European Journal of Human Genetics

Journal Abbreviation: EUR J HUM GENET
ISSN: 1018-4813
eISSN: 1476-5438
Publisher: Nature Publishing Group: Open Access Hybrid Model Option B

Publications (87)

close-button

Types of publications

Journal article
Unpublished / Preprint

Publication year

From
To

Abstract

The EDELIFE clinical trial, the first investigation of a signalling molecule to treat in utero a human developmental genetic disorder (2024) Schneider H, Hadj-Rabia S, Faschingbauer F, Bodemer C, Grange DK, Guillén-Navarro E, Tadini G, Clarke A Journal article, Original article 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 Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (European Journal of Human Genetics, (2024), 32, 8, (928-937), 10.1038/s41431-024-01610-1) (2024) Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, et al. Journal article, Erratum Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci (2024) Baumann A, Ruckert C, Meier C, Hutschenreiter T, Remy R, Schnur B, Döbel M, et al. Journal article Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (2024) Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, 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 Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder (2024) Albuainain F, Shi Y, Lor-Zade S, Hüffmeier U, Pauly M, Reis A, Faivre L, et al. Journal article Epigenomic and phenotypic characterization of DEGCAGS syndrome (2024) Karimi K, Weis D, Aukrust I, Hsieh TC, Horackova M, Paulsen J, Mendoza Londono R, 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 Further delineation of the SCAF4-associated neurodevelopmental disorder (2024) Schmid CM, Gregor A, Ruiz A, Manso Bazús C, Herman I, Ammouri F, Kotzaeridou U, et al. Journal article