Saeid Sadeghian
10PUBLICATIONS
94CO-AUTHORS
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Publications (10)
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|Jun 11, 2025
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.Maureen Jacob, Heike Kölbel, Philip Harrer
|Feb 17, 2025
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.Avinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan
|Jun 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.Juan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison
|Feb 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.Lucia Laugwitz, Fubo Cheng, Stephan C Collins
|Dec 21, 2023
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf
|Sep 15, 2023
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.Hashem Almousa, Sara A Lewis, Somayeh Bakhtiari
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Frequent Collaborators
8 joint publications
Henry Houlden
7 joint publications
Reza Maroofian
5 joint publications
Mina Zamani
5 joint publications
Stephanie Efthymiou
3 joint publications
Fowzan Sami Alkuraya
2 joint publications
Mariasavina Severino
2 joint publications
Maha S Zaki
2 joint publications
Giovanni Zifarelli
2 joint publications
Emmanuel Roze
2 joint publications
Dana Marafi
