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Cancer Research|August 29, 2025
TNG260 is a Small-Molecule CoREST Inhibitor that Sensitizes STK11-Mutant Tumors to Anti-PD-1 ImmunotherapyLeanne G Ahronian, Soumyadip Sahu, Minjie Zhang, et al.HGG Advances|January 20, 2022
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variabilityChaofan Zhang, Angad Jolly, Brian J Shayota, et al.American Journal of Medical Genetics. Part A|February 14, 2018
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndromeYuri A Zarate, Constance L Smith-Hicks, Carol Greene, et al.Human Mutation|July 17, 2015
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype CorrelationKitiwan Rojnueangnit, Jing Xie, Alicia Gomes, et al.European Journal of Human Genetics : EJHG|October 25, 2024
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlationsAngela Peron, Felice D'Arco, Kimberly A Aldinger, et al.American Journal of Medical Genetics. Part A|June 28, 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanismsManinder Kaur, Justin Blair, Batsal Devkota, et al.Human Mutation|October 10, 2019
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1Magdalena Koczkowska, Tom Callens, Yunjia Chen, et al.Biorxiv : the Preprint Server for Biology|June 26, 2025
Assigning Targetable Molecular Pathways to Transdiagnostic Subgroups Across Autism and Related Neurodevelopmental DisordersJacob Ellegood, Antoine Beauchamp, Yohan Yee, et al.Pageof 168