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Brain : a Journal of Neurology|June 30, 2022
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletionJeffrey D Calhoun, Miriam C Aziz, Hannah C Happ, et al.
Clinical Genetics|April 9, 2026
Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion SyndromeAmber S E van Oirsouw, Tzung-Chien Hsieh, Martijn Koetsier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiencyLeyla Akin, Karine Rizzoti, Louise C Gregory, et al.
Genes|February 25, 2022
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of PatientsAlessandro Orsini, Andrea Santangelo, Francesca Bravin, et al.
Seizure|June 23, 2020
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlationsAndrea Accogli, Mariasavina Severino, Antonella Riva, et al.
American Journal of Medical Genetics. Part A|July 31, 2021
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literatureSulagna Tina Kushary, Anya Revah-Politi, Subit Barua, et al.
Frontiers in Neurology|January 21, 2026
Natural history of familial cerebral cavernous malformations: the CCM_Italia cohort studySilvia Lanfranconi, Elisa Scola, Deborah Novelli, et al.
American Journal of Human Genetics|March 13, 2024
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic featuresXueyang Pan, Alice M Tao, Shenzhao Lu, et al.
Brain : a Journal of Neurology|July 19, 2022
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypesMarcello Scala, Masashi Nishikawa, Hidenori Ito, et al.
Human Mutation|March 21, 2020
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathyGemma L Carvill, Katherine L Helbig, Candace T Myers, et al.
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