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HGG Advances
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August 18, 2023
Phenotypes of undiagnosed adults with actionable <i>OTC</i> and <i>GLA</i> variants
Jessica I Gold, Sarina Madhavan, Joseph Park, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 11, 2024
Sex-Specific Effect of MTSS1 Downregulation on Dilated Cardiomyopathy
Dongwook Choe, Megan Burke, Jeffrey A Brandimarto, et al.
Circulation
|
November 11, 2024
Sex-Specific Effects of <i>MTSS1</i> Downregulation on Dilated Cardiomyopathy
Dongwook Choe, Megan Burke, Jeffrey A Brandimarto, et al.
Circulation. Genomic and Precision Medicine
|
February 4, 2022
End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic <i>C1QBP</i> Variants
Nicholas S Wilcox, Stuart B Prenner, Marisa Cevasco, et al.
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
|
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.
Page
of 4
Search research articles
Search
Showing results (21-30 of 40) with videos related to
Sort By:
Page
of 4
HGG Advances
|
August 18, 2023
Phenotypes of undiagnosed adults with actionable <i>OTC</i> and <i>GLA</i> variants
Jessica I Gold, Sarina Madhavan, Joseph Park, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 11, 2024
Sex-Specific Effect of MTSS1 Downregulation on Dilated Cardiomyopathy
Dongwook Choe, Megan Burke, Jeffrey A Brandimarto, et al.
Circulation
|
November 11, 2024
Sex-Specific Effects of <i>MTSS1</i> Downregulation on Dilated Cardiomyopathy
Dongwook Choe, Megan Burke, Jeffrey A Brandimarto, et al.
Circulation. Genomic and Precision Medicine
|
February 4, 2022
End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic <i>C1QBP</i> Variants
Nicholas S Wilcox, Stuart B Prenner, Marisa Cevasco, et al.
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
|
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.
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of 4