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 (81)
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
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
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
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
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women (2023)
Figlioli G, Billaud A, Ahearn TU, Antonenkova NN, Becher H, Beckmann M, Behrens S, et al.
Journal article
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort (2023)
Zanoni P, Steindl K, Sticht H, Oneda B, Joset P, Ivanovski I, Horn AH, et al.
Journal article
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations (2023)
Reutter HM
Journal article
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies (2022)
Vintschger E, Kraemer D, Joset P, Horn A, Rauch A, Sticht H, Bachmann-Gagescu R
Journal article
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy (2022)
Luppe J, Sticht H, Lecoquierre F, Goldenberg A, Gorman KM, Molloy B, Agolini E, et al.
Journal article
Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study (2022)
Popp B, Ekici AB, Knaup K, Schneider K, Uebe S, Park J, Bafna V, et al.
Journal article