Search research articles
Contact Us
Filters
Showing results (11-20 of 21) with videos related to
Page
of 3
Sort By:
Plos Genetics
|
October 9, 2015
Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data
Frederick E Dewey, Megan E Grove, James R Priest, et al.
Journal of Genetic Counseling
|
April 10, 2019
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing
Diane B Zastrow, Jennefer N Kohler, Devon Bonner, et al.
The Journal of Molecular Diagnostics : JMD
|
May 29, 2026
Analytical validation of short-read genome sequencing for diagnostic panel and exome testing
Yao Yang, Nathan A Hammond, Pun Wai Tong, et al.
American Journal of Medical Genetics. Part A
|
March 29, 2019
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review
Akash Kumar, Diane B Zastrow, Elijah J Kravets, et al.
Frontiers in Cardiovascular Medicine
|
August 12, 2025
Identification of candidate cardiomyopathy modifier genes through genome sequencing and RNA profiling
Malene E Lindholm, Sarah Abramowitz, Daryl M Waggott, et al.
Nature Biotechnology
|
March 29, 2022
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing
Sneha D Goenka, John E Gorzynski, Kishwar Shafin, et al.
Nature
|
July 1, 2026
Harmonizing standards and resources for the medical genome
Euan A Ashley, Ash A Alizadeh, Hanae Armitage, et al.
JAMA
|
March 13, 2014
Clinical interpretation and implications of whole-genome sequencing
Frederick E Dewey, Megan E Grove, Cuiping Pan, et al.
Nature Medicine
|
June 5, 2019
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
Laure Frésard, Craig Smail, Nicole M Ferraro, et al.
American Journal of Human Genetics
|
February 27, 2018
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
Monika Oláhová, Wan Hee Yoon, Kyle Thompson, et al.
Page
of 3
Search research articles
Search
Showing results (11-20 of 21) with videos related to
Sort By:
Page
of 3
Plos Genetics
|
October 9, 2015
Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data
Frederick E Dewey, Megan E Grove, James R Priest, et al.
Journal of Genetic Counseling
|
April 10, 2019
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing
Diane B Zastrow, Jennefer N Kohler, Devon Bonner, et al.
The Journal of Molecular Diagnostics : JMD
|
May 29, 2026
Analytical validation of short-read genome sequencing for diagnostic panel and exome testing
Yao Yang, Nathan A Hammond, Pun Wai Tong, et al.
American Journal of Medical Genetics. Part A
|
March 29, 2019
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review
Akash Kumar, Diane B Zastrow, Elijah J Kravets, et al.
Frontiers in Cardiovascular Medicine
|
August 12, 2025
Identification of candidate cardiomyopathy modifier genes through genome sequencing and RNA profiling
Malene E Lindholm, Sarah Abramowitz, Daryl M Waggott, et al.
Nature Biotechnology
|
March 29, 2022
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing
Sneha D Goenka, John E Gorzynski, Kishwar Shafin, et al.
Nature
|
July 1, 2026
Harmonizing standards and resources for the medical genome
Euan A Ashley, Ash A Alizadeh, Hanae Armitage, et al.
JAMA
|
March 13, 2014
Clinical interpretation and implications of whole-genome sequencing
Frederick E Dewey, Megan E Grove, Cuiping Pan, et al.
Nature Medicine
|
June 5, 2019
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
Laure Frésard, Craig Smail, Nicole M Ferraro, et al.
American Journal of Human Genetics
|
February 27, 2018
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
Monika Oláhová, Wan Hee Yoon, Kyle Thompson, et al.
Page
of 3