SISTEMA INTEGRAL DE INFORMACIÓN ACADÉMICA - PÚBLICO

Singer-Berk M.
(Autor externo)

Obras con ISBN:0
Documentos en revistas:9
Colaboraciones en Tesis:0
Patentes:0
Obras con ISBN:No hay obras de este autor.
Documentos en revistas:
1.- Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database (2025)
 
2.- Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes (Nature, (2024), 625, 7993, (92-100), 10.1038/s41586-023-06045-0) (2024)
 
3.- A genomic mutational constraint map using variation in 76,156 human genomes (2024)
 
4.- Inferring compound heterozygosity from large-scale exome sequencing data (2024)
 
5.- Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes (2021)
 
6.- Author Correction: Transcript expression-aware annotation improves rare variant interpretation (Nature, (2020), 581, 7809, (452-458), 10.1038/s41586-020-2329-2) (2021)
 
7.- Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans (Nature, (2020), 581, 7809, (434-443), 10.1038/s41586-020-2308-7) (2021)
 
8.- The mutational constraint spectrum quantified from variation in 141,456 humans (2020)
 
9.- Transcript expression-aware annotation improves rare variant interpretation (2020)
 
Colaboraciones en Tesis:No hay tesis de este autor.
Patentes:No hay patentes de este autor.