Maria Antonietta Mencarelli
Azienda Ospedaliera Universitaria Senese(IT)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Autism Spectrum Disorder Research, Congenital heart defects research
Most-Cited Works
- → FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome(2008)432 cited
- → Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study(2021)210 cited
- → Evidence of digenic inheritance in Alport syndrome(2015)159 cited
- → Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene(2009)145 cited
- → Novel FOXG1 mutations associated with the congenital variant of Rett syndrome(2009)108 cited
- → Private inherited microdeletion/microduplications: Implications in clinical practice(2008)106 cited
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