Maria Kibaek
Odense, Denmark
Last Updated: 09/26/2026
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Found 30 publications
Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.
Journal: Clinical genetics
Published: January 28, 2026
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: October 19, 2025
De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.
Journal: American journal of medical genetics. Part A
Published: January 14, 2025
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: November 23, 2022
Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease-gene association.
Journal: Human genetics
Published: August 04, 2022
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Journal: European journal of medical genetics
Published: July 07, 2022
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Journal: European journal of human genetics : EJHG
Published: July 07, 2022
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 26, 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 06, 2020
Biallelic variants in GLE1 with survival beyond neonatal period.
Journal: Clinical genetics
Published: May 26, 2020
Last Updated: 09/26/2026