Diana Wellesley

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

Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening

Maria Loane, Joan K. Morris, Marie‐Claude Addor et al. · European Journal of Human Genetics · 2012 · 370 citations · Full text

Public Health, Genetics, Maternal Health +17

Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study

M McGivern, Kate Best, Judith Rankin et al. · Archives of Disease in Childhood Fetal & Neonatal · 2014 · 312 citations

Life Sciences, Genetics, Epidemiology +13

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