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Trends in Molecular Medicine|July 16, 2023
TBCK syndrome: a rare multi-organ neurodegenerative diseaseEmily L Durham, Rajesh Angireddy, Aaron Black, et al.Biorxiv : the Preprint Server for Biology|February 14, 2024
NeuroTri2-VISDOT: An open-access tool to harness the power of second trimester human single cell data to inform models of Mendelian neurodevelopmental disordersKelly J Clark, Emily E Lubin, Elizabeth M Gonzalez, et al.Biorxiv : the Preprint Server for Biology|May 25, 2026
A novel mouse model of rare neurodevelopmental disorder, TBCK SyndromeAshley J Melendez-Perez, Emily L Durham, Dana E Layo-Carris, et al.Medrxiv : the Preprint Server for Health Sciences|January 2, 2026
De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neuronsTomoki T Nomakuchi, Alyssa L Rippert, Sabrina A Santos De León, et al.Medrxiv : the Preprint Server for Health Sciences|February 20, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumorsRyan J Corbett, Rebecca S Kaufman, Shelly W McQuaid, et al.HGG Advances|April 17, 2025
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathiesEmily E Lubin, Elizabeth M Gonzalez, Annabel K Sangree, et al.Nature Communications|November 21, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumorsRyan J Corbett, Rebecca S Kaufman, Shelly W McQuaid, et al.Cancer Research|July 8, 2022
FOXR2 Is an Epigenetically Regulated Pan-Cancer Oncogene That Activates ETS Transcriptional CircuitsJessica W Tsai, Paloma Cejas, Dayle K Wang, et al.Nature Communications|February 2, 2022
PPM1D mutations are oncogenic drivers of de novo diffuse midline glioma formationPrasidda Khadka, Zachary J Reitman, Sophie Lu, et al.Nature Communications|June 5, 2019
Neuronal differentiation and cell-cycle programs mediate response to BET-bromodomain inhibition in MYC-driven medulloblastomaPratiti Bandopadhayay, Federica Piccioni, Ryan O'Rourke, et al.Pageof 2