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European Journal of Human Genetics : EJHG|October 5, 2022
Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impactPonghatai Boonsimma, Chupong Ittiwut, Wuttichart Kamolvisit, et al.European Journal of Human Genetics : EJHG|October 3, 2022
Lessons learned during the process of reporting individual genomic results to participants of a population-based biobankLiis Leitsalu, Anu Reigo, Marili Palover, et al.European Journal of Human Genetics : EJHG|October 3, 2022
Assessing the digenic model in rare disorders using population sequencing dataNerea Moreno-Ruiz, , Oscar Lao, et al.European Journal of Human Genetics : EJHG|June 2, 2011
Rapid aneuploidy detection or karyotyping? Ethical reflectionAntina de Jong, Wybo J Dondorp, Daniëlle R M Timmermans, et al.European Journal of Human Genetics : EJHG|July 14, 2011
iPS cells to model CDKL5-related disordersMariangela Amenduni, Roberta De Filippis, Aaron Y L Cheung, et al.European Journal of Human Genetics : EJHG|June 23, 2011
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic functionAlex R Paciorkowski, Liu Lin Thio, Jill A Rosenfeld, et al.European Journal of Human Genetics : EJHG|May 19, 2011
Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromesJennifer Boyle, Malcolm Hawkins, David E Barton, et al.European Journal of Human Genetics : EJHG|June 10, 2011
Gene and genetic diagnostic method patent claims: a comparison under current European and US patent lawIsabelle Huys, Geertrui Van Overwalle, Gert MatthijsEuropean Journal of Human Genetics : EJHG|January 8, 2015
Maximising the efficiency of clinical screening programmes: balancing predictive genetic testing with a right not to knowAgnes G Schuurman, Dorina M van der Kolk, Marian A Verkerk, et al.Pageof 564