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European Journal of Human Genetics : EJHG|December 6, 2019
A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorderFederico Tessadori, Atteeq U Rehman, Jacques C Giltay, et al.
European Journal of Human Genetics : EJHG|December 22, 2022
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathiesElla Vintschger, Dennis Kraemer, Pascal Joset, et al.
European Journal of Human Genetics : EJHG|January 4, 2023
Participant perspective on the recall-by-genotype research approach: a mixed-method embedded study with participants of the CHRIS studyRoberta Biasiotto, Maria Kösters, Katharina Tschigg, et al.
European Journal of Human Genetics : EJHG|June 8, 2022
Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working GroupMonika Morak, Marta Pineda, Alexandra Martins, et al.
European Journal of Human Genetics : EJHG|June 21, 2022
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspectiveConstance F Wells, Guilaine Boursier, Kevin Yauy, et al.
European Journal of Human Genetics : EJHG|June 28, 2022
A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndromeSuzanna Lindsey-Temple, Matt Edwards, Verena Rickassel, et al.
European Journal of Human Genetics : EJHG|June 29, 2022
Host genomics of SARS-CoV-2 infectionClaire Redin, Christian W Thorball, Jacques Fellay
European Journal of Human Genetics : EJHG|November 29, 2022
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disabilityDavid I Francis, Zornitza Stark, Ingrid E Scheffer, et al.
European Journal of Human Genetics : EJHG|November 29, 2022
Examination of a novel expression-based gene-SNP annotation strategy to identify tissue-specific contributions to heritability in multiple traitsTravis J Mize, Luke M Evans
European Journal of Human Genetics : EJHG|November 30, 2022
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohortPhilippine Garret, Martin Chevarin, Antonio Vitobello, et al.
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