Meret Wegler
Leipzig, SN, Germany
Last Updated: 09/26/2026
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Found 9 publications
De novo variants in ATP2B1 lead to neurodevelopmental delay.
Journal: American journal of human genetics
Published: November 12, 2025
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.
Journal: American journal of medical genetics. Part A
Published: September 29, 2025
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Journal: American journal of human genetics
Published: December 08, 2023
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Journal: Human genetics
Published: November 08, 2023
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 12, 2023
De novo variants in the PABP domain of PABPC1 lead to developmental delay.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 02, 2021
De novo variants in ATP2B1 lead to neurodevelopmental delay.
Journal: American journal of human genetics
Published: October 14, 2021
Showing 1-9 of 9
Last Updated: 09/26/2026