Carol Saunders
16PUBLICATIONS
170CO-AUTHORS
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Publications (16)
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|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
|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
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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
