MetaDome 2027: a comprehensively updated resource for aggregating missense variant evidence across homologous human protein domains
Laurens Wiel, Federico Ferraro, Jay Yu, Jimmy Zhen et autres
0 citationsbioRxiv (Cold Spring Harbor Laboratory)
Rodrigo Mendez
Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.
14Publications signalées
218Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
RNA Research and SplicingRNA modifications and cancerRNA and protein synthesis mechanismsRNA regulation and diseaseCongenital Heart Disease Studies
Publications récentes
Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing
Alexis Ferrasse, Rodrigo Mendez, John E. Gorzynski, Chloe M. Reuter et autres
1 citationGenome biology
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Rodrigo Mendez, Rachel A. Ungar, Devon Bonner, Dena R. Matalon et autres
19 citationsThe American Journal of Human Genetics
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Daniel Greene, Rodrigo Mendez, Jonathan Lees, Mafalda Barbosa et autres
11 citationsmedRxiv
Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocío Rius, Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe et autres
5 citationsmedRxiv
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão et autres
13 citationsmedRxiv
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Rodrigo Mendez, Rachel A. Ungar, Devon Bonner, Dena R. Matalon et autres
10 citationsmedRxiv
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl et autres
131 citationsNature
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton et autres
10 citationsmedRxiv
Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease
Marisol Delea, Lucía S. Massara, Lucía D. Espeche, María Paz Bidondo et autres
9 citationsGenes
Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing
Rodrigo Mendez, Sumaiya Iqbal, Sebastián Vishnopolska, Cinthia Martínez et autres
3 citationsOphthalmic Genetics
Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing
Rodrigo Mendez, Sumaiya Iqbal, Sebastián Vishnopolska, Cinthia Martínez et autres
0 citationsFigshare
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