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Carol Saunders

16PUBLICATIONS
170CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Biomechanical engineeringCentral nervous systemDevelopmental genetics (incl. sex determination)Genomics
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Journal

Publications (16)

Sort by Publication Date:
|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 <i>BHLHE22</i> 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

|Aug 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Emily Banks, Vincent Francis, Sheng-Jia Lin

Pageof 3

Frequent Collaborators

2 joint publications

Isabelle Thiffault

2 joint publications

Miriam Elbracht

2 joint publications

Emily G Farrow

2 joint publications

Henry Houlden

2 joint publications

Stephen C Pak

2 joint publications

Stephanie Efthymiou

2 joint publications

Ingo Kurth

2 joint publications

Tobias B Haack

2 joint publications

Gary A Silverman

1 joint publications

Robert W Taylor

Frequent Collaborators

2 joint publications

Isabelle Thiffault

2 joint publications

Miriam Elbracht

2 joint publications

Emily G Farrow

2 joint publications

Henry Houlden

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