Frances A. High

Medical Genetics | Pediatrics

55 Fruit St
Boston, MA 02114

Last Updated: 09/26/2026

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Found 42 publications

Modeling patient variants of Cnot1 and Cdc42bpb results in distinct forms of congenital diaphragmatic hernia in mice.

Modeling patient variants of Cnot1 and Cdc42bpb results in distinct forms of congenital diaphragmatic hernia in mice.

Journal: bioRxiv : the preprint server for biology

Published: May 13, 2026

Antiseizure Medication Polytherapies During Pregnancy and the Risk of Congenital Malformations.

Antiseizure Medication Polytherapies During Pregnancy and the Risk of Congenital Malformations.

Journal: Neurology

Published: May 07, 2026

Proximity Labeling Reveals How Lrp2 Interacts with the Endocytic Machine.

Proximity Labeling Reveals How Lrp2 Interacts with the Endocytic Machine.

Journal: Journal of proteome research

Published: April 20, 2026

Histone methylation activity of KMT2D is required for proliferative control of the developing lung.

Histone methylation activity of KMT2D is required for proliferative control of the developing lung.

Journal: bioRxiv : the preprint server for biology

Published: March 27, 2026

Failure of endocytic flux in Donnai-Barrow syndrome caused by LRP2 p.C1400R.

Failure of endocytic flux in Donnai-Barrow syndrome caused by LRP2 p.C1400R.

Journal: JCI insight

Published: August 20, 2025

Poretti-Boltshauser Syndrome: A Potential Pathognomonic "Wolfjaw" Pattern of Retinal Perfusion.

Poretti-Boltshauser Syndrome: A Potential Pathognomonic "Wolfjaw" Pattern of Retinal Perfusion.

Journal: Ophthalmic surgery, lasers & imaging retina

Published: July 25, 2025

Use of Antiseizure Medications Early in Pregnancy and the Risk of Major Malformations in the Newborn.

Use of Antiseizure Medications Early in Pregnancy and the Risk of Major Malformations in the Newborn.

Journal: Neurology

Published: July 16, 2025

Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants.

Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants.

Journal: American journal of human genetics

Published: April 23, 2024

High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases.

High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases.

Journal: The Journal of clinical investigation

Published: October 24, 2023

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.

Journal: medRxiv : the preprint server for health sciences

Published: February 13, 2023

A Tracheal Aspirate-derived Airway Basal Cell Model Reveals a Proinflammatory Epithelial Defect in Congenital Diaphragmatic Hernia.

A Tracheal Aspirate-derived Airway Basal Cell Model Reveals a Proinflammatory Epithelial Defect in Congenital Diaphragmatic Hernia.

Journal: American journal of respiratory and critical care medicine

Published: February 02, 2023

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Journal: Brain : a journal of neurology

Published: January 27, 2023

Showing 1-12 of 42

Last Updated: 09/26/2026