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Human Mutation|February 16, 2022
The impact of GeneMatcher on international data sharing and collaborationAda Hamosh, Elizabeth Wohler, Renan Martin, et al.
American Journal of Medical Genetics. Part A|December 12, 2023
De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complexAngie C Jelin, Elizabeth Wohler, Renan Martin, et al.
Ophthalmic Genetics|January 18, 2017
PROM1 gene variations in Brazilian patients with macular dystrophyMariana Vallim Salles, Fabiana Louise Motta, Elton Dias da Silva, et al.
American Journal of Medical Genetics. Part A|March 8, 2026
VariantMatcher: Phenotypic and Genomic Data Sharing to Facilitate Variant Classification and Disease Gene DiscoveryDarine Villela, Marcelo Szeremeta, Joselito Sobreira, et al.
The Lancet. Neurology|June 17, 2026
Spontaneous spinal CSF leaks: a rare variant exome sequencing study and functional analysisCassie A Parks, Mukti Singh, Elizabeth Wohler, et al.
Molecular Vision|August 11, 2018
Variants in the ABCA4 gene in a Brazilian population with Stargardt diseaseMariana Vallim Salles, Fabiana Louise Motta, Renan Martin, et al.
Orphanet Journal of Rare Diseases|August 19, 2021
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence dataElizabeth Wohler, Renan Martin, Sean Griffith, et al.
Cancers|July 2, 2021
Germline ERBB2/HER2 Coding Variants Are Associated with Increased Risk of Myeloproliferative NeoplasmsEvan M Braunstein, Hang Chen, Felicia Juarez, et al.
Human Mutation|February 22, 2022
Variant-level matching for diagnosis and discovery: Challenges and opportunitiesEliete da S Rodrigues, Sean Griffith, Renan Martin, et al.
Plos Genetics|December 8, 2022
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndromeSarah R Poll, Renan Martin, Elizabeth Wohler, et al.
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