Carol Saunders

17PUBLICATIONS
173CO-AUTHORS
NeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Biomechanical engineeringCentral nervous systemDevelopmental genetics (incl. sex determination)
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Publications (17)

|Aug 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.

|Jun 30, 2025
Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease.

Mahmoud R Fassad, Sebastian Valenzuela, Monika Oláhová

|Nov 06, 2024
Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

Carolyn Le, Emanuela Argilli, Elizabeth George

|Oct 31, 2024
Brain malformations and seizures by impaired chaperonin function of TRiC.

Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan

|Sep 21, 2024
SF3B2 Haploinsufficiency Associated With Hirschprung Disease and Complex Cardiac Defect Without Craniofacial Microsomia.

Florencia Del Viso, Dihong Zhou, Susan Starling

|Sep 10, 2024
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

Jana Willim, Daniel Woike, Daniel Greene

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Frequent Collaborators

3 joint publications

Stephanie Efthymiou

2 joint publications

Isabelle Thiffault

2 joint publications

Henry Houlden

2 joint publications

Stephen C Pak