Anne Gregor
Bern, BE 3010, Switzerland
Last Updated: 09/26/2026
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Found 35 publications
De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.
Journal: American journal of human genetics
Published: February 26, 2026
Further characterization of the BRSK2-associated neurodevelopmental disorder.
Journal: European journal of human genetics : EJHG
Published: January 13, 2026
Heterozygous loss of SRRM1 may be associated with neurodevelopmental phenotypes and anomalies in cell growth and neurite morphology.
Journal: European journal of human genetics : EJHG
Published: May 06, 2025
De Novo Splice-Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal-Hreidarsson Syndrome.
Journal: American journal of medical genetics. Part A
Published: February 03, 2025
Bern: PD Dr. rer. nat. Anne Gregor Habilitation zum Thema "Modellsysteme für neuronale Entwicklungsstörungen".
Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V
Published: December 04, 2024
Proteasomal activation ameliorates neuronal phenotypes linked to FBXO11-deficiency.
Journal: HGG advances
Published: November 15, 2024
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.
Journal: American journal of human genetics
Published: September 27, 2024
Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy.
Journal: Human molecular genetics
Published: September 09, 2024
Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems.
Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V
Published: June 10, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorder.
Journal: European journal of human genetics : EJHG
Published: April 23, 2024
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 01, 2024
NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model.
Journal: Scientific reports
Published: December 14, 2023
Last Updated: 09/26/2026