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Therapeutic Advances in Rare Disease
|
May 17, 2023
Emerging roles and opportunities for rare disease patient advocacy groups
Amy M Patterson, Megan O'Boyle, Grace E VanNoy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 16, 2025
Ten years of exome sequencing and reanalysis among racial, ethnic, and ancestral groups: The importance of equitable reanalysis access
Andrew Giles, Kimberly Zayhowski, Maggie Ruderman, et al.
Journal of Pediatric Neurology : JPN
|
March 14, 2024
DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia
Alexander S Wang, Gabrielle Lemire, Grace E VanNoy, et al.
Pediatrics
|
January 3, 2019
Challenging the Current Recommendations for Carrier Testing in Children
Grace E VanNoy, Casie A Genetti, Amy L McGuire, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 3, 2024
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci
Laurel Hiatt, Ben Weisburd, Egor Dolzhenko, et al.
American Journal of Medical Genetics. Part A
|
January 20, 2018
Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome
Bianca Quiñones-Pérez, Grace E VanNoy, Meghan C Towne, et al.
Journal of Autoimmunity
|
September 26, 2017
Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene
Mindy S Lo, Meghan Towne, Grace E VanNoy, et al.
Genome Medicine
|
July 2, 2025
Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing
Jennifer Herrera-Mullar, Carolyn Horton, Amybeth Weaver, et al.
Genome Medicine
|
March 27, 2025
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci
Laurel Hiatt, Ben Weisburd, Egor Dolzhenko, et al.
Genetics in Medicine Open
|
March 9, 2026
RNA-guided clarity: The potential for resolving variant uncertainty in clinical exome sequencing
Grace E VanNoy, Catherine Schultz, Brooklynn Gasser, et al.
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of 4
Search research articles
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Showing results (1-10 of 40) with videos related to
Sort By:
Page
of 4
Therapeutic Advances in Rare Disease
|
May 17, 2023
Emerging roles and opportunities for rare disease patient advocacy groups
Amy M Patterson, Megan O'Boyle, Grace E VanNoy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 16, 2025
Ten years of exome sequencing and reanalysis among racial, ethnic, and ancestral groups: The importance of equitable reanalysis access
Andrew Giles, Kimberly Zayhowski, Maggie Ruderman, et al.
Journal of Pediatric Neurology : JPN
|
March 14, 2024
DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia
Alexander S Wang, Gabrielle Lemire, Grace E VanNoy, et al.
Pediatrics
|
January 3, 2019
Challenging the Current Recommendations for Carrier Testing in Children
Grace E VanNoy, Casie A Genetti, Amy L McGuire, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 3, 2024
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci
Laurel Hiatt, Ben Weisburd, Egor Dolzhenko, et al.
American Journal of Medical Genetics. Part A
|
January 20, 2018
Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome
Bianca Quiñones-Pérez, Grace E VanNoy, Meghan C Towne, et al.
Journal of Autoimmunity
|
September 26, 2017
Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene
Mindy S Lo, Meghan Towne, Grace E VanNoy, et al.
Genome Medicine
|
July 2, 2025
Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing
Jennifer Herrera-Mullar, Carolyn Horton, Amybeth Weaver, et al.
Genome Medicine
|
March 27, 2025
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci
Laurel Hiatt, Ben Weisburd, Egor Dolzhenko, et al.
Genetics in Medicine Open
|
March 9, 2026
RNA-guided clarity: The potential for resolving variant uncertainty in clinical exome sequencing
Grace E VanNoy, Catherine Schultz, Brooklynn Gasser, et al.
Page
of 4