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Sarah A Paolucci

Showing results (1-10 of 5) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 3, 2025
Real-world effects of using gnomAD 4.1.0 and All of Us population reference data sets on reporting of variants of uncertain significanceRunjun D Kumar, Sarah A Paolucci, Brittany Williams, et al.
Brain : a Journal of Neurology|May 16, 2024
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial featuresTamar Harel, Camille Spicher, Elisabeth Scheer, et al.
American Journal of Human Genetics|May 19, 2023
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletionsRia Schönauer, Wenjun Jin, Christin Findeisen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 3, 2023
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a changeHeidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, et al.
Nature Communications|November 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionGhayda M Mirzaa, Keqin Yan, Raissa Relator, et al.
Pageof 1

Showing results (1-10 of 5) with videos related to

Sort By:
Pageof 1
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 3, 2025
Real-world effects of using gnomAD 4.1.0 and All of Us population reference data sets on reporting of variants of uncertain significanceRunjun D Kumar, Sarah A Paolucci, Brittany Williams, et al.
Brain : a Journal of Neurology|May 16, 2024
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial featuresTamar Harel, Camille Spicher, Elisabeth Scheer, et al.
American Journal of Human Genetics|May 19, 2023
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletionsRia Schönauer, Wenjun Jin, Christin Findeisen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 3, 2023
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a changeHeidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, et al.
Nature Communications|November 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionGhayda M Mirzaa, Keqin Yan, Raissa Relator, et al.
Pageof 1