Alexander P. Stegmann

Maastricht, LI, Netherlands

Last Updated: 09/26/2026

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Found 13 publications

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Journal: The Journal of clinical investigation

Published: November 03, 2025

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Journal: The Journal of clinical investigation

Published: August 31, 2022

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: June 07, 2022

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 21, 2020

De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.

De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.

Journal: Clinical genetics

Published: September 27, 2017

De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.

De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.

Journal: Clinical genetics

Published: August 21, 2017

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.

Journal: Epilepsia

Published: May 24, 2017

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Journal: Nature communications

Published: March 31, 2017

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.

Journal: Genome medicine

Published: July 19, 2016

Cutaneous clues for diagnosing X-chromosomal disorders.

Cutaneous clues for diagnosing X-chromosomal disorders.

Journal: Clinical genetics

Published: January 14, 2013

Adducted thumbs: a clinical clue to genetic diagnosis.

Adducted thumbs: a clinical clue to genetic diagnosis.

Journal: European journal of medical genetics

Published: February 16, 2012

Defective NDUFA9 as a novel cause of neonatally fatal complex I disease.

Defective NDUFA9 as a novel cause of neonatally fatal complex I disease.

Journal: Journal of medical genetics

Published: November 25, 2011

Showing 1-12 of 13

Last Updated: 09/26/2026