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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 18, 2007
Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs
Swaroop Aradhya, Athena M Cherry
Molecular Genetics & Genomic Medicine
|
May 29, 2018
Genetics in mainstream medicine: Finally within grasp to influence healthcare globally
Swaroop Aradhya, Robert L Nussbaum
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 1, 2025
Correspondence on "Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries" by Hotakainen et al
Mia J Gruzin, Swaroop Aradhya, Leslie Burnett
American Journal of Medical Genetics. Part A
|
January 29, 2011
De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations
Swaroop Aradhya, Nizar Smaoui, Michael Marble, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 3, 2020
Correspondence on "Is there a duty to reinterpret genetic data? The ethical dimensions" by Appelbaum et al
Nicole Faulkner, Swaroop Aradhya, Kerry W Aradhya, et al.
American Journal of Medical Genetics. Part A
|
June 15, 2007
Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features
Swaroop Aradhya, Melanie A Manning, Alessandra Splendore, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 27, 2019
Response to "The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)"
Robert L Nussbaum, Eden Haverfield, Edward D Esplin, et al.
Data in Brief
|
July 18, 2025
A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screening
Mia J Gruzin, Matthew Hobbs, Sarah Poll, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 25, 2018
Secondary findings on virtual panels: opportunities, challenges, and potential for preventive medicine
Edward D Esplin, Eden Haverfield, Shan Yang, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
June 1, 2026
Ensuring equity in reproductive carrier screening of CFTR with increasing population diversity
Mia J Gruzin, Jaysen Knezovich, Sarah Poll, et al.
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Search research articles
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Showing results (1-10 of 87) with videos related to
Sort By:
Page
of 9
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 18, 2007
Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs
Swaroop Aradhya, Athena M Cherry
Molecular Genetics & Genomic Medicine
|
May 29, 2018
Genetics in mainstream medicine: Finally within grasp to influence healthcare globally
Swaroop Aradhya, Robert L Nussbaum
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 1, 2025
Correspondence on "Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries" by Hotakainen et al
Mia J Gruzin, Swaroop Aradhya, Leslie Burnett
American Journal of Medical Genetics. Part A
|
January 29, 2011
De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations
Swaroop Aradhya, Nizar Smaoui, Michael Marble, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 3, 2020
Correspondence on "Is there a duty to reinterpret genetic data? The ethical dimensions" by Appelbaum et al
Nicole Faulkner, Swaroop Aradhya, Kerry W Aradhya, et al.
American Journal of Medical Genetics. Part A
|
June 15, 2007
Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features
Swaroop Aradhya, Melanie A Manning, Alessandra Splendore, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 27, 2019
Response to "The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)"
Robert L Nussbaum, Eden Haverfield, Edward D Esplin, et al.
Data in Brief
|
July 18, 2025
A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screening
Mia J Gruzin, Matthew Hobbs, Sarah Poll, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 25, 2018
Secondary findings on virtual panels: opportunities, challenges, and potential for preventive medicine
Edward D Esplin, Eden Haverfield, Shan Yang, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
June 1, 2026
Ensuring equity in reproductive carrier screening of CFTR with increasing population diversity
Mia J Gruzin, Jaysen Knezovich, Sarah Poll, et al.
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