Elke de Boer
8PUBLICATIONS
87CO-AUTHORS
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Publications (8)
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|Feb 15, 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges
|Oct 27, 2023
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.Wouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt
|Aug 07, 2023
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.Alexander J M Dingemans, Max Hinne, Kim M G Truijen
|Jun 29, 2023
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.Alan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb
|Feb 22, 2023
History and highlights of the teratological collection in the Narrenturm, Vienna (Austria).Lucas L Boer, Susanne Gerit Kircher, Helga Rehder
|Oct 15, 2020
Evidence for 28 genetic disorders discovered by combining healthcare and research data.Joanna Kaplanis, Kaitlin E Samocha, Laurens Wiel
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Frequent Collaborators
2 joint publications
Andrew Green
2 joint publications
Francis Ramond
2 joint publications
Minna Kraatari-Tiri
2 joint publications
Alix Paulet
2 joint publications
Wayne Lam
2 joint publications
Juliette Piard
2 joint publications
Rosalyn Jewell
2 joint publications
Christian Gilissen
2 joint publications
Philippe M Campeau
2 joint publications
Lisenka E L M Vissers
