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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2022
Hospital-level variation in genetic testing in children's hospitals' neonatal intensive care units from 2016 to 2021
Katharine Press Callahan, Joshua Radack, Monica H Wojcik, et al.
Clinical Case Reports
|
January 26, 2023
A novel <i>RAD51</i> variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies
Shelby Geilmann, Rachel Solstad, Rachel Palmquist, et al.
Children (Basel, Switzerland)
|
June 28, 2023
Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants
Joseph Reiley, Pablo Botas, Christine E Miller, et al.
Journal of Community Genetics
|
December 19, 2022
Evaluating visual imagery for participant understanding of research concepts in genomics research
Erin Rothwell, Naomi O Riches, Erin Johnson, et al.
Research Square
|
April 17, 2026
Provider Perceptions of the Impact of Rapid Whole Genome Sequencing on Care and Management
Rachel Palmquist, Chelsea Solorzano, Brian J Shayota, et al.
Genome Medicine
|
March 17, 2023
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning
Bennet Peterson, Edgar Javier Hernandez, Charlotte Hobbs, et al.
NPJ Genomic Medicine
|
June 12, 2025
MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission
Bennet Peterson, Edwin F Juarez, Barry Moore, et al.
Journal of Clinical and Translational Science
|
December 1, 2021
Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program
Sabrina Malone Jenkins, Rachel Palmquist, Ashley L Kapron, et al.
Pediatric Research
|
February 4, 2022
Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics
Rachel Palmquist, Sabrina Malone Jenkins, Dawn Bentley, et al.
Cold Spring Harbor Molecular Case Studies
|
November 15, 2022
Rapid genome sequencing identifies a novel de novo <i>SNAP25</i> variant for neonatal congenital myasthenic syndrome
Hayley M Reynolds, Ting Wen, Andrew Farrell, et al.
Page
of 3
Search research articles
Search
Showing results (11-20 of 22) with videos related to
Sort By:
Page
of 3
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2022
Hospital-level variation in genetic testing in children's hospitals' neonatal intensive care units from 2016 to 2021
Katharine Press Callahan, Joshua Radack, Monica H Wojcik, et al.
Clinical Case Reports
|
January 26, 2023
A novel <i>RAD51</i> variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies
Shelby Geilmann, Rachel Solstad, Rachel Palmquist, et al.
Children (Basel, Switzerland)
|
June 28, 2023
Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants
Joseph Reiley, Pablo Botas, Christine E Miller, et al.
Journal of Community Genetics
|
December 19, 2022
Evaluating visual imagery for participant understanding of research concepts in genomics research
Erin Rothwell, Naomi O Riches, Erin Johnson, et al.
Research Square
|
April 17, 2026
Provider Perceptions of the Impact of Rapid Whole Genome Sequencing on Care and Management
Rachel Palmquist, Chelsea Solorzano, Brian J Shayota, et al.
Genome Medicine
|
March 17, 2023
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning
Bennet Peterson, Edgar Javier Hernandez, Charlotte Hobbs, et al.
NPJ Genomic Medicine
|
June 12, 2025
MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission
Bennet Peterson, Edwin F Juarez, Barry Moore, et al.
Journal of Clinical and Translational Science
|
December 1, 2021
Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program
Sabrina Malone Jenkins, Rachel Palmquist, Ashley L Kapron, et al.
Pediatric Research
|
February 4, 2022
Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics
Rachel Palmquist, Sabrina Malone Jenkins, Dawn Bentley, et al.
Cold Spring Harbor Molecular Case Studies
|
November 15, 2022
Rapid genome sequencing identifies a novel de novo <i>SNAP25</i> variant for neonatal congenital myasthenic syndrome
Hayley M Reynolds, Ting Wen, Andrew Farrell, et al.
Page
of 3