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European Journal of Human Genetics : EJHG|August 23, 2022
Parents' understanding of genome and exome sequencing for pediatric health conditions: a systematic reviewJessica Gereis, Kate Hetherington, Lauren Ha, et al.
European Journal of Human Genetics : EJHG|February 7, 2023
Comparing 2D and 3D representations for face-based genetic syndrome diagnosisJordan J Bannister, Matthias Wilms, J David Aponte, et al.
European Journal of Human Genetics : EJHG|March 20, 2023
Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scoresMaria Siermann, Ophelia Valcke, Joris Robert Vermeesch, et al.
European Journal of Human Genetics : EJHG|March 27, 2023
Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screeningMelissa Raspa, Oksana Kutsa, Sara M Andrews, et al.
European Journal of Human Genetics : EJHG|May 6, 2021
Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing lossAndré S Bueno, Kelly Nunes, Alex M M Dias, et al.
European Journal of Human Genetics : EJHG|May 28, 2020
Development and validation of a measure of comprehension of genomic screening-negative results (CoG-NR)Gail E Henderson, Molly Ewing, Kristine J Kuczynski, et al.
European Journal of Human Genetics : EJHG|May 24, 2020
BBMRI-ERIC's contributions to research and knowledge exchange on COVID-19Petr Holub, Lukasz Kozera, Francesco Florindi, et al.
European Journal of Human Genetics : EJHG|February 13, 2023
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathiesMaartje Pennings, Rowdy P P Meijer, Monique Gerrits, et al.
European Journal of Human Genetics : EJHG|February 9, 2023
Johann Gregor Mendel: the victory of statistics over human imaginationMartina Raudenska, Tomas Vicar, Jaromir Gumulec, et al.
European Journal of Human Genetics : EJHG|February 16, 2023
Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathySadegheh Haghshenas, Aidin Foroutan, Pratibha Bhai, et al.
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