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European Journal of Human Genetics : EJHG|February 2, 2024
The value of genomic testing in severe childhood speech disordersYan Meng, Stephanie Best, David J Amor, et al.
European Journal of Human Genetics : EJHG|January 28, 2024
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cellsZain Awamleh, Sanaa Choufani, Wendy Wu, et al.
European Journal of Human Genetics : EJHG|May 22, 2024
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart diseaseKaitlin J Stanley, Kelsey J Kalbfleisch, Olivia M Moran, et al.
European Journal of Human Genetics : EJHG|May 28, 2024
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosaKae R Whiting, Lonneke Haer-Wigman, Ralph J Florijn, et al.
European Journal of Human Genetics : EJHG|May 17, 2024
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patientsLaura M Watts, Marta Bertoli, Tania Attie-Bitach, et al.
European Journal of Human Genetics : EJHG|May 13, 2024
Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohortSophia Hammer-Hansen, Ulrik Stoltze, Emil Bartels, et al.
European Journal of Human Genetics : EJHG|June 5, 2024
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference NetworkAleš Maver, Katja Lohmann, Fran Borovečki, et al.
European Journal of Human Genetics : EJHG|June 21, 2024
Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score lociAlexandra Baumann, Christian Ruckert, Christoph Meier, et al.
European Journal of Human Genetics : EJHG|April 27, 2024
Negotiating severity behind the scenes: prenatal testing in GermanyTamar Nov-Klaiman, Hilary Bowman-Smart, Ruth Horn
European Journal of Human Genetics : EJHG|May 25, 2024
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics servicesStephanie Best, Zoe Fehlberg, Christopher Richards, et al.
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