Nationwide Children's Hospital

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (2024) Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, et al. Journal article Long interspersed nuclear elements safeguard neural progenitors from precocious differentiation (2024) Toda T, Bedrosian TA, Schafer ST, Cuoco MS, Linker SB, Ghassemzadeh S, Mitchell L, et al. Journal article Clinical practice guidelines for the care of girls and women with Turner syndrome Proceedings from the 2023 Aarhus International Turner Syndrome Meeting (2024) Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, Maciel-Guerra AT, et al. Journal article Correction to: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (European Journal of Human Genetics, (2024), 10.1038/s41431-024-01560-8) (2024) Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, et al. Journal article, Erratum Bosutinib in Resistant and Intolerant Pediatric Patients With Chronic Phase Chronic Myeloid Leukemia: Results From the Phase I Part of Study ITCC054/COG AAML1921. (2024) Brivio E, Pennesi E, Willemse ME, Huitema AD, Jiang Y, Van Tinteren HD, Van Der Velden VH, et al. Journal article BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations (2024) Peron A, D’Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, et al. Journal article Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy (2023) Kiryluk K, Sanchez-Rodriguez E, Zhou XJ, Zanoni F, Liu L, Mladkova N, Khan A, et al. Journal article De novo variants in ATP2B1 lead to neurodevelopmental delay (2022) Rahimi MJ, Urban N, Wegler M, Sticht H, Schaefer M, Popp B, Gaunitz F, et al. Journal article Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort (2022) van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, et al. Journal article Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease (2021) Audain E, Wilsdon A, Breckpot J, Izarzugaza JM, Fitzgerald TW, Kahlert AK, Sifrim A, et al. Journal article