Jove
Visualize
Contact Us
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

Filters

Elizabeth A Werren

Showing results (1-10 of 10) with videos related to

Pageof 1
Sort By:
Human Genetics|July 31, 2020
Identifying adaptive alleles in the human genome: from selection mapping to functional validationElizabeth A Werren, Obed Garcia, Abigail W Bigham
American Journal of Physical Anthropology|July 21, 2016
Quantitative assessment of skin, hair, and iris variation in a diverse sample of individuals and associated genetic variationHeather L Norton, Melissa Edwards, S Krithika, et al.
American Journal of Medical Genetics. Part A|June 20, 2023
A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertoniaElizabeth A Werren, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, et al.
Biorxiv : the Preprint Server for Biology|May 7, 2024
A <i>de novo</i> variant in <i>PAK2</i> detected in an individual with Knobloch type 2 syndromeElizabeth A Werren, Louisa Kalsner, Jessica Ewald, et al.
American Journal of Medical Genetics. Part A|January 29, 2025
Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 VariantElizabeth A Werren, Louisa Kalsner, Jessica M Ewald, et al.
HGG Advances|April 29, 2026
Diagnostic utility of clinical genome reanalysis in rare pediatric disorders using long-read sequencingElizabeth A Werren, Purva Vats, Gabriel E Rech, et al.
HGG Advances|May 14, 2023
<i>De novo</i> variants in <i>GATAD2A</i> in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorderElizabeth A Werren, Alba Guxholli, Natasha Jones, et al.
Brain : a Journal of Neurology|September 18, 2024
Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defectsElizabeth A Werren, Guillermo Rodriguez Bey, Purvi Majethia, et al.
Cell Death & Disease|May 30, 2024
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformationsElizabeth A Werren, Emily R Peirent, Henna Jantti, et al.
Nature Communications|February 22, 2024
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability SyndromeElizabeth A Werren, Geneva R LaForce, Anshika Srivastava, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Human Genetics|July 31, 2020
Identifying adaptive alleles in the human genome: from selection mapping to functional validationElizabeth A Werren, Obed Garcia, Abigail W Bigham
American Journal of Physical Anthropology|July 21, 2016
Quantitative assessment of skin, hair, and iris variation in a diverse sample of individuals and associated genetic variationHeather L Norton, Melissa Edwards, S Krithika, et al.
American Journal of Medical Genetics. Part A|June 20, 2023
A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertoniaElizabeth A Werren, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, et al.
Biorxiv : the Preprint Server for Biology|May 7, 2024
A <i>de novo</i> variant in <i>PAK2</i> detected in an individual with Knobloch type 2 syndromeElizabeth A Werren, Louisa Kalsner, Jessica Ewald, et al.
American Journal of Medical Genetics. Part A|January 29, 2025
Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 VariantElizabeth A Werren, Louisa Kalsner, Jessica M Ewald, et al.
HGG Advances|April 29, 2026
Diagnostic utility of clinical genome reanalysis in rare pediatric disorders using long-read sequencingElizabeth A Werren, Purva Vats, Gabriel E Rech, et al.
HGG Advances|May 14, 2023
<i>De novo</i> variants in <i>GATAD2A</i> in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorderElizabeth A Werren, Alba Guxholli, Natasha Jones, et al.
Brain : a Journal of Neurology|September 18, 2024
Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defectsElizabeth A Werren, Guillermo Rodriguez Bey, Purvi Majethia, et al.
Cell Death & Disease|May 30, 2024
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformationsElizabeth A Werren, Emily R Peirent, Henna Jantti, et al.
Nature Communications|February 22, 2024
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability SyndromeElizabeth A Werren, Geneva R LaForce, Anshika Srivastava, et al.
Pageof 1