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

Susan Walker

12PUBLICATIONS

171CO-AUTHORS

NeurogeneticsGenetics not elsewhere classifiedNeurology and neuromuscular diseasesGene mappingGene 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 (12)

Sort by Publication Date:

|Mar 30, 2026

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Adam Jackson, Alexander J M Blakes, Bader Alhaddad

|Feb 17, 2026

Author Correction: Complex de novo structural variants are an underestimated cause of rare disorders.

Hyunchul Jung, Tsun-Po Yang, Susan Walker

|Nov 27, 2025

Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.

Antonio Mollica, Safia Omer, Georgiana Forguson

|Nov 03, 2025

Complex de novo structural variants are an underestimated cause of rare disorders.

Hyunchul Jung, Tsun-Po Yang, Susan Walker

|Apr 14, 2025

A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and <i>SRRM2</i> Haploinsufficiency.

Alistair T Pagnamenta, Jing Yu, Tracey A Willis

|Jan 06, 2025

Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants.

Bushra Haque, David Cheerie, Amy Pan

Pageof 2

Frequent Collaborators

3 joint publications

Mark J Caulfield

3 joint publications

Matthew Hurles

3 joint publications

Loukas Moutsianas

2 joint publications

Erola Pairo-Castineira

2 joint publications

Lucija Klaric

2 joint publications

Andrew D Bretherick

2 joint publications

Konrad Rawlik

2 joint publications

Jian Yang

2 joint publications

Sean Keating

2 joint publications

Yang Wu

Frequent Collaborators

3 joint publications

Mark J Caulfield

3 joint publications

Matthew Hurles

3 joint publications

Loukas Moutsianas

2 joint publications

Erola Pairo-Castineira

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

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on : Jun 15, 2011

Purification of Tubulin with Controlled Posttranslational Modifications and Isotypes from Limited Sources by Polymerization-Depolymerization Cycles

Purification of Tubulin with Controlled Posttranslational Modifications and Isotypes from Limited Sources by Polymerization-Depolymerization Cycles

Published on : Nov 05, 2020

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

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on : Jun 15, 2011

Purification of Tubulin with Controlled Posttranslational Modifications and Isotypes from Limited Sources by Polymerization-Depolymerization Cycles

Purification of Tubulin with Controlled Posttranslational Modifications and Isotypes from Limited Sources by Polymerization-Depolymerization Cycles

Published on : Nov 05, 2020

See more related videos