Henry Oppermann
Leipzig, SN 04103, Germany
Last Updated: 09/26/2026
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Found 45 publications
De novo variants in ATP2B1 lead to neurodevelopmental delay.
Journal: American journal of human genetics
Published: November 12, 2025
Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia.
Journal: American journal of human genetics
Published: June 27, 2025
Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti.
Journal: Human mutation
Published: July 29, 2024
Rapid and reproducible generation of glioblastoma spheroids for high-throughput drug screening.
Journal: Frontiers in bioengineering and biotechnology
Published: July 26, 2024
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Journal: Nature genetics
Published: June 16, 2024
Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic Neoplasm.
Journal: Acta haematologica
Published: May 16, 2024
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.
Journal: American journal of human genetics
Published: March 25, 2024
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Journal: Human genetics
Published: November 08, 2023
Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism.
Journal: European journal of human genetics : EJHG
Published: February 02, 2023
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Journal: Clinical genetics
Published: January 23, 2023
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Journal: European journal of human genetics : EJHG
Published: December 21, 2022
Last Updated: 09/26/2026