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Nature Genetics
|
January 14, 2022
Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19
Jennifer E Huffman, Guillaume Butler-Laporte, Atlas Khan, et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 23, 2023
A genotype-first approach identifies high incidence of <i>NF1</i> pathogenic variants with distinct disease associations
Anton Safonov, Tomoki T Nomakuchi, Elizabeth Chao, et al.
Implementation Science : IS
|
August 19, 2024
Protocol for a type 3 hybrid implementation cluster randomized clinical trial to evaluate the effect of patient and clinician nudges to advance the use of genomic medicine across a diverse health system
Anna C Raper, Benita L Weathers, Theodore G Drivas, et al.
American Journal of Human Genetics
|
July 6, 2026
Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies
Gabrielle Lemire, Aren E Marshall, Tejan S Patel, et al.
American Journal of Human Genetics
|
December 20, 2025
Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population
Jessica I Gold, Yehuda Elkaim, Nina B Gold, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
Practice-Based Insights into Adult Genetics: High Diagnostic Yield, Demographic Determinants, and Patterns of Test Utilization in Over 7,000 Patients
Jessica I Gold, Yehuda Elkaim, Stephanie Asher, et al.
American Journal of Medical Genetics. Part A
|
September 14, 2023
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA
Bede N Nriagu, Lydia S Williams, Niambi Brewer, et al.
Journal of Personalized Medicine
|
December 23, 2022
The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population
Anurag Verma, Scott M Damrauer, Nawar Naseer, et al.
Nature Communications
|
June 14, 2022
Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders
Xinyuan Zhang, Anastasia M Lucas, Yogasudha Veturi, et al.
Nature Communications
|
April 1, 2025
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations
Anton Safonov, Tomoki T Nomakuchi, Elizabeth Chao, et al.
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of 8
Search research articles
Search
Showing results (61-70 of 77) with videos related to
Sort By:
Page
of 8
Nature Genetics
|
January 14, 2022
Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19
Jennifer E Huffman, Guillaume Butler-Laporte, Atlas Khan, et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 23, 2023
A genotype-first approach identifies high incidence of <i>NF1</i> pathogenic variants with distinct disease associations
Anton Safonov, Tomoki T Nomakuchi, Elizabeth Chao, et al.
Implementation Science : IS
|
August 19, 2024
Protocol for a type 3 hybrid implementation cluster randomized clinical trial to evaluate the effect of patient and clinician nudges to advance the use of genomic medicine across a diverse health system
Anna C Raper, Benita L Weathers, Theodore G Drivas, et al.
American Journal of Human Genetics
|
July 6, 2026
Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies
Gabrielle Lemire, Aren E Marshall, Tejan S Patel, et al.
American Journal of Human Genetics
|
December 20, 2025
Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population
Jessica I Gold, Yehuda Elkaim, Nina B Gold, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
Practice-Based Insights into Adult Genetics: High Diagnostic Yield, Demographic Determinants, and Patterns of Test Utilization in Over 7,000 Patients
Jessica I Gold, Yehuda Elkaim, Stephanie Asher, et al.
American Journal of Medical Genetics. Part A
|
September 14, 2023
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA
Bede N Nriagu, Lydia S Williams, Niambi Brewer, et al.
Journal of Personalized Medicine
|
December 23, 2022
The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population
Anurag Verma, Scott M Damrauer, Nawar Naseer, et al.
Nature Communications
|
June 14, 2022
Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders
Xinyuan Zhang, Anastasia M Lucas, Yogasudha Veturi, et al.
Nature Communications
|
April 1, 2025
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations
Anton Safonov, Tomoki T Nomakuchi, Elizabeth Chao, et al.
Page
of 8