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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 12, 2019
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
Siddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, et al.
JAMA Network Open
|
March 17, 2025
Genomic Screening at a Single Health System
Juliann M Savatt, Melissa A Kelly, Amy C Sturm, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 22, 2013
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Robert C Green, Jonathan S Berg, Wayne W Grody, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 12, 2017
CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Robert C Green, Jonathan S Berg, Wayne W Grody, et al.
Frontiers in Genetics
|
June 13, 2022
A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System
Laney K Jones, Natasha T Strande, Evan M Calvo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 11, 2025
Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing
Marissa W Mitchel, Matthew Oetjens, Alexander S F Berry, et al.
Journal of Autism and Developmental Disorders
|
May 22, 2016
Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication
LeeAnne Green Snyder, Debra D'Angelo, Qixuan Chen, et al.
JAMA
|
February 2, 2021
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy
Andrés Moreno-De-Luca, Francisca Millan, Denis R Pesacreta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 18, 2016
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
Sarah S Kalia, Kathy Adelman, Sherri J Bale, et al.
American Journal of Medical Genetics. Part A
|
June 7, 2008
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2
William B Dobyns, Ghayda Mirzaa, Susan L Christian, et al.
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Search research articles
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Showing results (41-50 of 68) with videos related to
Sort By:
Page
of 7
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 12, 2019
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
Siddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, et al.
JAMA Network Open
|
March 17, 2025
Genomic Screening at a Single Health System
Juliann M Savatt, Melissa A Kelly, Amy C Sturm, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 22, 2013
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Robert C Green, Jonathan S Berg, Wayne W Grody, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 12, 2017
CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Robert C Green, Jonathan S Berg, Wayne W Grody, et al.
Frontiers in Genetics
|
June 13, 2022
A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System
Laney K Jones, Natasha T Strande, Evan M Calvo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 11, 2025
Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing
Marissa W Mitchel, Matthew Oetjens, Alexander S F Berry, et al.
Journal of Autism and Developmental Disorders
|
May 22, 2016
Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication
LeeAnne Green Snyder, Debra D'Angelo, Qixuan Chen, et al.
JAMA
|
February 2, 2021
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy
Andrés Moreno-De-Luca, Francisca Millan, Denis R Pesacreta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 18, 2016
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
Sarah S Kalia, Kathy Adelman, Sherri J Bale, et al.
American Journal of Medical Genetics. Part A
|
June 7, 2008
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2
William B Dobyns, Ghayda Mirzaa, Susan L Christian, et al.
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of 7