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European Journal of Human Genetics : EJHG|January 28, 2022
Leave no one behind: inclusion of alpha-1 antitrypsin deficiency patients in COVID-19 vaccine trialsChengliang Yang, Hedi Zhao, Scott J Tebbutt
European Journal of Human Genetics : EJHG|May 5, 2019
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new casesPatrick R Blackburn, Cinthya J Zepeda-Mendoza, Teresa M Kruisselbrink, et al.
European Journal of Human Genetics : EJHG|May 5, 2019
Specific phenotype semantics facilitate gene prioritization in clinical exome sequencingSwati Tomar, Raman Sethi, Poh San Lai
European Journal of Human Genetics : EJHG|April 10, 2019
Evaluation of telephone genetic counselling to facilitate germline BRCA1/2 testing in women with high-grade serous ovarian cancerErin Tutty, Lara Petelin, Joanne McKinley, et al.
European Journal of Human Genetics : EJHG|August 24, 2018
Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriersLogan C Walker, Louise Marquart, John F Pearson, et al.
European Journal of Human Genetics : EJHG|June 1, 2019
Attitudes of blood donors to their sample and data donation for biobankingVera Raivola, Karoliina Snell, Ilpo Helén, et al.
European Journal of Human Genetics : EJHG|October 28, 2021
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrumAnge-Line Bruel, Antonio Vitobello, Isabelle Thiffault, et al.
European Journal of Human Genetics : EJHG|November 2, 2021
Development and use of the Australian reproductive genetic carrier screening decision aidEmily King, Jane Halliday, Alison D Archibald, et al.
European Journal of Human Genetics : EJHG|February 8, 2022
The case for screening in early life for 'non-treatable' disorders: ethics, evidence and proportionality. A report from the Health Council of the NetherlandsShona Kalkman, Wybo Dondorp
European Journal of Human Genetics : EJHG|February 8, 2022
Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panelsNihat Bugra Agaoglu, Busra Unal, Ozlem Akgun Dogan, et al.
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