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Genetics in Medicine Open|April 22, 2026
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseasesAnnalaura Torella, Manuela Morleo, Carmine Spampanato, et al.Human Genetics|May 14, 2023
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorderGianluca D'Onofrio, Andrea Accogli, Mariasavina Severino, et al.Science Advances|May 1, 2023
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafishVictoria Patterson, Farid Ullah, Laura Bryant, et al.Neurology. Genetics|June 3, 2022
Epilepsy Course and Developmental Trajectories in <i>STXBP1</i>-DEEGanna Balagura, Julie Xian, Antonella Riva, et al.Frontiers in Cell and Developmental Biology|December 26, 2022
The different clinical facets of <i>SYN1</i>-related neurodevelopmental disordersIlaria Parenti, Elsa Leitão, Alma Kuechler, et al.Brain : a Journal of Neurology|August 12, 2021
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonusSerena Galosi, Ban H Edani, Simone Martinelli, et al.Brain Communications|October 5, 2023
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomaliesAndrea Accogli, Maha S Zaki, Mohammed Al-Owain, et al.Neurology|December 5, 2020
Basal Ganglia Dysmorphism in Patients With Aicardi SyndromeSilvia Masnada, Anna Pichiecchio, Manuela Formica, et al.Nature Communications|January 8, 2024
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiationAndrea Accogli, Saurabh Shakya, Taewoo Yang, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2023
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorderAndrea Accogli, Sheng-Jia Lin, Mariasavina Severino, et al.Pageof 11