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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 14, 2025
Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial
Robin Z Hayeems, Wendy J Ungar, Christian R Marshall, et al.
Neurology. Genetics
|
May 22, 2025
<i>PRRT</i> <i>2</i>-Related Epilepsy: From Self-Limited Infantile Epilepsy to Atypical Epilepsy Phenotypes
Madeline Komar, Jashanpreet Sidhu, Jiju Joseph, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 9, 2018
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
Gregory Costain, Bert Callewaert, Heinz Gabriel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 25, 2025
A Microcosting and Cost Consequence Analysis from a Randomized Controlled Trial Comparing Genome Sequencing to Exome Sequencing for Genetic Diagnosis
Wendy J Ungar, Vercancy Wu, Christian R Marshall, et al.
Circulation
|
July 1, 2018
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome
S Mohsen Hosseini, Raymond Kim, Sharmila Udupa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability
Robin Z Hayeems, Stephanie Luca, Wendy J Ungar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 21, 2018
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot
Miriam S Reuter, Rebekah Jobling, Rajiv R Chaturvedi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 9, 2015
Practical guidelines for managing adults with 22q11.2 deletion syndrome
Wai Lun Alan Fung, Nancy J Butcher, Gregory Costain, et al.
NPJ Genomic Medicine
|
July 2, 2025
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing
Huayun Hou, Kyoko E Yuki, Gregory Costain, et al.
NPJ Genomic Medicine
|
April 6, 2024
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions
Ali AlMail, Ahmed Jamjoom, Amy Pan, et al.
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Search research articles
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Showing results (91-100 of 144) with videos related to
Sort By:
Page
of 15
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 14, 2025
Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial
Robin Z Hayeems, Wendy J Ungar, Christian R Marshall, et al.
Neurology. Genetics
|
May 22, 2025
<i>PRRT</i> <i>2</i>-Related Epilepsy: From Self-Limited Infantile Epilepsy to Atypical Epilepsy Phenotypes
Madeline Komar, Jashanpreet Sidhu, Jiju Joseph, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 9, 2018
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
Gregory Costain, Bert Callewaert, Heinz Gabriel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 25, 2025
A Microcosting and Cost Consequence Analysis from a Randomized Controlled Trial Comparing Genome Sequencing to Exome Sequencing for Genetic Diagnosis
Wendy J Ungar, Vercancy Wu, Christian R Marshall, et al.
Circulation
|
July 1, 2018
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome
S Mohsen Hosseini, Raymond Kim, Sharmila Udupa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability
Robin Z Hayeems, Stephanie Luca, Wendy J Ungar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 21, 2018
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot
Miriam S Reuter, Rebekah Jobling, Rajiv R Chaturvedi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 9, 2015
Practical guidelines for managing adults with 22q11.2 deletion syndrome
Wai Lun Alan Fung, Nancy J Butcher, Gregory Costain, et al.
NPJ Genomic Medicine
|
July 2, 2025
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing
Huayun Hou, Kyoko E Yuki, Gregory Costain, et al.
NPJ Genomic Medicine
|
April 6, 2024
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions
Ali AlMail, Ahmed Jamjoom, Amy Pan, et al.
Page
of 15