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

David A Sweetser

4PUBLICATIONS

41CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)Medical infection agents (incl. prions)Gene expression (incl. microarray and other genome-wide approaches)

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (4)

Sort by Publication Date:

|Dec 11, 2023

Allelic strengths of encephalopathy-associated <i>UBA5</i> variants correlate between in vivo and in vitro assays.

Xueyang Pan, Albert N Alvarez, Mengqi Ma

|May 11, 2022

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.

Lauren O'Grady, Samantha A Schrier Vergano, Trevor L Hoffman

|Apr 13, 2021

Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.

Sonja Neuser, Barbara Brechmann, Gali Heimer

|Jan 26, 2019

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.

Sandra Jansen, Ilse M van der Werf, A Micheil Innes

Pageof 1

Frequent Collaborators

1 joint publications

Sandra Jansen

1 joint publications

Ilse M van der Werf

1 joint publications

A Micheil Innes

1 joint publications

Anke van Dijck

1 joint publications

Charu Kaiwar

1 joint publications

Tuula Rinne

1 joint publications

Corrado Romano

1 joint publications

Kristian Tveten

1 joint publications

R Frank Kooy

1 joint publications

Sonja Neuser

Frequent Collaborators

1 joint publications

Sandra Jansen

1 joint publications

Ilse M van der Werf

1 joint publications

A Micheil Innes

1 joint publications

Anke van Dijck

Top Related Videos

A Scalable, Cell-Based Method for the Functional Assessment of <em>Ube3a</em> Variants

A Scalable, Cell-Based Method for the Functional Assessment of <em>Ube3a</em> Variants

Published on : Oct 10, 2022

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

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on : Dec 01, 2017

See more related videos

Top Related Videos

A Scalable, Cell-Based Method for the Functional Assessment of <em>Ube3a</em> Variants

A Scalable, Cell-Based Method for the Functional Assessment of <em>Ube3a</em> Variants

Published on : Oct 10, 2022

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

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on : Dec 01, 2017

See more related videos