Astrid Weber

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Jenny Lord, Dominic McMullan, Ruth Y. Eberhardt et al. · The Lancet · 2019 · 708 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faùndes, William G. Newman, Laura Bernardini et al. · The American Journal of Human Genetics · 2017 · 278 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of <i>EHMT1</i> haploinsufficiency to the core phenotype

Tjitske Kleefstra, W. A. van Zelst‐Stams, Willy M. Nillesen et al. · Journal of Medical Genetics · 2009 · 258 citations

Life Sciences, Genetics, Molecular Genetics +15

A biallelic mutation in <i>IL6ST</i> encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

Tobias Schwerd, Stephen R.F. Twigg, Dominik Aschenbrenner et al. · The Journal of Experimental Medicine · 2017 · 199 citations · Full text

Life Sciences, Immunology, Molecular Genetics +17