Astrid P. Weber
Liverpool, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 28 publications
A Diagnostic Conundrum in Fumarase Deficiency: Expanding the Clinical and Genetic Spectrum in a Cohort of Pediatric and Adult Patients.
Journal: American journal of medical genetics. Part A
Published: December 19, 2025
Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: May 20, 2025
Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.
Journal: American journal of medical genetics. Part A
Published: December 20, 2024
Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.
Journal: Journal of anatomy
Published: February 13, 2024
Patient Tailored Surgery in Saethre-Chotzen Syndrome: Analysis of Reoperation for Intracranial Hypertension.
Journal: The Journal of craniofacial surgery
Published: March 27, 2023
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 22, 2022
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
Journal: Molecular cell
Published: November 19, 2021
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 12, 2021
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
Journal: Molecular cell
Published: March 29, 2021
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 09, 2020
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 06, 2020
Last Updated: 09/26/2026