Center for Integrative Brain Research
Research facility
Location:
Seattle, WA,
United States (USA) (US)
ISNI: 0000 0004 0465 9144
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders (2023)
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, et al.
Journal article
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling (2022)
Holtz AM, Vancoil R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, et al.
Journal article
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain (2021)
Liu S, Aldinger KA, Cheng CV, Kiyama T, Dave M, McNamara HK, Zhao W, et al.
Journal article
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing (2020)
Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, et al.
Journal article
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures (2019)
Horn S, Au M, Basel-Salmon L, Bayrak-Toydemir P, Chapin A, Cohen L, Elting MW, et al.
Journal article
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder (2019)
Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, et al.
Journal article