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Frontiers in Pediatrics
|
March 8, 2021
Genetic Testing in Neurodevelopmental Disorders
Juliann M Savatt, Scott M Myers
American Journal of Medical Genetics. Part A
|
March 5, 2021
Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax
Brenda Finucane, Juliann M Savatt, Hermela Shimelis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 7, 2023
Response to van Riel et al
Juliann M Savatt, Matthew T Oetjens, Scott M Myers, et al.
Biorxiv : the Preprint Server for Biology
|
December 16, 2024
One-Size-Fits-Many: Antisense oligonucleotides for rescuing splicing mutations in hotspot exons
Chaorui Duan, Stephen Rong, Luke Buerer, et al.
Journal of Genetic Counseling
|
November 14, 2017
Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities
Heather Mae Rocha, Juliann M Savatt, Erin Rooney Riggs, et al.
Genes
|
April 27, 2024
Expansion of the Genotypic and Phenotypic Spectrum of <i>ASH1L</i>-Related Syndromic Neurodevelopmental Disorder
Ineke Cordova, Alyssa Blesson, Juliann M Savatt, et al.
HGG Advances
|
February 7, 2022
Clinical validation of genomic functional screen data: Analysis of observed <i>BRCA1</i> variants in an unselected population cohort
Kelly M Schiabor Barrett, Max Masnick, Kathryn E Hatchell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 19, 2021
Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry
Juliann M Savatt, Danielle R Azzariti, David H Ledbetter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 5, 2023
Low adenoma burden in unselected patients with a pathogenic APC variant
Rachel Schwiter, Heather Rocha, Alicia Johns, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 16, 2025
Single Antisense Oligonucleotides Correct Diverse Splicing Mutations in Hotspot Exons
Chaorui Duan, Stephen Rong, Luke Buerer, et al.
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of 4
Search research articles
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Showing results (1-10 of 37) with videos related to
Sort By:
Page
of 4
Frontiers in Pediatrics
|
March 8, 2021
Genetic Testing in Neurodevelopmental Disorders
Juliann M Savatt, Scott M Myers
American Journal of Medical Genetics. Part A
|
March 5, 2021
Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax
Brenda Finucane, Juliann M Savatt, Hermela Shimelis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 7, 2023
Response to van Riel et al
Juliann M Savatt, Matthew T Oetjens, Scott M Myers, et al.
Biorxiv : the Preprint Server for Biology
|
December 16, 2024
One-Size-Fits-Many: Antisense oligonucleotides for rescuing splicing mutations in hotspot exons
Chaorui Duan, Stephen Rong, Luke Buerer, et al.
Journal of Genetic Counseling
|
November 14, 2017
Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities
Heather Mae Rocha, Juliann M Savatt, Erin Rooney Riggs, et al.
Genes
|
April 27, 2024
Expansion of the Genotypic and Phenotypic Spectrum of <i>ASH1L</i>-Related Syndromic Neurodevelopmental Disorder
Ineke Cordova, Alyssa Blesson, Juliann M Savatt, et al.
HGG Advances
|
February 7, 2022
Clinical validation of genomic functional screen data: Analysis of observed <i>BRCA1</i> variants in an unselected population cohort
Kelly M Schiabor Barrett, Max Masnick, Kathryn E Hatchell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 19, 2021
Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry
Juliann M Savatt, Danielle R Azzariti, David H Ledbetter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 5, 2023
Low adenoma burden in unselected patients with a pathogenic APC variant
Rachel Schwiter, Heather Rocha, Alicia Johns, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 16, 2025
Single Antisense Oligonucleotides Correct Diverse Splicing Mutations in Hotspot Exons
Chaorui Duan, Stephen Rong, Luke Buerer, et al.
Page
of 4