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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.
Genes
|
July 27, 2022
Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease
Marisol Delea, Lucia S Massara, Lucia D Espeche, 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.
Nature Genetics
|
April 23, 2026
Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Daniel Greene, Rodrigo Mendez, Jon Lees, et al.
American Journal of Medical Genetics. Part A
|
April 20, 2026
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling
Annie D Niehaus, Devon E Bonner, Jennefer Carter, et al.
Nature Genetics
|
March 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Daniel Greene, Rodrigo Mendez, Jon Lees, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 29, 2025
Saturation genome editing of <i>RNU4-2</i> reveals distinct dominant and recessive neurodevelopmental disorders
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
Nature
|
April 8, 2026
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort
Dena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
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Search research articles
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Showing results (11-20 of 22) with videos related to
Sort By:
Page
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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.
Genes
|
July 27, 2022
Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease
Marisol Delea, Lucia S Massara, Lucia D Espeche, 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.
Nature Genetics
|
April 23, 2026
Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Daniel Greene, Rodrigo Mendez, Jon Lees, et al.
American Journal of Medical Genetics. Part A
|
April 20, 2026
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling
Annie D Niehaus, Devon E Bonner, Jennefer Carter, et al.
Nature Genetics
|
March 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Daniel Greene, Rodrigo Mendez, Jon Lees, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 29, 2025
Saturation genome editing of <i>RNU4-2</i> reveals distinct dominant and recessive neurodevelopmental disorders
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
Nature
|
April 8, 2026
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort
Dena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
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