic leukaemia patients	BRITISH JOURNAL OF HAEMATOLOGY	2023
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis	DIAGNOSTICS	2022
MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants	HUMAN MUTATION	2022
Potassium Channel {KCNH}1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis	MOLECULAR NEUROBIOLOGY	2022
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations	BONE	2021
Sialylated human milk oligosaccharides program cognitive development through a non-genomic transmission mode	MOLECULAR PSYCHIATRY	2021
Exposure to 3′sialyllactose‐poor milk during lactation impairs cognitive capabilities in adulthood	NUTRIENTS	2021
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism	PARKINSONISM & RELATED DISORDERS	2020
Genomic and physiological resilience in extreme environments are associated with a secure attachment style	TRANSLATIONAL PSYCHIATRY	2020
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance	MOLECULAR GENETICS & GENOMIC MEDICINE	2020
Small 7p22.3 microdeletion: case report of Snx8 haploinsufficiency and neurological findings	EUROPEAN JOURNAL OF MEDICAL GENETICS	2020
Increased availability of the human milk oligosaccharide sialyl(alpha2,3)lactose during lactation promotes the development of executive functions	48th meeting of EBBS abstract book	2019
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation.	MOLECULAR GENETICS & GENOMIC MEDICINE	2019
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease	NEURODEGENERATIVE DISEASES	2019
Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies	ARCHIVES OF ORAL BIOLOGY	2018
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration	NEUROLOGY	2018
Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies	AMERICAN JOURNAL OF HUMAN GENETICS	2015