Maria J. Guillen-Sacoto

Internal Medicine

20 Edwards Rd
Natick, MA 01760

Last Updated: 09/26/2026

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Found 62 publications

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

Journal: American journal of human genetics

Published: February 12, 2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal: Journal of medical genetics

Published: December 26, 2025

WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models.

WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models.

Journal: Developmental biology

Published: September 19, 2025

Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

Journal: The Journal of clinical investigation

Published: July 23, 2025

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

Journal: American journal of human genetics

Published: April 07, 2025

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.

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.

Journal: Human genetics

Published: March 26, 2025

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics.

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics.

Journal: American journal of medical genetics. Part A

Published: January 31, 2025

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.

Journal: American journal of human genetics

Published: June 20, 2024

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Journal: American journal of human genetics

Published: May 09, 2024

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Journal: The Journal of clinical investigation

Published: April 26, 2024

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Journal: American journal of human genetics

Published: March 20, 2024

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

Journal: American journal of medical genetics. Part A

Published: October 17, 2023

Showing 1-12 of 62

Last Updated: 09/26/2026