Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Elke de Boer

8PUBLICATIONS

87CO-AUTHORS

Medical mycologyForensic epidemiologyNutritional epidemiologyGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (8)

Sort by Publication Date:

|Jun 24, 2024

Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe).

Kornelia Ellwanger, Julie A Brill, Elke de Boer

|Apr 02, 2024

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges

|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

Pageof 2

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

Frequent Collaborators

2 joint publications

Andrew Green

2 joint publications

Francis Ramond

2 joint publications

Minna Kraatari-Tiri

2 joint publications

Alix Paulet

Top Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

See more related videos

Top Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

See more related videos