Related Experiment Video

Updated: Aug 3, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.7K

Studying ultra-rare variants in STX1A uncovers a novel neurodevelopmental disorder

Esmeralda Villavicencio Gonzalez1,2, Ryan S Dhindsa3,4

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Esmeralda.villavicencio@bcm.edu.

European Journal of Human Genetics : EJHG
|April 7, 2023
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

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

Published on: August 15, 2019

9.8K
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

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

Published on: June 15, 2011

25.9K

Related Experiment Videos

Last Updated: Aug 3, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.7K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

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

Published on: August 15, 2019

9.8K
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

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

Published on: June 15, 2011

25.9K

Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

102.5K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.5K
Pleiotropy01:33

Pleiotropy

40.7K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.7K

Articles linked to this work by shared authors, journal, and citation graph.

Local ancestry-informed rare variant burden testing improves gene discovery in admixed populations.

medRxiv : the preprint server for health sciences·2026

Functional divergence of Capicua isoforms explains differential tissue vulnerability in neurological disease.

Genes & development·2026

Resolving human neuronal herpesvirus reactivation via petabase-scale association studies.

bioRxiv : the preprint server for biology·2026

Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes.

Nature·2026

Rare heterozygous missense variants in VSX2 are associated with retinal detachment.

PLoS genetics·2026

Population-scale sequencing resolves determinants of persistent EBV DNA.

Nature·2026

Prevalence of BRCA1/2 variants in an Ovarian Cancer Cohort: outcomes from a Nationwide Testing Program.

European journal of human genetics : EJHG·2026

Utility of Face2Gene's DeepGestalt and D-Score applications in paediatric neurodevelopmental disorders in South Africa.

European journal of human genetics : EJHG·2026

Why is family disclosure of genetic risk so difficult? A collaborative analysis of 685 rare-disease patient experiences.

European journal of human genetics : EJHG·2026

Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.

European journal of human genetics : EJHG·2026

Holding the story, holding the professional: a pilot study of genetic counselling supervision in Portugal.

European journal of human genetics : EJHG·2026

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

European journal of human genetics : EJHG·2026

A de novo 1.62 Mb deletion at 2q34 with nonpenetrant neurodevelopmental phenotype at 12 months.

Psychiatric genetics·2026

Case Report: novel mutations in SMARCA4 cause Coffin-Siris syndrome type 4 with autism spectrum disorder without visual impairment in one patient.

Frontiers in genetics·2026

Analysis of Genetic Factors in a Family With Short Stature.

Molecular genetics & genomic medicine·2026

The Importance of Familial Co-segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease.

American journal of medical genetics. Part A·2026

Value of Knowing the Risk of Developing a Neurodegenerative Disease: A Discrete Choice Experiment.

PharmacoEconomics·2026

Allele-specific expression modulates the immunological and cis-regulatory landscape of Parkinson's Disease.

Computers in biology and medicine·2026
See all related articles
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies
Jove
Visualize
Contact Us