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International Journal of Neonatal Screening
|
November 22, 2022
Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders
Natalie A Boychuk, Niamh S Mulrooney, Nicole R Kelly, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation
|
March 13, 2024
Measuring health-related quality of life in children with suspected genetic conditions: validation of the PedsQL proxy-report versions
Hadley Stevens Smith, Michael Leo, Katrina Goddard, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation
|
May 14, 2024
Physician and informal care use explained by the Pediatric Quality of Life Inventory (PedsQL) in children with suspected genetic disorders
Asem Berkalieva, Nicole R Kelly, Ashley Fisher, et al.
Clinical and Translational Science
|
December 8, 2023
The motivation and process for developing a consortium-wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient care
Hannah G Hoban, Tiffany A Yip, Joanna C Chau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 11, 2018
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants
Melissa P Wasserstein, Michele Caggana, Sean M Bailey, et al.
Molecular Genetics and Metabolism Reports
|
January 4, 2024
ScreenPlus: A comprehensive, multi-disorder newborn screening program
Nicole R Kelly, Joseph J Orsini, Aaron J Goldenberg, et al.
Biorxiv : the Preprint Server for Biology
|
January 30, 2023
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing
Stephanie A Felker, James Mj Lawlor, Susan M Hiatt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 28, 2023
Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program
Asem Berkalieva, Nicole R Kelly, Ashley Fisher, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 10, 2023
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing
Stephanie A Felker, James M J Lawlor, Susan M Hiatt, et al.
Genetics in Medicine Open
|
October 13, 2025
Patient and providers' perspectives on using the GUÍA digital tool to enhance genomic results disclosure
Jacqueline A Odgis, Sabrina A Suckiel, Laura Golfinopoulos, et al.
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Search research articles
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Showing results (1-10 of 22) with videos related to
Sort By:
Page
of 3
International Journal of Neonatal Screening
|
November 22, 2022
Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders
Natalie A Boychuk, Niamh S Mulrooney, Nicole R Kelly, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation
|
March 13, 2024
Measuring health-related quality of life in children with suspected genetic conditions: validation of the PedsQL proxy-report versions
Hadley Stevens Smith, Michael Leo, Katrina Goddard, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation
|
May 14, 2024
Physician and informal care use explained by the Pediatric Quality of Life Inventory (PedsQL) in children with suspected genetic disorders
Asem Berkalieva, Nicole R Kelly, Ashley Fisher, et al.
Clinical and Translational Science
|
December 8, 2023
The motivation and process for developing a consortium-wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient care
Hannah G Hoban, Tiffany A Yip, Joanna C Chau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 11, 2018
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants
Melissa P Wasserstein, Michele Caggana, Sean M Bailey, et al.
Molecular Genetics and Metabolism Reports
|
January 4, 2024
ScreenPlus: A comprehensive, multi-disorder newborn screening program
Nicole R Kelly, Joseph J Orsini, Aaron J Goldenberg, et al.
Biorxiv : the Preprint Server for Biology
|
January 30, 2023
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing
Stephanie A Felker, James Mj Lawlor, Susan M Hiatt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 28, 2023
Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program
Asem Berkalieva, Nicole R Kelly, Ashley Fisher, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 10, 2023
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing
Stephanie A Felker, James M J Lawlor, Susan M Hiatt, et al.
Genetics in Medicine Open
|
October 13, 2025
Patient and providers' perspectives on using the GUÍA digital tool to enhance genomic results disclosure
Jacqueline A Odgis, Sabrina A Suckiel, Laura Golfinopoulos, et al.
Page
of 3