Associated Papers
High-throughput behavioural phenotyping of 25 C. elegans disease models including patient-specific mutations.
O'Brien TJ et al.
Bmc Biology, 2025
Achalasia and mental retardation in a child with uniparental disomy of GMPPA treated with POEM.
Qiu X et al.
Gastroenterology Report, 2025
A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants.
Geiculescu I et al.
American Journal of Medical Genetics. Part A, 2022
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