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European Journal of Human Genetics | ResearchHub - ResearchHub

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European Journal of Human Genetics

Springer Science and Business Media LLC · ISSN 1018-4813

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Researchers publishing here

20 linked researchers

Nadeem Qureshi Isabella-Anna Lazaridi T. S. Hall Helen Hanson James Fasham Emma L. Baple Michael N. Weedon Caroline Fiona Wright Leigh M. Jackson Himanshu Goel Athanasios Bakalakos Douglas Ewan Cannie Marion van Vugt Imogen Kate Heenan Zeinab M. Hassanein Juan Pablo Kaski Julien Maraval Petros Syrris Jo Leonardi-Bee Jeremiah Donoghue

Research in this journal

Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012–2022)2026 · Julien Maraval, Céline Dampfhoffer, Antoine Journé · 0 citations

Healthcare professionals’ views on expanding newborn screening with or without genomics in France: Results of the SeDeN-p2 study2026 · Camille Level, Frédéric Huet, Dominique Salvi · 0 citations

Gene-specific reclassification patterns of variants in hypertrophic cardiomyopathy2026 · Athanasios Bakalakos, Rebeca Lorca, Alexandros Protonotarios · 0 citations

Health inequalities in precision medicine: A systematic review2026 · Zeinab M. Hassanein, Manpreet Bains, Rupinder Kaur Bajwa · 0 citations

Patient harms during delayed access to clinical genetics services. A systematic literature review and synthesis without meta-analysis (SWiM)

2026 · Michaela Cormack, Janet Long, Alan Ma · 0 citations

Penetrance, effect and causal attribution: which number should be reported for recurrent copy-number variants?2026 · Himanshu Goel · 0 citations

Prevalence and penetrance of heritable retinoblastoma in two adult population cohorts: implications for genomic newborn screening2026 · Isabella-Anna Lazaridi, T. S. Hall, Helen Hanson · 0 citations