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

Cheryl Cytrynbaum

8PUBLICATIONS

43CO-AUTHORS

Social epidemiologyGene mappingPhotonics, optoelectronics and optical communicationsEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseases

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (8)

Sort by Publication Date:

|Jan 09, 2025

Like milk on the stove: Healthcare professionals navigating uncertainty when caring for families with 22q11DS.

Sophie Ayoub, Eva De Clercq, Cheryl Cytrynbaum

|Mar 01, 2024

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak

|Nov 10, 2023

Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.

Leanne de Kock, Alexanne Cuillerier, Meredith Gillespie

|Dec 08, 2022

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

Ashish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy

|Dec 13, 2019

Epigenetic signatures in overgrowth syndromes: Translational opportunities.

Cheryl Cytrynbaum, Sanaa Choufani, Rosanna Weksberg

|Oct 12, 2019

A large data resource of genomic copy number variation across neurodevelopmental disorders.

Mehdi Zarrei, Christie L Burton, Worrawat Engchuan

Pageof 2

Frequent Collaborators

3 joint publications

Rosanna Weksberg

2 joint publications

Ryan K C Yuen

2 joint publications

Stephen W Scherer

1 joint publications

Edwin J Young

1 joint publications

Edward J Higginbotham

1 joint publications

Jeffrey R MacDonald

1 joint publications

Brett Trost

1 joint publications

Giovanna Pellecchia

1 joint publications

Rohan V Patel

1 joint publications

Christian R Marshall

Frequent Collaborators

3 joint publications

Rosanna Weksberg

2 joint publications

Ryan K C Yuen

2 joint publications

Stephen W Scherer

1 joint publications

Edwin J Young

Top Related Videos

Involving Individuals with Developmental Language Disorder and Their Parents/Carers in Research Priority Setting

Involving Individuals with Developmental Language Disorder and Their Parents/Carers in Research Priority Setting

Published on : Jun 06, 2020

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

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on : Nov 05, 2019

See more related videos

Top Related Videos

Involving Individuals with Developmental Language Disorder and Their Parents/Carers in Research Priority Setting

Involving Individuals with Developmental Language Disorder and Their Parents/Carers in Research Priority Setting

Published on : Jun 06, 2020

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

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on : Nov 05, 2019

See more related videos