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Brain : a Journal of Neurology|October 21, 2017
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophySteffen Syrbe, Frederike L Harms, Elena Parrini, et al.
Genome Medicine|March 23, 2017
Lessons learned from additional research analyses of unsolved clinical exome casesMohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, et al.
American Journal of Human Genetics|August 6, 2024
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorderMarie Morimoto, Eunjin Ryu, Benjamin J Steger, et al.
Cancer Treatment Reviews|April 3, 2025
EORTC consensus recommendations on the optimal management of colorectal cancer liver metastasesGiacomo Bregni, Richard Adams, Reto Bale, et al.
Neurology|September 16, 2024
Frequency and Longitudinal Course of Behavioral and Neuropsychiatric Symptoms in Participants With Genetic Frontotemporal DementiaSonja Schönecker, Francisco J Martinez-Murcia, Jannis Denecke, et al.
Cell|March 17, 2023
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegenerationSima Khazaei, Carol C L Chen, Augusto Faria Andrade, et al.
Neurology|January 27, 2026
Patterns and Trajectories of Behavioral and Neuropsychiatric Symptoms in Frontotemporal Dementia and Primary Progressive AphasiaLena Marth, Francisco J Martinez-Murcia, Juan-Manuel Górriz-Sáez, et al.
Neurology|July 5, 2023
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in <i>STXBP1</i>Kim M Thalwitzer, Jan H Driedger, Julie Xian, et al.
Brain : a Journal of Neurology|July 10, 2018
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cellsDavor Lessel, Christina Gehbauer, Nuria C Bramswig, et al.
American Journal of Human Genetics|May 21, 2024
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivityTassja Kalm, Claudia Schob, Hanna Völler, et al.
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