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Medrxiv : the Preprint Server for Health Sciences
|
June 22, 2026
Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult Biobanks
Nina B Gold, Hana Zouk, Julie Yeo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 30, 2019
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
Cynthia S Gubbels, Grace E VanNoy, Jill A Madden, et al.
Neurology
|
April 19, 2013
Targeted exome sequencing of suspected mitochondrial disorders
Daniel S Lieber, Sarah E Calvo, Kristy Shanahan, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 8, 2024
Data-driven consideration of genetic disorders for global genomic newborn screening programs
Thomas Minten, Sarah Bick, Sophia Adelson, et al.
American Journal of Human Genetics
|
December 20, 2025
Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population
Jessica I Gold, Yehuda Elkaim, Nina B Gold, et al.
JAMA Network Open
|
May 8, 2023
Perspectives of Rare Disease Experts on Newborn Genome Sequencing
Nina B Gold, Sophia M Adelson, Nidhi Shah, et al.
BMC Medical Genomics
|
January 28, 2026
Designing inclusive newborn sequencing research: insights from parents in underrepresented communities
Maya C Del Rosario, Sheyenne A Walmsley, Barbara W Harrison, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 17, 2024
Diverse Participant Recruitment for Infant Sequencing in the BabySeq Project
Maya C Del Rosario, Sheyenne A Walmsley, Barbara W Harrison, et al.
American Journal of Human Genetics
|
September 17, 2024
The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants
Hadley Stevens Smith, Bethany Zettler, Casie A Genetti, et al.
Cell Reports
|
June 9, 2021
Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates
Melissa J MacPherson, Sarah L Erickson, Drayden Kopp, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 46) with videos related to
Sort By:
Page
of 5
Medrxiv : the Preprint Server for Health Sciences
|
June 22, 2026
Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult Biobanks
Nina B Gold, Hana Zouk, Julie Yeo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 30, 2019
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
Cynthia S Gubbels, Grace E VanNoy, Jill A Madden, et al.
Neurology
|
April 19, 2013
Targeted exome sequencing of suspected mitochondrial disorders
Daniel S Lieber, Sarah E Calvo, Kristy Shanahan, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 8, 2024
Data-driven consideration of genetic disorders for global genomic newborn screening programs
Thomas Minten, Sarah Bick, Sophia Adelson, et al.
American Journal of Human Genetics
|
December 20, 2025
Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population
Jessica I Gold, Yehuda Elkaim, Nina B Gold, et al.
JAMA Network Open
|
May 8, 2023
Perspectives of Rare Disease Experts on Newborn Genome Sequencing
Nina B Gold, Sophia M Adelson, Nidhi Shah, et al.
BMC Medical Genomics
|
January 28, 2026
Designing inclusive newborn sequencing research: insights from parents in underrepresented communities
Maya C Del Rosario, Sheyenne A Walmsley, Barbara W Harrison, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 17, 2024
Diverse Participant Recruitment for Infant Sequencing in the BabySeq Project
Maya C Del Rosario, Sheyenne A Walmsley, Barbara W Harrison, et al.
American Journal of Human Genetics
|
September 17, 2024
The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants
Hadley Stevens Smith, Bethany Zettler, Casie A Genetti, et al.
Cell Reports
|
June 9, 2021
Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates
Melissa J MacPherson, Sarah L Erickson, Drayden Kopp, et al.
Page
of 5