Maria J Guillen Sacoto

2PUBLICATIONS
38CO-AUTHORS
Medical biotechnology diagnostics (incl. biosensors)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (2)

|Feb 16, 2026
Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes.

Vincent D Ustach, Maria J Guillen Sacoto, Stephen McGee

|May 13, 2021
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.

Dong Li, Qin Wang, Naihua N Gong

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Frequent Collaborators

2 joint publications

Kirsty McWalter

1 joint publications

Dong Li

1 joint publications

Naihua N Gong

1 joint publications

Alina Kurolap