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Brain : a Journal of Neurology|December 18, 2024
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorderGabriel N Aughey, Elisa Cali, Reza Maroofian, et al.American Journal of Human Genetics|February 7, 2024
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestaltJames L Shepherdson, Katie Hutchison, Dilan Wellalage Don, et al.HGG Advances|February 1, 2024
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.Nature Genetics|March 30, 2026
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathyAdam Jackson, Alexander J M Blakes, Bader Alhaddad, et al.Neurology|June 10, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic featuresSimona Balestrini, Mathieu Milh, Claudia Castiglioni, et al.American Journal of Human Genetics|August 31, 2022
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomalyQuentin Thomas, Marialetizia Motta, Thierry Gautier, et al.The Lancet. Neurology|July 19, 2025
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case seriesJ Robert Harkness, John H McDermott, Shea Marsden, et al.Brain : a Journal of Neurology|September 8, 2022
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsyKari A Mattison, Gilles Tossing, Fred Mulroe, et al.Nature Communications|July 11, 2023
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disordersCarolina Gracia-Diaz, Yijing Zhou, Qian Yang, et al.American Journal of Human Genetics|May 22, 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing projectAlistair T Pagnamenta, Jing Yu, Susan Walker, et al.Pageof 17