Alexander A. Stegmann

Nijmegen, GE 6525GA, Netherlands

Last Updated: 09/26/2026

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Found 75 publications

Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.

Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.

Journal: The New England journal of medicine

Published: June 15, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

De novo variants in ATP2B1 lead to neurodevelopmental delay.

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Journal: American journal of human genetics

Published: November 12, 2025

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 19, 2025

The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasis.

The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasis.

Journal: iScience

Published: August 11, 2025

Functional signatures of de novo GABBR1 and GABBR2 variants associated with neurodevelopmental disorders.

Functional signatures of de novo GABBR1 and GABBR2 variants associated with neurodevelopmental disorders.

Journal: NPJ genomic medicine

Published: November 12, 2024

A Novel Distal 22Q11.21 Microduplication in a 43-Year-Old Male Patient with Mild Intellectual Disability, Social Cognitive Dysfunctions, and Anxiety.

A Novel Distal 22Q11.21 Microduplication in a 43-Year-Old Male Patient with Mild Intellectual Disability, Social Cognitive Dysfunctions, and Anxiety.

Journal: Clinical neuropsychiatry

Published: December 13, 2023

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Journal: Annals of neurology

Published: November 16, 2023

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.

Journal: American journal of human genetics

Published: November 01, 2023

Genome sequencing as a generic diagnostic strategy for rare disease.

Genome sequencing as a generic diagnostic strategy for rare disease.

Journal: Genome medicine

Published: September 21, 2023

Showing 1-12 of 75

Last Updated: 09/26/2026