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HGG Advances
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June 2, 2025
Transcriptomic signatures of rare variant impacts across sex and the X chromosome
Rachel A Ungar, Taibo Li, Nikolai G Vetr, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2018
Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants
Rachel A Ungar, Neelam Giri, Maryland Pao, et al.
American Journal of Human Genetics
|
June 4, 2024
Impact of genome build on RNA-seq interpretation and diagnostics
Rachel A Ungar, Pagé C Goddard, Tanner D Jensen, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 23, 2024
Impact of genome build on RNA-seq interpretation and diagnostics
Rachel A Ungar, Pagé C Goddard, Tanner D Jensen, et al.
Cell Genomics
|
May 2, 2024
Increasing equity in science requires better ethics training: A course by trainees, for trainees
Roshni A Patel, Rachel A Ungar, Alanna L Pyke, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 8, 2024
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease
Tanner D Jensen, Bohan Ni, Chloe M Reuter, et al.
Genome Research
|
March 20, 2025
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease
Tanner D Jensen, Bohan Ni, Chloe M Reuter, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Maggie T Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
American Journal of Human Genetics
|
September 20, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Taylor M Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
HGG Advances
|
March 11, 2026
Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations
Rodrigo Mendez, Taylor M Arriaga, Jialan Ma, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 15) with videos related to
Sort By:
Page
of 2
HGG Advances
|
June 2, 2025
Transcriptomic signatures of rare variant impacts across sex and the X chromosome
Rachel A Ungar, Taibo Li, Nikolai G Vetr, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2018
Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants
Rachel A Ungar, Neelam Giri, Maryland Pao, et al.
American Journal of Human Genetics
|
June 4, 2024
Impact of genome build on RNA-seq interpretation and diagnostics
Rachel A Ungar, Pagé C Goddard, Tanner D Jensen, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 23, 2024
Impact of genome build on RNA-seq interpretation and diagnostics
Rachel A Ungar, Pagé C Goddard, Tanner D Jensen, et al.
Cell Genomics
|
May 2, 2024
Increasing equity in science requires better ethics training: A course by trainees, for trainees
Roshni A Patel, Rachel A Ungar, Alanna L Pyke, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 8, 2024
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease
Tanner D Jensen, Bohan Ni, Chloe M Reuter, et al.
Genome Research
|
March 20, 2025
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease
Tanner D Jensen, Bohan Ni, Chloe M Reuter, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Maggie T Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
American Journal of Human Genetics
|
September 20, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Taylor M Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
HGG Advances
|
March 11, 2026
Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations
Rodrigo Mendez, Taylor M Arriaga, Jialan Ma, et al.
Page
of 2