Thessa Kroes
Adelaide, SA 5005, Australia
Last Updated: 09/26/2026
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Found 8 publications
Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.
Journal: Brain communications
Published: January 19, 2025
RNA variant assessment using transactivation and transdifferentiation.
Journal: American journal of human genetics
Published: March 08, 2024
Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 21, 2023
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 30, 2023
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.
Journal: Human mutation
Published: July 05, 2020
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.
Journal: European journal of human genetics : EJHG
Published: August 29, 2019
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Journal: Nature communications
Published: March 19, 2019
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Journal: Nature communications
Published: March 19, 2019
Showing 1-8 of 8
Last Updated: 09/26/2026