Institute for Maternal and Child Health “Burlo Garofolo”, Italy
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🌟 Summary
Dr. Maria Teresa Bonati is a dedicated Consultant in Medical Genetics at the Institute for Maternal and Child Health “Burlo Garofolo” in Trieste, Italy. With extensive expertise in neurogenetics and autism spectrum disorders, she has contributed significantly to the field through innovative research and collaboration with esteemed institutions.
🎓 Education
Dr. Bonati holds a Medical Doctor degree and a PhD in Neurology, Psychiatry, and Neurogenetics from the University of Genoa. She is trained in administering ADI-R and ADOS scales for autism diagnosis, with certifications from the Sick Children Hospital in Toronto and Campus Biomedico in Rome.
👩⚕️ Professional Experience
Dr. Bonati serves as a Medical Doctor at the Medical Genetics CS of the IRCCS Burlo Garofolo and is a free contract lecturer for the School of Specialization in Medical Genetics. Her experience includes attending the Department of Medical Genetics at Catholic University of Leuven and participating in the European Dysmorphology Group’s annual meetings.
🔬 Research Interests
Dr. Bonati’s research focuses on genetic underpinnings of neurodevelopmental disorders, particularly autism and epilepsy. She has led numerous research projects and published extensively, with notable contributions to the understanding of genetic variants associated with various syndromes and disorders.
📚 Selected Publications
Dr. Bonati’s work has been published in high-impact journals, detailing genetic studies related to conditions such as autosomal dominant nocturnal frontal lobe epilepsy, restless legs syndrome, and autism spectrum disorders. Her citation index reflects her significant impact in the field.
Notable Publications
A Novel KIDINS220 Pathogenic Variant Associated with the Syndromic Spastic Paraplegia SINO: An Expansion of the Brain Malformation Spectrum and a Literature Review
Authors: Maria Teresa Bonati, Cristina Baldoli, Jacopo Taurino, Daniela Marchetti, Lidia Larizza, Palma Finelli, Maria Iascone
Journal: Genes
Year: 2024
Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review
Authors: Maria Teresa Bonati, Agnese Feresin, Paolo Prontera, Paola Michieletto, Valeria Gambacorta, Giampietro Ricci, Eva Orzan
Journal: Genes
Year: 2024
Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny
Authors: Pierpaola Tannorella, Luciano Calzari, Cecilia Daolio, Ester Mainini, Alessandro Vimercati, Davide Gentilini, Fiorenza Soli, Annalisa Pedrolli, Maria Teresa Bonati, Lidia Larizza et al.
Journal: Clinical Epigenetics
Year: 2022
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective
Authors: Romina Romaniello, Chiara Gagliardi, Patrizia Desalvo, Livio Provenzi, Roberta Battini, Enrico Bertini, Maria Teresa Bonati, Marilena Briguglio, Stefano D’Arrigo, Maria Teresa Dotti et al.
Journal: Disability and Rehabilitation
Year: 2022
Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype
Authors: Francesco Saettini, Grazia Fazio, Maria Teresa Bonati, Daniele Moratto, Valentina Massa, Elisabetta Di Fede, Silvia Castiglioni, Daniela Marchetti, Marco Chiarini, Alessandra Sottini et al.
Journal: American Journal of Medical Genetics Part A
Year: 2022